- Analytes
- MYH7B
MYH7B
Name: |
myosin heavy chain 7B
|
Symbol: |
MYH7B
|
Version of Orphanet: |
2023-06-22 14:14:43
|
Synonyms: |
KIAA1512
MHC14
MYH14
dJ756N5.1
|
XREF(s): | |
Created: |
13 May 2019 - 01:01
|
Changed: |
22 Jun 2023 - 16:14
|
- Cardiomyopathy, hereditary (gene panel)
- Charcot-Marie-Tooth (other than type 1A) (gene panel, IPN panel)
- Neurodevelopmental disorders (1300 genes)
- Neurodevelopmental disorders gene panel
- Neuromuscular disorders (232 genes (= myopathy, metabolic myopathy, ion channel muscle diseases, muscular dystrophy, myotonic dystrophy, rhabdomyolysis, myasthenia)
- Neuromuscular disorders (548 genes)
- Neuromuscular disorders (gene panel)
- Neuromuscular disorders : congenital & distal myopathy, congenital muscle dystrophy / Limb-girdle muscular dystrophy / Rhabdomyolysis / Myopathy (with prominent contractures) / distal artrogryposis (gene panel)
- Neuropathy (gene panel)
-
Inherited Peripheral Neuropathies gene panel (139 genes) - KUL
Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments AARS1 100.00 0 NM_001605.2 ABCD1 100.00 0 NM_000033.3 ABHD12 98.00 0 NM_001042472.2 AGTPBP1 99.90 0 NM_001286715.1 AIFM1 100.00 0 NM_004208.3 APTX 99.00 0 NM_175073.2 ARHGEF10 100.00 0 NM_014629.3 ATL1 100.00 0 NM_015915.4 ATL3 100.00 0 NM_015459.4 ATP1A1 100.00 0 NM_000701.7 ATP7A 100.00 0 NM_000052.6 BAG3 100.00 0 NM_004281.3 BICD2 100.00 0 NM_001003800.1 BSCL2 100.00 0 NM_032667.6 MTRFR 100.00 0 NM_152269.4 CCT5 100.00 0 NM_012073.4 CD59 100.00 0 NM_203330.2 CNTNAP1 100.00 0 NM_003632.2 COA7 100.00 0 NM_023077.2 COX6A1 100.00 0 NM_004373.3 CTDP1 98.90 0 NM_004715.4 DCAF8 100.00 0 NM_015726.3 DCTN1 100.00 0 NM_004082.4 DGAT2 100.00 0 NM_032564.4 DHTKD1 99.90 0 NM_018706.6 DNAJB2 100.00 0 NM_001039550.1 DNM2 100.00 0 NM_001005360.2 DNMT1 99.50 0 NM_001130823.2 DRP2 100.00 0 NM_001939.2 DST 100.00 0 NM_001723.5 DYNC1H1 100.00 0 NM_001376.4 EGR2 100.00 0 NM_000399.4 ELP1 100.00 0 NM_003640.4 FBLN5 100.00 0 NM_006329.3 FBXO38 100.00 0 NM_030793.4 FGD4 100.00 0 NM_139241.3 FIG4 100.00 0 NM_014845.5 FLVCR1 100.00 0 NM_014053.3 GAN 100.00 0 NM_022041.3 GARS1 100.00 0 NM_002047.3 GDAP1 100.00 0 NM_018972.3 GJB1 100.00 0 NM_000166.5 GJB3 100.00 0 NM_024009.2 GLA 100.00 0 NM_000169.2 GNB4 100.00 0 NM_021629.3 HADHA 100.00 0 NM_000182.4 HADHB 100.00 0 NM_000183.2 HARS1 100.00 0 NM_002109.5 HINT1 100.00 0 NM_005340.6 HK1 100.00 0 NM_000188.2 HOXD10 100.00 0 NM_002148.3 HSPB1 99.00 0 NM_001540.4 HSPB3 100.00 0 NM_006308.2 HSPB8 100.00 0 NM_014365.2 IARS2 100.00 0 NM_018060.3 IFRD1 99.90 0 NM_001550.3 IGHMBP2 100.00 0 NM_002180.2 INF2 98.80 0 NM_022489.3 ITPR3 99.50 0 NM_002224.3 KARS1 100.00 0 NM_001130089.1 KIF1A 99.90 0 NM_004321.7 KIF1B 100.00 0 NM_015074.3 KIF5A 100.00 0 NM_004984.3 KLHL13 100.00 0 NM_033495.3 LITAF 100.00 0 NM_004862.3 LMNA 99.90 0 NM_170707.3 LRSAM1 100.00 0 NM_138361.5 MARS1 100.00 0 NM_004990.3 MCM3AP 100.00 0 NM_003906.4 MED25 100.00 0 NM_030973.3 MFN2 100.00 0 NM_014874.3 MME 100.00 0 NM_007289.3 MORC2 100.00 0 NM_001303256.2 MPV17 100.00 0 NM_002437.4 MPZ 100.00 0 NM_000530.7 MTMR2 100.00 0 NM_016156.5 MYH7B 99.80 0 NM_024729.3 NAGLU 99.70 0 NM_000263.3 NDRG1 100.00 0 NM_006096.3 NEFH 99.50 0 NM_021076.3 NEFL 99.60 0 NM_006158.4 NGF 100.00 0 NM_002506.2 NTRK1 100.00 0 NM_001012331.1 MED12 100.00 0 NM_015560.2 OPA3 100.00 0 NM_025136.3 PDK3 100.00 0 NM_001142386.2 PDXK 100.00 0 NM_003681.4 PEX1 100.00 0 NM_000466.2 PEX7 100.00 0 NM_000288.3 PHYH 100.00 0 NM_006214.3 PLEKHG5 99.80 0 NM_020631.4 PMP2 100.00 0 NM_002677.4 PMP22 100.00 0 NM_000304.3 PNKP 99.80 0 NM_007254.3 POLG 100.00 0 NM_002693.2 PRDM12 90.30 0 NM_021619.2 PRNP 100.00 0 NM_000311.4 PRPS1 100.00 0 NM_002764.3 PRX 100.00 0 NM_181882.2 RAB7A 100.00 0 NM_004637.5 REEP1 100.00 0 NM_022912.2 RETREG1 99.40 0 NM_001034850.2 SBF1 99.70 0 NM_002972.3 SBF2 100.00 0 NM_030962.3 SCN10A 100.00 0 NM_006514.3 SCN11A 99.80 0 NM_014139.2 SCN9A 100.00 0 NM_002977.3 SCO2 100.00 0 NM_005138.2 SCP2 100.00 0 NM_002979.4 SEPTIN9 99.20 0 NM_006640.4 SETX 100.00 0 NM_015046.6 SGPL1 100.00 0 NM_003901.3 SH3BP4 100.00 0 NM_014521.2 SH3TC2 100.00 0 NM_024577.3 SIGMAR1 100.00 0 NM_005866.3 SLC12A6 100.00 0 NM_133647.1 SLC25A46 100.00 0 NM_138773.3 SLC5A7 100.00 0 NM_021815.4 SORD 91.20 0 NM_003104.5 SOX10 100.00 0 NM_006941.3 SPG11 100.00 0 NM_025137.3 SPTLC1 100.00 0 NM_006415.3 SPTLC2 100.00 0 NM_004863.3 SURF1 99.00 0 NM_003172.3 TDP1 100.00 0 NM_018319.3 TECPR2 100.00 0 NM_014844.4 TFG 100.00 0 NM_006070.5 TRIM2 100.00 0 NM_001130067.1 TRPA1 100.00 0 NM_007332.2 TRPV4 99.90 0 NM_021625.4 TTR 100.00 0 NM_000371.3 TUBB3 100.00 0 NM_006086.3 TWNK 100.00 0 NM_021830.4 TYMP 100.00 0 NM_001953.4 VCP 99.90 0 NM_007126.4 VRK1 100.00 0 NM_003384.2 WARS1 99.80 0 NM_004184.3 WNK1 99.80 0 NM_018979.3 YARS1 100.00 0 NM_003680.3 -
Cardiomyopathy, hereditary (208 genes) - VUB
Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments ABCC9 100.00 0 No comment ACAD9 100.00 0 No comment ACADVL 98.89 0 No comment ACE 97.11 0 No comment ACTA1 100.00 0 No comment ACTC1 100.00 0 No comment ACTN2 100.00 0 No comment ADD3 100.00 0 No comment ADRB2 100.00 0 No comment AGXT 100.00 0 No comment AGTR1 100.00 0 No comment AKAP9 100.00 0 No comment ALPK3 98.02 0 No comment ANKRD1 100.00 0 No comment APOA1 99.97 0 No comment B2M 100.00 0 No comment BAG3 100.00 0 No comment BRAF 96.97 0 No comment CACNA1C 100.00 0 No comment CACNB2 100.00 0 No comment CALM1 100.00 0 No comment CALM2 100.00 0 No comment CALM3 99.99 0 No comment CALR3 100.00 0 No comment CASQ2 100.00 0 No comment CASZ1 95.56 0 No comment CAV3 100.00 0 No comment CAVIN4 100.00 0 No comment CBL 100.00 0 No comment CDH2 97.48 0 No comment CHRM2 100.00 0 No comment CMYA5 99.99 0 No comment CNBP 100.00 0 No comment COA5 100.00 0 No comment COA6 100.00 0 No comment COX10 100.00 0 No comment COX15 100.00 0 No comment CRYAB 100.00 0 No comment CSRP3 100.00 0 No comment CTF1 30.96 0 No comment CTNNA3 100.00 0 No comment DES 100.00 0 No comment DLG1 100.00 0 No comment DMD 100.00 0 No comment DNAJC19 100.00 0 No comment DNM1L 100.00 0 No comment DOLK 100.00 0 No comment DSC3 98.44 0 No comment DSG2 99.61 0 No comment DSP 100.00 0 No comment DTNA 100.00 0 No comment ECRG4 99.32 0 No comment ELAC2 99.99 0 No comment ELN 100.00 0 No comment EMD 99.84 0 No comment EYA4 100.00 0 No comment FBXO32 100.00 0 No comment CFH 100.00 0 No comment FHL2 100.00 0 No comment FHOD3 100.00 0 No comment FKRP 98.68 0 No comment FKTN 100.00 0 No comment FLNC 100.00 0 No comment FLT1 99.53 0 No comment FOXD4 100.00 0 No comment FXN 89.89 0 No comment GAA 100.00 0 No comment GATA4 80.69 0 No comment GATA5 97.28 0 No comment GATA6 81.11 0 No comment GATAD1 88.18 0 No comment GLA 100.00 0 No comment GTPBP3 100.00 0 No comment HACD1 95.46 0 No comment HADHB 100.00 0 No comment HAND1 100.00 0 No comment HCN4 92.35 0 No comment HIF1A 100.00 0 No comment HRAS 100.00 0 No comment HSPB6 99.65 0 No comment HSPB7 100.00 0 No comment ILK 100.00 0 No comment INS-IGF2 99.94 0 No comment ISL1 100.00 0 No comment JPH2 95.10 0 No comment JUP 100.00 0 No comment KARS1 100.00 0 No comment KAT2B 94.80 0 No comment KCND2 100.00 0 No comment KCNE1 100.00 0 No comment KCNH2 94.44 0 No comment KCNJ12 100.00 0 No comment KCNQ1 91.07 0 No comment KIF20A 100.00 0 No comment KLF10 100.00 0 No comment LAMA2 100.00 0 No comment LAMA4 100.00 0 No comment LAMP2 100.00 0 No comment LDB3 100.00 0 No comment LMNA 99.93 0 No comment LRRC10 100.00 0 No comment MAP2K1 100.00 0 No comment MAP2K2 99.98 0 No comment MIB1 100.00 0 No comment MIB2 99.31 0 No comment MRPL3 100.00 0 No comment MRPL44 100.00 0 No comment MTO1 95.75 0 No comment MYBPC3 100.00 0 No comment MYH15 100.00 0 No comment MYH6 100.00 0 No comment MYH7 100.00 0 No comment MYH7B 99.96 0 No comment MYL2 100.00 0 No comment MYL3 100.00 0 No comment MYLK2 100.00 0 No comment MYO6 100.00 0 No comment MYOM1 100.00 0 No comment MYOM3 100.00 0 No comment MYOZ1 100.00 0 No comment MYOZ2 100.00 0 No comment MYPN 100.00 0 No comment NAA10 96.03 0 No comment NCOA6 100.00 0 No comment NDUFAF1 100.00 0 No comment NDUFV2 100.00 0 No comment NEB 99.99 0 No comment NEBL 100.00 0 No comment NEXN 100.00 0 No comment NKX2-5 100.00 0 No comment NPPA 100.00 0 No comment NRAP 100.00 0 No comment OBSCN 99.26 0 No comment OBSL1 98.31 0 No comment MED12 100.00 0 No comment PDLIM3 100.00 0 No comment PKP2 99.87 0 No comment PLEC 99.82 0 No comment PLEKHM2 99.60 0 No comment PLN 100.00 0 No comment PPCS 100.00 0 No comment PRDM16 100.00 0 No comment PRKAG2 95.88 0 No comment PRNP 100.00 0 No comment PSEN1 100.00 0 No comment PSEN2 100.00 0 No comment PTEN 98.86 0 No comment PTPN11 98.80 0 No comment RAF1 100.00 0 No comment RANGRF 100.00 0 No comment RBM20 99.82 0 No comment RIT1 100.00 0 No comment RPSA 97.87 0 No comment RRAGC 99.99 0 No comment RTKN2 100.00 0 No comment RYR2 100.00 0 No comment S100A1 100.00 0 No comment SCN4B 100.00 0 No comment SCN5A 100.00 0 No comment SDHA 98.02 0 No comment SGCB 94.58 0 No comment SGCD 100.00 0 No comment SGCG 100.00 0 No comment SGK1 99.99 0 No comment SHOC2 100.00 0 No comment SLC12A1 100.00 0 No comment SLC22A5 100.00 0 No comment SLC25A3 100.00 0 No comment SLC25A4 99.09 0 No comment SMC1A 100.00 0 No comment SNTA1 84.25 0 No comment SOD2 100.00 0 No comment SOS1 100.00 0 No comment SYNE1 100.00 0 No comment SYNE2 100.00 0 No comment SYNM 92.59 0 No comment TAF1A 100.00 0 No comment TAX1BP3 100.00 0 No comment WWTR1 99.81 0 No comment TBX20 100.00 0 No comment TBX5 100.00 0 No comment TCAP 100.00 0 No comment TCF21 100.00 0 No comment TGFB3 100.00 0 No comment TJP1 99.14 0 No comment TK2 95.90 0 No comment TMED4 100.00 0 No comment TMEM43 100.00 0 No comment TMEM87B 99.37 0 No comment TMPO 99.87 0 No comment TNNI3 100.00 0 No comment TNNI3K 100.00 0 No comment TNNT2 100.00 0 No comment TNNT3 100.00 0 No comment TPM1 99.98 0 No comment TRIM54 99.66 0 No comment TRIM55 100.00 0 No comment TRIM63 100.00 0 No comment TRPM4 100.00 0 No comment TSFM 93.22 0 No comment TTN 100.00 0 No comment TTR 100.00 0 No comment TXNRD2 96.90 0 No comment VCL 100.00 0 No comment VEGFA 98.73 0 No comment YWHAE 98.69 0 No comment ZBTB17 100.00 0 No comment -
Neurodevelopmental disorders (1300 genes) - ULB
Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments A2ML1 100.00 0 Neurodevelopmental disorders ABCC6 99.95 0 Neurodevelopmental disorders ABCC9 99.93 0 Neurodevelopmental disorders ABCD1 97.56 0 Neurodevelopmental disorders ABCD4 100.00 0 Neurodevelopmental disorders ABCG5 99.99 0 Neurodevelopmental disorders ABHD5 99.85 0 Neurodevelopmental disorders ABI2 100.00 0 Neurodevelopmental disorders ACAD9 100.00 0 Neurodevelopmental disorders ACAT1 93.45 0 Neurodevelopmental disorders ACO2 100.00 0 Neurodevelopmental disorders ACOX1 100.00 0 Neurodevelopmental disorders ACSF3 99.86 0 Neurodevelopmental disorders ACSL4 99.98 0 Neurodevelopmental disorders ACTB 100.00 0 Neurodevelopmental disorders ACTG1 100.00 0 Neurodevelopmental disorders ACVR1 100.00 0 Neurodevelopmental disorders ACY1 100.00 0 Neurodevelopmental disorders ADAR 100.00 0 Neurodevelopmental disorders ADAT3 99.45 0 Neurodevelopmental disorders COQ8A 99.92 0 Neurodevelopmental disorders ADCY5 99.17 0 Neurodevelopmental disorders ADK 100.00 0 Neurodevelopmental disorders ADNP 100.00 0 Neurodevelopmental disorders ADORA1 100.00 0 Neurodevelopmental disorders ADRA2B 100.00 0 Neurodevelopmental disorders ADSL 100.00 0 Neurodevelopmental disorders AFF2 99.91 0 Neurodevelopmental disorders AFF3 100.00 0 Neurodevelopmental disorders AFP 100.00 0 Neurodevelopmental disorders AGA 100.00 0 Neurodevelopmental disorders AGAP2 98.60 0 Neurodevelopmental disorders AGBL4 100.00 0 Neurodevelopmental disorders AGL 100.00 0 Neurodevelopmental disorders AGPAT2 93.10 0 Neurodevelopmental disorders AGXT 100.00 0 Neurodevelopmental disorders AGTR2 100.00 0 Neurodevelopmental disorders AHCY 100.00 0 Neurodevelopmental disorders AHDC1 99.99 0 Neurodevelopmental disorders AHI1 100.00 0 Neurodevelopmental disorders AIFM1 99.98 0 Neurodevelopmental disorders AIMP1 99.97 0 Neurodevelopmental disorders AIMP2 96.68 0 Neurodevelopmental disorders AK1 100.00 0 Neurodevelopmental disorders AKT1 100.00 0 Neurodevelopmental disorders AKT3 100.00 0 Neurodevelopmental disorders ALDH18A1 100.00 0 Neurodevelopmental disorders ALDH3A2 99.94 0 Neurodevelopmental disorders ALDH4A1 96.50 0 Neurodevelopmental disorders ALDH5A1 84.13 0 Neurodevelopmental disorders ALG1 78.28 0 Neurodevelopmental disorders ALG11 100.00 0 Neurodevelopmental disorders ALG12 100.00 0 Neurodevelopmental disorders ALG13 99.53 0 Neurodevelopmental disorders ALG2 99.83 0 Neurodevelopmental disorders ALG3 93.20 0 Neurodevelopmental disorders ALG6 100.00 0 Neurodevelopmental disorders ALG9 98.18 0 Neurodevelopmental disorders ALX1 100.00 0 Neurodevelopmental disorders ALX4 98.04 0 Neurodevelopmental disorders AMER1 99.97 0 Neurodevelopmental disorders AMPD2 99.90 0 Neurodevelopmental disorders AMT 100.00 0 Neurodevelopmental disorders ANK2 99.99 0 Neurodevelopmental disorders ANK3 100.00 0 Neurodevelopmental disorders ANKH 100.00 0 Neurodevelopmental disorders ANKRD11 100.00 0 Neurodevelopmental disorders ANO10 100.00 0 Neurodevelopmental disorders ANO3 100.00 0 Neurodevelopmental disorders ANO5 100.00 0 Neurodevelopmental disorders ANTXR1 99.97 0 Neurodevelopmental disorders AP1S1 100.00 0 Neurodevelopmental disorders AP1S2 100.00 0 Neurodevelopmental disorders AP3B1 100.00 0 Neurodevelopmental disorders AP4B1 100.00 0 Neurodevelopmental disorders AP4E1 99.99 0 Neurodevelopmental disorders AP4M1 100.00 0 Neurodevelopmental disorders AP4S1 100.00 0 Neurodevelopmental disorders APAF1 100.00 0 Neurodevelopmental disorders APC 100.00 0 Neurodevelopmental disorders APOB 98.90 0 Neurodevelopmental disorders APTX 99.96 0 Neurodevelopmental disorders AQP7 99.59 0 Neurodevelopmental disorders AR 100.00 0 Neurodevelopmental disorders ARFGEF2 100.00 0 Neurodevelopmental disorders ARG1 100.00 0 Neurodevelopmental disorders ARHGAP11A 100.00 0 Neurodevelopmental disorders ARHGAP24 99.97 0 Neurodevelopmental disorders ARHGEF2 100.00 0 Neurodevelopmental disorders ARHGEF4 99.85 0 Neurodevelopmental disorders ARHGEF6 100.00 0 Neurodevelopmental disorders ARHGEF9 99.92 0 Neurodevelopmental disorders ARID1A 97.21 0 Neurodevelopmental disorders ARID1B 98.17 0 Neurodevelopmental disorders ARL13B 99.98 0 Neurodevelopmental disorders ARL3 99.80 0 Neurodevelopmental disorders ARL6 100.00 0 Neurodevelopmental disorders ARMC9 100.00 0 Neurodevelopmental disorders ARSL 99.92 0 Neurodevelopmental disorders ARX 88.86 0 Neurodevelopmental disorders ASH1L 100.00 0 Neurodevelopmental disorders ASL 99.96 0 Neurodevelopmental disorders ASNS 97.93 0 Neurodevelopmental disorders ASPA 100.00 0 Neurodevelopmental disorders ASPM 100.00 0 Neurodevelopmental disorders ASS1 98.12 0 Neurodevelopmental disorders ASTN2 98.47 0 Neurodevelopmental disorders ASXL1 99.93 0 Neurodevelopmental disorders ASXL3 100.00 0 Neurodevelopmental disorders ATG5 100.00 0 Neurodevelopmental disorders ATIC 97.39 0 Neurodevelopmental disorders ATL1 99.89 0 Neurodevelopmental disorders ATM 100.00 0 Neurodevelopmental disorders ATP13A2 98.30 0 Neurodevelopmental disorders ATP1A2 99.94 0 Neurodevelopmental disorders ATP2A2 100.00 0 Neurodevelopmental disorders ATP6AP2 98.57 0 Neurodevelopmental disorders ATP6V0A2 99.97 0 Neurodevelopmental disorders ATP7A 100.00 0 Neurodevelopmental disorders ATP8A2 99.91 0 Neurodevelopmental disorders ATRX 99.89 0 Neurodevelopmental disorders ATXN1 100.00 0 Neurodevelopmental disorders ATXN7 98.67 0 Neurodevelopmental disorders AUH 99.24 0 Neurodevelopmental disorders AUTS2 99.82 0 Neurodevelopmental disorders NLRP3 100.00 0 Neurodevelopmental disorders AVPR2 99.37 0 Neurodevelopmental disorders AXIN1 100.00 0 Neurodevelopmental disorders AXL 100.00 0 Neurodevelopmental disorders B3GLCT 94.30 0 Neurodevelopmental disorders B4GAT1 99.99 0 Neurodevelopmental disorders B4GALT1 100.00 0 Neurodevelopmental disorders B4GALT7 90.50 0 Neurodevelopmental disorders BBS1 100.00 0 Neurodevelopmental disorders BBS10 100.00 0 Neurodevelopmental disorders BBS12 100.00 0 Neurodevelopmental disorders BBS2 100.00 0 Neurodevelopmental disorders BBS4 99.97 0 Neurodevelopmental disorders BBS5 100.00 0 Neurodevelopmental disorders BBS7 99.99 0 Neurodevelopmental disorders BBS9 99.93 0 Neurodevelopmental disorders BCKDHA 99.90 0 Neurodevelopmental disorders BCKDHB 100.00 0 Neurodevelopmental disorders BCL11A 100.00 0 Neurodevelopmental disorders BCOR 99.79 0 Neurodevelopmental disorders BCS1L 100.00 0 Neurodevelopmental disorders BIN1 99.94 0 Neurodevelopmental disorders BIRC6 99.99 0 Neurodevelopmental disorders BLM 100.00 0 Neurodevelopmental disorders BRAF 96.83 0 Neurodevelopmental disorders BRCA2 100.00 0 Neurodevelopmental disorders BRD4 99.43 0 Neurodevelopmental disorders BRF1 93.75 0 Neurodevelopmental disorders BRIP1 100.00 0 Neurodevelopmental disorders BRWD3 99.91 0 Neurodevelopmental disorders BSCL2 100.00 0 Neurodevelopmental disorders BTD 100.00 0 Neurodevelopmental disorders BUB1B 100.00 0 Neurodevelopmental disorders TSPOAP1 99.52 0 Neurodevelopmental disorders TWNK 100.00 0 Neurodevelopmental disorders C12ORF57 100.00 0 Neurodevelopmental disorders MTRFR 100.00 0 Neurodevelopmental disorders DIPK2A 98.86 0 Neurodevelopmental disorders CPLANE1 100.00 0 Neurodevelopmental disorders CARNMT1 97.76 0 Neurodevelopmental disorders CA2 99.97 0 Neurodevelopmental disorders CA8 100.00 0 Neurodevelopmental disorders CACNA1A 99.53 0 Neurodevelopmental disorders CACNA1B 99.04 0 Neurodevelopmental disorders CACNA1C 99.97 0 Neurodevelopmental disorders CACNA1D 99.81 0 Neurodevelopmental disorders CACNA1F 99.02 0 Neurodevelopmental disorders CACNA1G 99.97 0 Neurodevelopmental disorders CACNA1H 98.10 0 Neurodevelopmental disorders CACNA2D3 99.31 0 Neurodevelopmental disorders CACNB2 100.00 0 Neurodevelopmental disorders CACNG2 100.00 0 Neurodevelopmental disorders CACNG7 99.94 0 Neurodevelopmental disorders CALM1 100.00 0 Neurodevelopmental disorders CAMTA1 99.98 0 Neurodevelopmental disorders CANT1 100.00 0 Neurodevelopmental disorders CAPN12 100.00 0 Neurodevelopmental disorders CASK 99.99 0 Neurodevelopmental disorders CBL 100.00 0 Neurodevelopmental disorders CBS 99.85 0 Neurodevelopmental disorders CC2D1A 99.45 0 Neurodevelopmental disorders CC2D2A 100.00 0 Neurodevelopmental disorders CCAR2 99.98 0 Neurodevelopmental disorders CCBE1 99.32 0 Neurodevelopmental disorders CFAP53 100.00 0 Neurodevelopmental disorders CCDC174 100.00 0 Neurodevelopmental disorders CCDC22 97.87 0 Neurodevelopmental disorders CCDC39 100.00 0 Neurodevelopmental disorders CCDC78 100.00 0 Neurodevelopmental disorders CCDC88C 99.64 0 Neurodevelopmental disorders CCNT1 100.00 0 Neurodevelopmental disorders CCSER1 100.00 0 Neurodevelopmental disorders CD163L1 99.94 0 Neurodevelopmental disorders CDC42BPB 99.67 0 Neurodevelopmental disorders CDH11 100.00 0 Neurodevelopmental disorders CDH15 94.37 0 Neurodevelopmental disorders CDK5RAP2 100.00 0 Neurodevelopmental disorders CDKL5 99.77 0 Neurodevelopmental disorders CDKN1C 85.53 0 Neurodevelopmental disorders CDON 100.00 0 Neurodevelopmental disorders CELSR1 95.69 0 Neurodevelopmental disorders CENPJ 100.00 0 Neurodevelopmental disorders CEP135 99.96 0 Neurodevelopmental disorders CEP152 100.00 0 Neurodevelopmental disorders CEP290 100.00 0 Neurodevelopmental disorders CEP41 100.00 0 Neurodevelopmental disorders CEP57 100.00 0 Neurodevelopmental disorders CHAMP1 100.00 0 Neurodevelopmental disorders CHAT 99.97 0 Neurodevelopmental disorders CHD1 100.00 0 Neurodevelopmental disorders CHD1L 99.95 0 Neurodevelopmental disorders CHD2 100.00 0 Neurodevelopmental disorders CHD3 97.53 0 Neurodevelopmental disorders CHD4 99.13 0 Neurodevelopmental disorders CHD7 100.00 0 Neurodevelopmental disorders CHD8 100.00 0 Neurodevelopmental disorders CHKB 99.75 0 Neurodevelopmental disorders CHRNA2 99.99 0 Neurodevelopmental disorders CHRNA4 94.66 0 Neurodevelopmental disorders CHRND 100.00 0 Neurodevelopmental disorders CHST11 100.00 0 Neurodevelopmental disorders CIC 99.22 0 Neurodevelopmental disorders CLCN4 100.00 0 Neurodevelopmental disorders CLCN7 95.85 0 Neurodevelopmental disorders CLCNKB 99.96 0 Neurodevelopmental disorders CLIC2 99.96 0 Neurodevelopmental disorders CLIP1 100.00 0 Neurodevelopmental disorders CLN3 100.00 0 Neurodevelopmental disorders CLN5 98.80 0 Neurodevelopmental disorders CLN6 100.00 0 Neurodevelopmental disorders CLN8 100.00 0 Neurodevelopmental disorders CLPB 99.94 0 Neurodevelopmental disorders CMIP 99.43 0 Neurodevelopmental disorders CNKSR2 99.82 0 Neurodevelopmental disorders CNOT1 99.97 0 Neurodevelopmental disorders CNOT3 100.00 0 Neurodevelopmental disorders CNOT4 100.00 0 Neurodevelopmental disorders CNOT6 100.00 0 Neurodevelopmental disorders CNTN3 100.00 0 Neurodevelopmental disorders CNTN4 100.00 0 Neurodevelopmental disorders CNTNAP2 99.10 0 Neurodevelopmental disorders COA3 100.00 0 Neurodevelopmental disorders COG1 99.01 0 Neurodevelopmental disorders COG5 99.95 0 Neurodevelopmental disorders COG6 100.00 0 Neurodevelopmental disorders COG7 100.00 0 Neurodevelopmental disorders COG8 99.96 0 Neurodevelopmental disorders COL11A1 100.00 0 Neurodevelopmental disorders COL1A2 99.33 0 Neurodevelopmental disorders COL25A1 99.96 0 Neurodevelopmental disorders COL27A1 99.65 0 Neurodevelopmental disorders COL4A1 98.48 0 Neurodevelopmental disorders COL4A2 100.00 0 Neurodevelopmental disorders CERT1 99.99 0 Neurodevelopmental disorders COLEC11 100.00 0 Neurodevelopmental disorders COPB2 99.91 0 Neurodevelopmental disorders COQ2 99.66 0 Neurodevelopmental disorders COX10 100.00 0 Neurodevelopmental disorders COX15 99.99 0 Neurodevelopmental disorders CP 100.00 0 Neurodevelopmental disorders CYP2A6 100.00 0 Neurodevelopmental disorders CYP21A2 100.00 0 Neurodevelopmental disorders CRADD 100.00 0 Neurodevelopmental disorders CRBN 100.00 0 Neurodevelopmental disorders CREB1 99.99 0 Neurodevelopmental disorders CREBBP 99.97 0 Neurodevelopmental disorders CSMD1 100.00 0 Neurodevelopmental disorders CSNK2A1 100.00 0 Neurodevelopmental disorders CSTF2T 100.00 0 Neurodevelopmental disorders CTC1 99.70 0 Neurodevelopmental disorders CTCF 100.00 0 Neurodevelopmental disorders CTDP1 92.47 0 Neurodevelopmental disorders CTNNB1 100.00 0 Neurodevelopmental disorders CTSA 99.94 0 Neurodevelopmental disorders CTSD 93.41 0 Neurodevelopmental disorders CTTNBP2 99.83 0 Neurodevelopmental disorders CUBN 100.00 0 Neurodevelopmental disorders CUL3 100.00 0 Neurodevelopmental disorders CUL4B 99.51 0 Neurodevelopmental disorders CUL5 99.99 0 Neurodevelopmental disorders CUX2 99.78 0 Neurodevelopmental disorders CYB5R3 100.00 0 Neurodevelopmental disorders CYFIP1 99.90 0 Neurodevelopmental disorders CYP27A1 99.38 0 Neurodevelopmental disorders D2HGDH 99.95 0 Neurodevelopmental disorders DAG1 100.00 0 Neurodevelopmental disorders DAGLA 99.99 0 Neurodevelopmental disorders DARS2 100.00 0 Neurodevelopmental disorders DBT 100.00 0 Neurodevelopmental disorders DCAF17 96.96 0 Neurodevelopmental disorders DCPS 100.00 0 Neurodevelopmental disorders DCX 99.94 0 Neurodevelopmental disorders DDHD2 100.00 0 Neurodevelopmental disorders DDX11 99.92 0 Neurodevelopmental disorders DDX3X 100.00 0 Neurodevelopmental disorders DEAF1 97.27 0 Neurodevelopmental disorders DHCR24 98.73 0 Neurodevelopmental disorders DHCR7 99.97 0 Neurodevelopmental disorders DHFR 91.86 0 Neurodevelopmental disorders DHTKD1 99.54 0 Neurodevelopmental disorders DHX9 100.00 0 Neurodevelopmental disorders DIAPH1 99.95 0 Neurodevelopmental disorders DIAPH3 100.00 0 Neurodevelopmental disorders DIP2A 99.87 0 Neurodevelopmental disorders DIP2B 99.66 0 Neurodevelopmental disorders DISC1 0.00 0 Neurodevelopmental disorders DKC1 99.88 0 Neurodevelopmental disorders DLD 100.00 0 Neurodevelopmental disorders DLG2 100.00 0 Neurodevelopmental disorders DLG3 99.58 0 Neurodevelopmental disorders DLG4 100.00 0 Neurodevelopmental disorders DLGAP1 99.92 0 Neurodevelopmental disorders DMD 99.96 0 Neurodevelopmental disorders DMPK 99.91 0 Neurodevelopmental disorders DNAH5 100.00 0 Neurodevelopmental disorders DNAJC19 99.65 0 Neurodevelopmental disorders DNM1 93.52 0 Neurodevelopmental disorders DNMT1 99.54 0 Neurodevelopmental disorders DNMT3A 99.73 0 Neurodevelopmental disorders DNMT3B 100.00 0 Neurodevelopmental disorders DOCK6 99.15 0 Neurodevelopmental disorders DOCK8 99.94 0 Neurodevelopmental disorders DPAGT1 100.00 0 Neurodevelopmental disorders DPF2 100.00 0 Neurodevelopmental disorders DPH1 99.97 0 Neurodevelopmental disorders DPM1 100.00 0 Neurodevelopmental disorders DPP6 99.83 0 Neurodevelopmental disorders DPYD 100.00 0 Neurodevelopmental disorders DSCAM 99.93 0 Neurodevelopmental disorders DST 100.00 0 Neurodevelopmental disorders DUSP15 83.59 0 Neurodevelopmental disorders DYM 100.00 0 Neurodevelopmental disorders DYNC1H1 99.92 0 Neurodevelopmental disorders DYRK1A 100.00 0 Neurodevelopmental disorders GLB1 100.00 0 Neurodevelopmental disorders ECM2 100.00 0 Neurodevelopmental disorders EDC3 100.00 0 Neurodevelopmental disorders EFCAB5 99.99 0 Neurodevelopmental disorders EFNB1 100.00 0 Neurodevelopmental disorders EFNB2 100.00 0 Neurodevelopmental disorders EFL1 100.00 0 Neurodevelopmental disorders EFTUD2 99.99 0 Neurodevelopmental disorders EHMT1 97.78 0 Neurodevelopmental disorders EI24 99.67 0 Neurodevelopmental disorders EIF2AK3 96.33 0 Neurodevelopmental disorders EIF2S3 100.00 0 Neurodevelopmental disorders EIF3G 100.00 0 Neurodevelopmental disorders EIF4A1 99.36 0 Neurodevelopmental disorders EIF4G1 100.00 0 Neurodevelopmental disorders ELAVL2 100.00 0 Neurodevelopmental disorders ELK1 99.85 0 Neurodevelopmental disorders ELOVL4 100.00 0 Neurodevelopmental disorders ELP2 100.00 0 Neurodevelopmental disorders EMC1 100.00 0 Neurodevelopmental disorders EML1 98.26 0 Neurodevelopmental disorders EMX2 99.97 0 Neurodevelopmental disorders EN2 99.85 0 Neurodevelopmental disorders EP300 100.00 0 Neurodevelopmental disorders EP400 100.00 0 Neurodevelopmental disorders EPB41L1 100.00 0 Neurodevelopmental disorders EPHA5 99.93 0 Neurodevelopmental disorders EPHB2 96.50 0 Neurodevelopmental disorders ERBIN 100.00 0 Neurodevelopmental disorders ERBB4 100.00 0 Neurodevelopmental disorders ERCC2 99.22 0 Neurodevelopmental disorders ERCC3 100.00 0 Neurodevelopmental disorders ERCC5 100.00 0 Neurodevelopmental disorders ERCC6 100.00 0 Neurodevelopmental disorders ERCC8 100.00 0 Neurodevelopmental disorders ERLIN2 100.00 0 Neurodevelopmental disorders ESCO2 100.00 0 Neurodevelopmental disorders ETFB 100.00 0 Neurodevelopmental disorders ETHE1 97.84 0 Neurodevelopmental disorders EXOC3L2 99.73 0 Neurodevelopmental disorders EXOSC3 100.00 0 Neurodevelopmental disorders EXT1 100.00 0 Neurodevelopmental disorders EZH2 100.00 0 Neurodevelopmental disorders EZR 100.00 0 Neurodevelopmental disorders F5 99.99 0 Neurodevelopmental disorders FAAH2 100.00 0 Neurodevelopmental disorders OTULIN 87.40 0 Neurodevelopmental disorders HYCC1 100.00 0 Neurodevelopmental disorders FAM177A1 100.00 0 Neurodevelopmental disorders FANCB 100.00 0 Neurodevelopmental disorders FANCD2 100.00 0 Neurodevelopmental disorders FANCG 99.98 0 Neurodevelopmental disorders FBLN5 100.00 0 Neurodevelopmental disorders FBN1 100.00 0 Neurodevelopmental disorders FBN2 100.00 0 Neurodevelopmental disorders FBXO31 94.11 0 Neurodevelopmental disorders FBXO33 92.42 0 Neurodevelopmental disorders FEZF2 99.95 0 Neurodevelopmental disorders FGD1 99.24 0 Neurodevelopmental disorders FGF14 100.00 0 Neurodevelopmental disorders FGFR1 99.94 0 Neurodevelopmental disorders FGFR2 100.00 0 Neurodevelopmental disorders FGFR3 99.24 0 Neurodevelopmental disorders FGG 100.00 0 Neurodevelopmental disorders FH 100.00 0 Neurodevelopmental disorders FHIT 100.00 0 Neurodevelopmental disorders FIGN 100.00 0 Neurodevelopmental disorders FKRP 100.00 0 Neurodevelopmental disorders FKTN 100.00 0 Neurodevelopmental disorders FLNA 99.75 0 Neurodevelopmental disorders FLVCR1 100.00 0 Neurodevelopmental disorders FMN2 100.00 0 Neurodevelopmental disorders FMR1 99.99 0 Neurodevelopmental disorders FOLR1 100.00 0 Neurodevelopmental disorders FOXG1 92.10 0 Neurodevelopmental disorders FOXP1 100.00 0 Neurodevelopmental disorders FOXP2 99.61 0 Neurodevelopmental disorders FOXP3 99.44 0 Neurodevelopmental disorders FRAS1 100.00 0 Neurodevelopmental disorders FRMPD4 99.90 0 Neurodevelopmental disorders FRRS1L 82.37 0 Neurodevelopmental disorders FTCD 96.32 0 Neurodevelopmental disorders FTO 100.00 0 Neurodevelopmental disorders FTSJ1 100.00 0 Neurodevelopmental disorders FUCA1 99.91 0 Neurodevelopmental disorders FXR1 99.74 0 Neurodevelopmental disorders G6PC3 100.00 0 Neurodevelopmental disorders GABRA1 100.00 0 Neurodevelopmental disorders GABRA5 100.00 0 Neurodevelopmental disorders GABRB3 100.00 0 Neurodevelopmental disorders GABRG2 91.70 0 Neurodevelopmental disorders GABRG3 99.57 0 Neurodevelopmental disorders GAD1 100.00 0 Neurodevelopmental disorders GALE 100.00 0 Neurodevelopmental disorders GALK1 99.40 0 Neurodevelopmental disorders GALNT18 100.00 0 Neurodevelopmental disorders GALT 100.00 0 Neurodevelopmental disorders GAMT 97.00 0 Neurodevelopmental disorders GAN 98.52 0 Neurodevelopmental disorders GARNL3 100.00 0 Neurodevelopmental disorders GARS1 97.89 0 Neurodevelopmental disorders GAS2 100.00 0 Neurodevelopmental disorders GATAD2B 100.00 0 Neurodevelopmental disorders GATM 98.74 0 Neurodevelopmental disorders GBA1 100.00 0 Neurodevelopmental disorders GBE1 100.00 0 Neurodevelopmental disorders GCH1 99.71 0 Neurodevelopmental disorders GCK 99.13 0 Neurodevelopmental disorders GCOM1 95.06 0 Neurodevelopmental disorders GCSH 73.97 0 Neurodevelopmental disorders GDI1 99.45 0 Neurodevelopmental disorders GFAP 100.00 0 Neurodevelopmental disorders GFM1 100.00 0 Neurodevelopmental disorders GHR 99.41 0 Neurodevelopmental disorders GIGYF1 99.99 0 Neurodevelopmental disorders GIMAP8 100.00 0 Neurodevelopmental disorders GJB1 100.00 0 Neurodevelopmental disorders GJB6 100.00 0 Neurodevelopmental disorders GJC2 96.72 0 Neurodevelopmental disorders GK 98.88 0 Neurodevelopmental disorders GLDC 97.39 0 Neurodevelopmental disorders GLI2 96.28 0 Neurodevelopmental disorders GLI3 100.00 0 Neurodevelopmental disorders GLO1 100.00 0 Neurodevelopmental disorders GLRA1 100.00 0 Neurodevelopmental disorders GLUL 100.00 0 Neurodevelopmental disorders GLYCTK 98.86 0 Neurodevelopmental disorders GM2A 100.00 0 Neurodevelopmental disorders GMPPA 100.00 0 Neurodevelopmental disorders GMPPB 100.00 0 Neurodevelopmental disorders GNAO1 100.00 0 Neurodevelopmental disorders GNAS 100.00 0 Neurodevelopmental disorders GNB1 100.00 0 Neurodevelopmental disorders GNB5 98.67 0 Neurodevelopmental disorders GNPAT 100.00 0 Neurodevelopmental disorders GNPTAB 99.91 0 Neurodevelopmental disorders GNPTG 95.92 0 Neurodevelopmental disorders GNRHR 100.00 0 Neurodevelopmental disorders GNS 100.00 0 Neurodevelopmental disorders GORASP2 99.76 0 Neurodevelopmental disorders GP1BB 44.39 0 Neurodevelopmental disorders GPC3 99.72 0 Neurodevelopmental disorders GPHN 100.00 0 Neurodevelopmental disorders GPKOW 99.98 0 Neurodevelopmental disorders GPR37 100.00 0 Neurodevelopmental disorders ADGRG1 99.99 0 Neurodevelopmental disorders GPT2 97.87 0 Neurodevelopmental disorders GRB2 100.00 0 Neurodevelopmental disorders GRIA3 99.99 0 Neurodevelopmental disorders GRIA4 100.00 0 Neurodevelopmental disorders GRID2 100.00 0 Neurodevelopmental disorders GRIK2 100.00 0 Neurodevelopmental disorders GRIN1 99.80 0 Neurodevelopmental disorders GRIN2A 100.00 0 Neurodevelopmental disorders GRIN2B 100.00 0 Neurodevelopmental disorders GRIN3B 87.60 0 Neurodevelopmental disorders GRM1 99.99 0 Neurodevelopmental disorders GSE1 99.15 0 Neurodevelopmental disorders GSPT2 99.99 0 Neurodevelopmental disorders GSS 100.00 0 Neurodevelopmental disorders GTF2H5 100.00 0 Neurodevelopmental disorders GTF2IRD1 99.04 0 Neurodevelopmental disorders GTF3C1 100.00 0 Neurodevelopmental disorders GTPBP2 99.78 0 Neurodevelopmental disorders GUSB 97.13 0 Neurodevelopmental disorders GYS2 100.00 0 Neurodevelopmental disorders HAL 99.95 0 Neurodevelopmental disorders HAX1 100.00 0 Neurodevelopmental disorders HCCS 100.00 0 Neurodevelopmental disorders HCFC1 99.85 0 Neurodevelopmental disorders HCN1 99.93 0 Neurodevelopmental disorders HDAC4 99.86 0 Neurodevelopmental disorders HDAC6 99.91 0 Neurodevelopmental disorders HDAC8 99.75 0 Neurodevelopmental disorders HDAC9 100.00 0 Neurodevelopmental disorders HECTD1 100.00 0 Neurodevelopmental disorders HECW2 100.00 0 Neurodevelopmental disorders HEPACAM 99.85 0 Neurodevelopmental disorders HERC1 100.00 0 Neurodevelopmental disorders HERC2 97.66 0 Neurodevelopmental disorders HESX1 100.00 0 Neurodevelopmental disorders HEXA 100.00 0 Neurodevelopmental disorders HEXB 99.19 0 Neurodevelopmental disorders H1-4 99.57 0 Neurodevelopmental disorders H4C2 100.00 0 Neurodevelopmental disorders HIVEP2 99.91 0 Neurodevelopmental disorders HIVEP3 100.00 0 Neurodevelopmental disorders HLCS 100.00 0 Neurodevelopmental disorders HMGA2 93.67 0 Neurodevelopmental disorders HNMT 100.00 0 Neurodevelopmental disorders HNRNPH1 100.00 0 Neurodevelopmental disorders HNRNPU 99.82 0 Neurodevelopmental disorders HNRNPUL1 99.31 0 Neurodevelopmental disorders HOXA1 100.00 0 Neurodevelopmental disorders HOXB1 100.00 0 Neurodevelopmental disorders HOXD10 100.00 0 Neurodevelopmental disorders HPD 100.00 0 Neurodevelopmental disorders HPRT1 92.71 0 Neurodevelopmental disorders HRAS 100.00 0 Neurodevelopmental disorders HSD17B10 100.00 0 Neurodevelopmental disorders HSPA4 100.00 0 Neurodevelopmental disorders HSPD1 95.18 0 Neurodevelopmental disorders HTR2A 100.00 0 Neurodevelopmental disorders HUWE1 99.95 0 Neurodevelopmental disorders IARS1 100.00 0 Neurodevelopmental disorders IDH2 93.11 0 Neurodevelopmental disorders IDS 99.88 0 Neurodevelopmental disorders IDUA 91.86 0 Neurodevelopmental disorders IER3IP1 99.44 0 Neurodevelopmental disorders IFT172 100.00 0 Neurodevelopmental disorders IGBP1 99.53 0 Neurodevelopmental disorders IGF1 100.00 0 Neurodevelopmental disorders IGF1R 100.00 0 Neurodevelopmental disorders IKBKG 96.89 0 Neurodevelopmental disorders IL1RAPL1 99.95 0 Neurodevelopmental disorders ILF2 100.00 0 Neurodevelopmental disorders INPP5E 99.14 0 Neurodevelopmental disorders INSR 96.68 0 Neurodevelopmental disorders INTU 100.00 0 Neurodevelopmental disorders IQGAP3 100.00 0 Neurodevelopmental disorders IQSEC2 98.53 0 Neurodevelopmental disorders IRS1 100.00 0 Neurodevelopmental disorders IRX5 98.24 0 Neurodevelopmental disorders CRPPA 95.50 0 Neurodevelopmental disorders ITGA7 100.00 0 Neurodevelopmental disorders ITGB3 99.17 0 Neurodevelopmental disorders ITPR1 99.99 0 Neurodevelopmental disorders ITSN1 99.99 0 Neurodevelopmental disorders JADE2 100.00 0 Neurodevelopmental disorders JAG1 99.87 0 Neurodevelopmental disorders JAM3 99.88 0 Neurodevelopmental disorders JMJD1C 100.00 0 Neurodevelopmental disorders JUP 100.00 0 Neurodevelopmental disorders KANK1 100.00 0 Neurodevelopmental disorders KANSL1 100.00 0 Neurodevelopmental disorders KAT6A 100.00 0 Neurodevelopmental disorders KAT6B 100.00 0 Neurodevelopmental disorders KATNAL2 100.00 0 Neurodevelopmental disorders KATNB1 99.90 0 Neurodevelopmental disorders KCNA1 100.00 0 Neurodevelopmental disorders KCNH1 100.00 0 Neurodevelopmental disorders KCNJ10 100.00 0 Neurodevelopmental disorders KCNJ11 100.00 0 Neurodevelopmental disorders KCNJ6 100.00 0 Neurodevelopmental disorders KCNK9 100.00 0 Neurodevelopmental disorders KCNMA1 99.93 0 Neurodevelopmental disorders KCNQ2 99.92 0 Neurodevelopmental disorders KCNQ3 98.20 0 Neurodevelopmental disorders KCNQ4 94.57 0 Neurodevelopmental disorders KCNT1 98.96 0 Neurodevelopmental disorders KCTD7 100.00 0 Neurodevelopmental disorders KDM1A 99.82 0 Neurodevelopmental disorders KDM5A 100.00 0 Neurodevelopmental disorders KDM5B 100.00 0 Neurodevelopmental disorders KDM5C 99.97 0 Neurodevelopmental disorders KDM6A 99.72 0 Neurodevelopmental disorders KDM6B 99.91 0 Neurodevelopmental disorders RUBCN 96.60 0 Neurodevelopmental disorders KIAA0753 100.00 0 Neurodevelopmental disorders WASHC4 98.56 0 Neurodevelopmental disorders KIAA1109 99.99 0 Neurodevelopmental disorders KIFBP 100.00 0 Neurodevelopmental disorders CIP2A 100.00 0 Neurodevelopmental disorders LNPK 99.88 0 Neurodevelopmental disorders NEXMIF 100.00 0 Neurodevelopmental disorders KIF11 100.00 0 Neurodevelopmental disorders KIF16B 99.96 0 Neurodevelopmental disorders KIF1A 98.74 0 Neurodevelopmental disorders KIF21A 98.54 0 Neurodevelopmental disorders KIF26B 99.95 0 Neurodevelopmental disorders KIF2A 99.97 0 Neurodevelopmental disorders KIF4A 99.86 0 Neurodevelopmental disorders KIF5A 100.00 0 Neurodevelopmental disorders KIF5C 100.00 0 Neurodevelopmental disorders KIF7 99.64 0 Neurodevelopmental disorders KIRREL3 100.00 0 Neurodevelopmental disorders KIT 99.95 0 Neurodevelopmental disorders KLC2 100.00 0 Neurodevelopmental disorders KLF7 100.00 0 Neurodevelopmental disorders KLF8 99.94 0 Neurodevelopmental disorders KMT2A 99.70 0 Neurodevelopmental disorders KMT2C 100.00 0 Neurodevelopmental disorders KMT2D 99.98 0 Neurodevelopmental disorders KMT2E 99.98 0 Neurodevelopmental disorders KPTN 100.00 0 Neurodevelopmental disorders KRAS 100.00 0 Neurodevelopmental disorders KRBOX4 100.00 0 Neurodevelopmental disorders KRT18 72.23 0 Neurodevelopmental disorders KRT24 100.00 0 Neurodevelopmental disorders KRT8 94.97 0 Neurodevelopmental disorders KYNU 100.00 0 Neurodevelopmental disorders L1CAM 99.98 0 Neurodevelopmental disorders L2HGDH 99.75 0 Neurodevelopmental disorders LAMA1 99.79 0 Neurodevelopmental disorders LAMA2 100.00 0 Neurodevelopmental disorders LAMB1 100.00 0 Neurodevelopmental disorders LAMC3 98.42 0 Neurodevelopmental disorders LAMP2 99.60 0 Neurodevelopmental disorders LARGE1 100.00 0 Neurodevelopmental disorders LARP7 100.00 0 Neurodevelopmental disorders LAS1L 99.53 0 Neurodevelopmental disorders LBR 100.00 0 Neurodevelopmental disorders LCT 100.00 0 Neurodevelopmental disorders LHX3 90.58 0 Neurodevelopmental disorders LIG4 100.00 0 Neurodevelopmental disorders LINS1 100.00 0 Neurodevelopmental disorders LMAN2L 100.00 0 Neurodevelopmental disorders LMBRD1 100.00 0 Neurodevelopmental disorders ADGRL2 99.98 0 Neurodevelopmental disorders LRP1 100.00 0 Neurodevelopmental disorders LRP2 99.71 0 Neurodevelopmental disorders LRP5 96.72 0 Neurodevelopmental disorders LRPPRC 98.80 0 Neurodevelopmental disorders LRRC7 100.00 0 Neurodevelopmental disorders LYST 100.00 0 Neurodevelopmental disorders MAGEL2 99.88 0 Neurodevelopmental disorders MAGT1 100.00 0 Neurodevelopmental disorders MAN1B1 99.81 0 Neurodevelopmental disorders MAN2B1 99.30 0 Neurodevelopmental disorders MANBA 99.49 0 Neurodevelopmental disorders MAOA 98.99 0 Neurodevelopmental disorders MAP1B 99.93 0 Neurodevelopmental disorders MAP2 100.00 0 Neurodevelopmental disorders MAP2K1 100.00 0 Neurodevelopmental disorders MAP2K2 99.99 0 Neurodevelopmental disorders MAPK1 99.88 0 Neurodevelopmental disorders MAPK3 99.96 0 Neurodevelopmental disorders MAPRE2 100.00 0 Neurodevelopmental disorders MAPT 100.00 0 Neurodevelopmental disorders MAT1A 100.00 0 Neurodevelopmental disorders MBD3 100.00 0 Neurodevelopmental disorders MBD5 100.00 0 Neurodevelopmental disorders MBTPS2 100.00 0 Neurodevelopmental disorders MCCC1 99.77 0 Neurodevelopmental disorders MCCC2 99.65 0 Neurodevelopmental disorders MCOLN1 95.75 0 Neurodevelopmental disorders MCPH1 99.70 0 Neurodevelopmental disorders MDM2 100.00 0 Neurodevelopmental disorders MECP2 96.46 0 Neurodevelopmental disorders MED12 99.02 0 Neurodevelopmental disorders MED13L 99.95 0 Neurodevelopmental disorders MED17 100.00 0 Neurodevelopmental disorders MED23 99.94 0 Neurodevelopmental disorders MED29 100.00 0 Neurodevelopmental disorders MEF2C 100.00 0 Neurodevelopmental disorders MET 100.00 0 Neurodevelopmental disorders METTL23 100.00 0 Neurodevelopmental disorders MFRP 100.00 0 Neurodevelopmental disorders MFSD8 100.00 0 Neurodevelopmental disorders MGAT2 100.00 0 Neurodevelopmental disorders MIB1 100.00 0 Neurodevelopmental disorders MID1 100.00 0 Neurodevelopmental disorders MID2 100.00 0 Neurodevelopmental disorders MIR222 100.00 0 Neurodevelopmental disorders MKKS 100.00 0 Neurodevelopmental disorders MLH1 100.00 0 Neurodevelopmental disorders MLYCD 96.09 0 Neurodevelopmental disorders MMAA 100.00 0 Neurodevelopmental disorders MMACHC 100.00 0 Neurodevelopmental disorders MMADHC 100.00 0 Neurodevelopmental disorders MMP21 97.88 0 Neurodevelopmental disorders MOCS1 99.94 0 Neurodevelopmental disorders MOCS2 100.00 0 Neurodevelopmental disorders MOGS 98.86 0 Neurodevelopmental disorders MOV10 100.00 0 Neurodevelopmental disorders MPDU1 100.00 0 Neurodevelopmental disorders MPDZ 100.00 0 Neurodevelopmental disorders MPHOSPH8 100.00 0 Neurodevelopmental disorders MPI 100.00 0 Neurodevelopmental disorders MPLKIP 100.00 0 Neurodevelopmental disorders MPZ 99.80 0 Neurodevelopmental disorders MRAP 100.00 0 Neurodevelopmental disorders MRPS22 98.08 0 Neurodevelopmental disorders MSH6 99.89 0 Neurodevelopmental disorders MST1R 100.00 0 Neurodevelopmental disorders MTFMT 97.83 0 Neurodevelopmental disorders MTHFR 100.00 0 Neurodevelopmental disorders MTHFS 94.81 0 Neurodevelopmental disorders MTM1 99.91 0 Neurodevelopmental disorders MTMR2 99.55 0 Neurodevelopmental disorders MTR 100.00 0 Neurodevelopmental disorders MTRR 100.00 0 Neurodevelopmental disorders MMUT 99.99 0 Neurodevelopmental disorders MVK 100.00 0 Neurodevelopmental disorders MYCN 99.89 0 Neurodevelopmental disorders MYH10 100.00 0 Neurodevelopmental disorders MYH7B 99.85 0 Neurodevelopmental disorders MYH9 99.99 0 Neurodevelopmental disorders MYO1E 99.57 0 Neurodevelopmental disorders MYO3A 100.00 0 Neurodevelopmental disorders MYO5A 99.67 0 Neurodevelopmental disorders MYO7A 99.88 0 Neurodevelopmental disorders MYOC 100.00 0 Neurodevelopmental disorders MYT1L 100.00 0 Neurodevelopmental disorders NAA10 96.95 0 Neurodevelopmental disorders NAA15 100.00 0 Neurodevelopmental disorders NAGA 100.00 0 Neurodevelopmental disorders NAGLU 96.69 0 Neurodevelopmental disorders NALCN 100.00 0 Neurodevelopmental disorders NANS 100.00 0 Neurodevelopmental disorders NAV2 100.00 0 Neurodevelopmental disorders NBEA 97.18 0 Neurodevelopmental disorders NBN 100.00 0 Neurodevelopmental disorders NCKAP1 100.00 0 Neurodevelopmental disorders NDE1 100.00 0 Neurodevelopmental disorders NDP 100.00 0 Neurodevelopmental disorders NDST1 100.00 0 Neurodevelopmental disorders NDUFA1 100.00 0 Neurodevelopmental disorders NDUFA10 96.45 0 Neurodevelopmental disorders NDUFA11 80.54 0 Neurodevelopmental disorders NDUFA12 100.00 0 Neurodevelopmental disorders NDUFAF5 99.96 0 Neurodevelopmental disorders NDUFS1 100.00 0 Neurodevelopmental disorders NDUFS2 100.00 0 Neurodevelopmental disorders NDUFS3 100.00 0 Neurodevelopmental disorders NDUFS4 99.96 0 Neurodevelopmental disorders NDUFS7 93.34 0 Neurodevelopmental disorders NDUFS8 100.00 0 Neurodevelopmental disorders NDUFV1 99.62 0 Neurodevelopmental disorders NEDD4L 98.66 0 Neurodevelopmental disorders NEDD9 100.00 0 Neurodevelopmental disorders NEU1 100.00 0 Neurodevelopmental disorders NF1 98.78 0 Neurodevelopmental disorders NFATC1 99.80 0 Neurodevelopmental disorders NFIA 99.95 0 Neurodevelopmental disorders NFIX 94.60 0 Neurodevelopmental disorders NGF 100.00 0 Neurodevelopmental disorders NHEJ1 100.00 0 Neurodevelopmental disorders NHP2 100.00 0 Neurodevelopmental disorders NHS 92.80 0 Neurodevelopmental disorders NIPBL 99.48 0 Neurodevelopmental disorders NKX2-1 97.73 0 Neurodevelopmental disorders NLGN1 100.00 0 Neurodevelopmental disorders NLGN3 99.95 0 Neurodevelopmental disorders NLGN4X 100.00 0 Neurodevelopmental disorders NLGN4Y 60.20 0 Neurodevelopmental disorders NOG 99.95 0 Neurodevelopmental disorders NONO 100.00 0 Neurodevelopmental disorders NOTCH3 93.46 0 Neurodevelopmental disorders NPC1 97.50 0 Neurodevelopmental disorders NPC2 100.00 0 Neurodevelopmental disorders NPHP1 100.00 0 Neurodevelopmental disorders NPHP3 99.99 0 Neurodevelopmental disorders NR2F1 99.99 0 Neurodevelopmental disorders NR3C2 99.99 0 Neurodevelopmental disorders NR4A2 100.00 0 Neurodevelopmental disorders NRAS 100.00 0 Neurodevelopmental disorders NRCAM 100.00 0 Neurodevelopmental disorders NRG3 99.55 0 Neurodevelopmental disorders NRIP1 100.00 0 Neurodevelopmental disorders NRXN1 99.87 0 Neurodevelopmental disorders NRXN2 93.76 0 Neurodevelopmental disorders NSD1 100.00 0 Neurodevelopmental disorders NSDHL 100.00 0 Neurodevelopmental disorders NSUN2 99.69 0 Neurodevelopmental disorders NTRK1 98.36 0 Neurodevelopmental disorders NTRK2 100.00 0 Neurodevelopmental disorders NUAK1 99.69 0 Neurodevelopmental disorders NXF5 98.08 0 Neurodevelopmental disorders OBSL1 99.88 0 Neurodevelopmental disorders OCA2 99.49 0 Neurodevelopmental disorders OCLN 100.00 0 Neurodevelopmental disorders OCRL 98.81 0 Neurodevelopmental disorders ODC1 100.00 0 Neurodevelopmental disorders OFD1 97.13 0 Neurodevelopmental disorders OGT 99.90 0 Neurodevelopmental disorders OPHN1 99.94 0 Neurodevelopmental disorders SLC25A15 100.00 0 Neurodevelopmental disorders OTC 99.17 0 Neurodevelopmental disorders OXTR 92.68 0 Neurodevelopmental disorders PACS1 98.26 0 Neurodevelopmental disorders PAFAH1B1 100.00 0 Neurodevelopmental disorders PAH 100.00 0 Neurodevelopmental disorders PAK3 98.75 0 Neurodevelopmental disorders PANK2 100.00 0 Neurodevelopmental disorders PARD3B 100.00 0 Neurodevelopmental disorders PARP1 100.00 0 Neurodevelopmental disorders PAX1 96.00 0 Neurodevelopmental disorders PAX5 100.00 0 Neurodevelopmental disorders PAX6 100.00 0 Neurodevelopmental disorders PAX8 99.96 0 Neurodevelopmental disorders PBRM1 100.00 0 Neurodevelopmental disorders PODXL 100.00 0 Neurodevelopmental disorders PCDH10 99.96 0 Neurodevelopmental disorders PCDH19 98.99 0 Neurodevelopmental disorders PCGF2 100.00 0 Neurodevelopmental disorders PCLO 100.00 0 Neurodevelopmental disorders PCNT 99.88 0 Neurodevelopmental disorders PDE1C 99.99 0 Neurodevelopmental disorders PDE4D 99.96 0 Neurodevelopmental disorders PDE8B 98.72 0 Neurodevelopmental disorders PDHA1 92.64 0 Neurodevelopmental disorders PDHX 100.00 0 Neurodevelopmental disorders PDSS1 85.11 0 Neurodevelopmental disorders PDSS2 100.00 0 Neurodevelopmental disorders PEPD 97.88 0 Neurodevelopmental disorders PER2 100.00 0 Neurodevelopmental disorders PEX1 100.00 0 Neurodevelopmental disorders PEX10 87.10 0 Neurodevelopmental disorders PEX11B 100.00 0 Neurodevelopmental disorders PEX12 100.00 0 Neurodevelopmental disorders PEX13 100.00 0 Neurodevelopmental disorders PEX16 99.97 0 Neurodevelopmental disorders PEX19 100.00 0 Neurodevelopmental disorders PEX2 100.00 0 Neurodevelopmental disorders PEX26 100.00 0 Neurodevelopmental disorders PEX3 100.00 0 Neurodevelopmental disorders PEX5 100.00 0 Neurodevelopmental disorders PEX6 99.74 0 Neurodevelopmental disorders PEX7 95.60 0 Neurodevelopmental disorders PGA5 100.00 0 Neurodevelopmental disorders PGAP1 100.00 0 Neurodevelopmental disorders PGAP2 100.00 0 Neurodevelopmental disorders PGAP3 98.48 0 Neurodevelopmental disorders PGK1 99.88 0 Neurodevelopmental disorders PHF2 99.95 0 Neurodevelopmental disorders PHF21A 100.00 0 Neurodevelopmental disorders PHF6 100.00 0 Neurodevelopmental disorders PHF8 100.00 0 Neurodevelopmental disorders PHGDH 100.00 0 Neurodevelopmental disorders PHIP 99.68 0 Neurodevelopmental disorders PHKA2 99.88 0 Neurodevelopmental disorders PHKG2 100.00 0 Neurodevelopmental disorders PIAS1 99.99 0 Neurodevelopmental disorders PIGG 100.00 0 Neurodevelopmental disorders PIGL 100.00 0 Neurodevelopmental disorders PIGN 100.00 0 Neurodevelopmental disorders PIGO 100.00 0 Neurodevelopmental disorders PIGS 99.99 0 Neurodevelopmental disorders PIGT 100.00 0 Neurodevelopmental disorders PIGV 100.00 0 Neurodevelopmental disorders PIGW 100.00 0 Neurodevelopmental disorders PIGY 100.00 0 Neurodevelopmental disorders PIK3R2 88.52 0 Neurodevelopmental disorders PLA2G6 100.00 0 Neurodevelopmental disorders PLCB1 100.00 0 Neurodevelopmental disorders PLP1 100.00 0 Neurodevelopmental disorders PLXNB1 100.00 0 Neurodevelopmental disorders PMM2 100.00 0 Neurodevelopmental disorders PNKP 99.84 0 Neurodevelopmental disorders PNP 100.00 0 Neurodevelopmental disorders POC1A 99.00 0 Neurodevelopmental disorders POGZ 100.00 0 Neurodevelopmental disorders POLG 100.00 0 Neurodevelopmental disorders POLR2M 100.00 0 Neurodevelopmental disorders POLR3A 100.00 0 Neurodevelopmental disorders POLR3B 100.00 0 Neurodevelopmental disorders POMC 100.00 0 Neurodevelopmental disorders POMGNT1 100.00 0 Neurodevelopmental disorders POMGNT2 100.00 0 Neurodevelopmental disorders POMT1 100.00 0 Neurodevelopmental disorders POMT2 99.53 0 Neurodevelopmental disorders PORCN 98.59 0 Neurodevelopmental disorders POT1 99.99 0 Neurodevelopmental disorders POU1F1 100.00 0 Neurodevelopmental disorders POU3F3 71.08 0 Neurodevelopmental disorders POU3F4 100.00 0 Neurodevelopmental disorders PPM1D 100.00 0 Neurodevelopmental disorders HCRT 100.00 0 Neurodevelopmental disorders PPP1CB 100.00 0 Neurodevelopmental disorders PPP1R1B 100.00 0 Neurodevelopmental disorders PPP2R1A 100.00 0 Neurodevelopmental disorders PPP2R5D 100.00 0 Neurodevelopmental disorders PPT1 100.00 0 Neurodevelopmental disorders PQBP1 99.91 0 Neurodevelopmental disorders PRICKLE1 100.00 0 Neurodevelopmental disorders PRKAR1A 100.00 0 Neurodevelopmental disorders PRKRA 99.64 0 Neurodevelopmental disorders PRMT7 100.00 0 Neurodevelopmental disorders PRODH 88.26 0 Neurodevelopmental disorders PRPS1 99.91 0 Neurodevelopmental disorders PRR12 99.99 0 Neurodevelopmental disorders PRRT2 100.00 0 Neurodevelopmental disorders PRSS12 100.00 0 Neurodevelopmental disorders PSAP 100.00 0 Neurodevelopmental disorders PSEN1 100.00 0 Neurodevelopmental disorders PTCH1 98.82 0 Neurodevelopmental disorders PTCHD1 99.78 0 Neurodevelopmental disorders PTDSS1 100.00 0 Neurodevelopmental disorders PTEN 99.45 0 Neurodevelopmental disorders PTHLH 100.00 0 Neurodevelopmental disorders PTK7 100.00 0 Neurodevelopmental disorders PTPN11 94.43 0 Neurodevelopmental disorders PUF60 99.31 0 Neurodevelopmental disorders PUM1 100.00 0 Neurodevelopmental disorders PURA 95.47 0 Neurodevelopmental disorders PUS1 100.00 0 Neurodevelopmental disorders PUS3 100.00 0 Neurodevelopmental disorders PUS7 100.00 0 Neurodevelopmental disorders NECTIN1 99.19 0 Neurodevelopmental disorders PYCR1 100.00 0 Neurodevelopmental disorders PYCR2 100.00 0 Neurodevelopmental disorders PYGL 100.00 0 Neurodevelopmental disorders QRICH1 100.00 0 Neurodevelopmental disorders RAB18 99.99 0 Neurodevelopmental disorders RAB27A 100.00 0 Neurodevelopmental disorders RAB39B 100.00 0 Neurodevelopmental disorders RAB3GAP1 100.00 0 Neurodevelopmental disorders RAB3GAP2 100.00 0 Neurodevelopmental disorders RAB40AL 99.91 0 Neurodevelopmental disorders RABL6 99.42 0 Neurodevelopmental disorders NCOA3 88.47 0 Neurodevelopmental disorders RAD21 100.00 0 Neurodevelopmental disorders RAF1 100.00 0 Neurodevelopmental disorders RAI1 93.59 0 Neurodevelopmental disorders RALGAPB 100.00 0 Neurodevelopmental disorders RALGDS 92.25 0 Neurodevelopmental disorders RANBP17 98.10 0 Neurodevelopmental disorders RAPSN 100.00 0 Neurodevelopmental disorders RARS2 100.00 0 Neurodevelopmental disorders RASGEF1B 100.00 0 Neurodevelopmental disorders RBBP8 99.97 0 Neurodevelopmental disorders RBFOX1 98.87 0 Neurodevelopmental disorders RBL2 98.63 0 Neurodevelopmental disorders RBM10 99.23 0 Neurodevelopmental disorders RBM28 98.67 0 Neurodevelopmental disorders RELN 100.00 0 Neurodevelopmental disorders RERE 99.81 0 Neurodevelopmental disorders REV3L 99.86 0 Neurodevelopmental disorders RFT1 99.87 0 Neurodevelopmental disorders RFX3 100.00 0 Neurodevelopmental disorders RFX6 100.00 0 Neurodevelopmental disorders RIC8A 99.98 0 Neurodevelopmental disorders RIMS1 100.00 0 Neurodevelopmental disorders RIT1 100.00 0 Neurodevelopmental disorders RMND1 99.49 0 Neurodevelopmental disorders RMRP 100.00 0 Neurodevelopmental disorders RNASEH2A 100.00 0 Neurodevelopmental disorders RNASEH2B 94.58 0 Neurodevelopmental disorders RNASEH2C 100.00 0 Neurodevelopmental disorders RNASET2 100.00 0 Neurodevelopmental disorders RNF125 99.99 0 Neurodevelopmental disorders RNF213 100.00 0 Neurodevelopmental disorders ROGDI 91.40 0 Neurodevelopmental disorders RP2 99.78 0 Neurodevelopmental disorders RPGRIP1L 96.40 0 Neurodevelopmental disorders RPL15 99.14 0 Neurodevelopmental disorders RPS6KA2 100.00 0 Neurodevelopmental disorders RPS6KA3 96.78 0 Neurodevelopmental disorders RRAS 97.75 0 Neurodevelopmental disorders RTEL1 100.00 0 Neurodevelopmental disorders RTN2 99.44 0 Neurodevelopmental disorders RTN4IP1 100.00 0 Neurodevelopmental disorders RUNX1 99.48 0 Neurodevelopmental disorders RUVBL1 100.00 0 Neurodevelopmental disorders RYR1 99.39 0 Neurodevelopmental disorders RYR2 100.00 0 Neurodevelopmental disorders S100G 98.92 0 Neurodevelopmental disorders SACS 99.95 0 Neurodevelopmental disorders SALL1 100.00 0 Neurodevelopmental disorders SAMHD1 100.00 0 Neurodevelopmental disorders SARDH 99.83 0 Neurodevelopmental disorders SARS2 100.00 0 Neurodevelopmental disorders SATB2 99.34 0 Neurodevelopmental disorders SBF1 98.38 0 Neurodevelopmental disorders SC5D 100.00 0 Neurodevelopmental disorders SCAPER 99.94 0 Neurodevelopmental disorders SCN1A 100.00 0 Neurodevelopmental disorders SCN2A 100.00 0 Neurodevelopmental disorders SCN7A 100.00 0 Neurodevelopmental disorders SCN8A 100.00 0 Neurodevelopmental disorders SCN9A 99.99 0 Neurodevelopmental disorders SCO2 93.85 0 Neurodevelopmental disorders SDCCAG8 100.00 0 Neurodevelopmental disorders SDHA 95.31 0 Neurodevelopmental disorders SDK1 96.50 0 Neurodevelopmental disorders SERAC1 100.00 0 Neurodevelopmental disorders SETBP1 100.00 0 Neurodevelopmental disorders SETD1A 100.00 0 Neurodevelopmental disorders SETD1B 99.89 0 Neurodevelopmental disorders SETD2 100.00 0 Neurodevelopmental disorders SETD5 100.00 0 Neurodevelopmental disorders NR5A1 87.73 0 Neurodevelopmental disorders SFPQ 99.89 0 Neurodevelopmental disorders SGCA 100.00 0 Neurodevelopmental disorders SGSH 99.85 0 Neurodevelopmental disorders SHANK1 99.69 0 Neurodevelopmental disorders SHANK2 100.00 0 Neurodevelopmental disorders SHANK3 90.31 0 Neurodevelopmental disorders SHC1 100.00 0 Neurodevelopmental disorders SHH 99.47 0 Neurodevelopmental disorders SHOC2 100.00 0 Neurodevelopmental disorders SHOX 98.69 0 Neurodevelopmental disorders SHROOM4 99.98 0 Neurodevelopmental disorders SIL1 99.95 0 Neurodevelopmental disorders SIN3A 97.83 0 Neurodevelopmental disorders SIX3 99.61 0 Neurodevelopmental disorders HHAT 92.45 0 Neurodevelopmental disorders SLC12A6 100.00 0 Neurodevelopmental disorders SLC16A2 99.97 0 Neurodevelopmental disorders SLC17A5 100.00 0 Neurodevelopmental disorders SLC1A1 100.00 0 Neurodevelopmental disorders SLC1A4 99.98 0 Neurodevelopmental disorders SLC20A2 100.00 0 Neurodevelopmental disorders SLC24A2 99.82 0 Neurodevelopmental disorders SLC25A1 98.83 0 Neurodevelopmental disorders SLC25A12 100.00 0 Neurodevelopmental disorders SLC25A13 100.00 0 Neurodevelopmental disorders SLC25A22 100.00 0 Neurodevelopmental disorders SLC25A24 99.90 0 Neurodevelopmental disorders SLC26A9 100.00 0 Neurodevelopmental disorders SLC2A1 100.00 0 Neurodevelopmental disorders SLC2A2 99.95 0 Neurodevelopmental disorders SLC33A1 100.00 0 Neurodevelopmental disorders SLC35A2 100.00 0 Neurodevelopmental disorders SLC35C1 100.00 0 Neurodevelopmental disorders SLC39A8 98.92 0 Neurodevelopmental disorders SLC46A1 99.98 0 Neurodevelopmental disorders SLC4A4 100.00 0 Neurodevelopmental disorders SLC5A2 99.99 0 Neurodevelopmental disorders SLC5A5 99.97 0 Neurodevelopmental disorders SLC6A1 100.00 0 Neurodevelopmental disorders SLC6A17 100.00 0 Neurodevelopmental disorders SLC6A3 100.00 0 Neurodevelopmental disorders SLC6A4 100.00 0 Neurodevelopmental disorders SLC6A8 99.41 0 Neurodevelopmental disorders SLC7A7 100.00 0 Neurodevelopmental disorders SLC9A6 99.66 0 Neurodevelopmental disorders SLC9A7 95.89 0 Neurodevelopmental disorders SLC9A9 100.00 0 Neurodevelopmental disorders SLCO1B1 99.89 0 Neurodevelopmental disorders SLCO1B3 99.94 0 Neurodevelopmental disorders SLX4 100.00 0 Neurodevelopmental disorders SMAD2 100.00 0 Neurodevelopmental disorders SMAD4 98.47 0 Neurodevelopmental disorders SMARCA2 98.99 0 Neurodevelopmental disorders SMARCA4 100.00 0 Neurodevelopmental disorders SMARCB1 100.00 0 Neurodevelopmental disorders SMARCC2 100.00 0 Neurodevelopmental disorders SMARCE1 98.46 0 Neurodevelopmental disorders SMC1A 99.87 0 Neurodevelopmental disorders SMC3 100.00 0 Neurodevelopmental disorders SMG6 96.90 0 Neurodevelopmental disorders SMOC1 98.05 0 Neurodevelopmental disorders SMPD1 100.00 0 Neurodevelopmental disorders SNAP29 100.00 0 Neurodevelopmental disorders SNIP1 100.00 0 Neurodevelopmental disorders SNRPA 100.00 0 Neurodevelopmental disorders SNX14 99.98 0 Neurodevelopmental disorders SNX19 99.99 0 Neurodevelopmental disorders SOBP 95.50 0 Neurodevelopmental disorders SON 100.00 0 Neurodevelopmental disorders SOS1 100.00 0 Neurodevelopmental disorders SOS2 99.96 0 Neurodevelopmental disorders SOX10 95.36 0 Neurodevelopmental disorders SOX11 100.00 0 Neurodevelopmental disorders SOX2 95.35 0 Neurodevelopmental disorders SOX3 97.06 0 Neurodevelopmental disorders SOX5 100.00 0 Neurodevelopmental disorders SPAST 99.83 0 Neurodevelopmental disorders AFG2A 99.97 0 Neurodevelopmental disorders SPG11 100.00 0 Neurodevelopmental disorders SPG7 95.78 0 Neurodevelopmental disorders SPR 99.98 0 Neurodevelopmental disorders SPRED1 100.00 0 Neurodevelopmental disorders SPTAN1 100.00 0 Neurodevelopmental disorders SPTLC1 99.27 0 Neurodevelopmental disorders SRCAP 100.00 0 Neurodevelopmental disorders SRD5A3 98.61 0 Neurodevelopmental disorders SREBF2 99.91 0 Neurodevelopmental disorders SRGAP3 100.00 0 Neurodevelopmental disorders SRPX2 99.04 0 Neurodevelopmental disorders ST3GAL3 100.00 0 Neurodevelopmental disorders ST3GAL5 90.70 0 Neurodevelopmental disorders STAG1 100.00 0 Neurodevelopmental disorders STAT5B 100.00 0 Neurodevelopmental disorders STIL 100.00 0 Neurodevelopmental disorders STRA6 100.00 0 Neurodevelopmental disorders STS 99.91 0 Neurodevelopmental disorders STT3A 100.00 0 Neurodevelopmental disorders STT3B 100.00 0 Neurodevelopmental disorders STX11 100.00 0 Neurodevelopmental disorders STXBP1 100.00 0 Neurodevelopmental disorders STXBP5 100.00 0 Neurodevelopmental disorders SUCLA2 99.86 0 Neurodevelopmental disorders SUCLG1 93.27 0 Neurodevelopmental disorders SUOX 100.00 0 Neurodevelopmental disorders SUPT16H 100.00 0 Neurodevelopmental disorders SURF1 82.91 0 Neurodevelopmental disorders KMT5B 100.00 0 Neurodevelopmental disorders SYN1 96.00 0 Neurodevelopmental disorders SYNE1 100.00 0 Neurodevelopmental disorders SYNGAP1 99.76 0 Neurodevelopmental disorders SYNM 92.93 0 Neurodevelopmental disorders SYNPO 100.00 0 Neurodevelopmental disorders SYP 97.84 0 Neurodevelopmental disorders SYT14 92.28 0 Neurodevelopmental disorders SYT3 99.96 0 Neurodevelopmental disorders TAF1 99.98 0 Neurodevelopmental disorders TAF13 100.00 0 Neurodevelopmental disorders TAF2 100.00 0 Neurodevelopmental disorders TAT 100.00 0 Neurodevelopmental disorders TBC1D24 99.99 0 Neurodevelopmental disorders TBC1D7 100.00 0 Neurodevelopmental disorders TBCE 100.00 0 Neurodevelopmental disorders TBCK 100.00 0 Neurodevelopmental disorders TBR1 99.60 0 Neurodevelopmental disorders TBX1 83.55 0 Neurodevelopmental disorders TCF20 100.00 0 Neurodevelopmental disorders TCF3 99.97 0 Neurodevelopmental disorders TCF4 100.00 0 Neurodevelopmental disorders TCF7L2 100.00 0 Neurodevelopmental disorders TDG 100.00 0 Neurodevelopmental disorders TECR 100.00 0 Neurodevelopmental disorders TELO2 98.19 0 Neurodevelopmental disorders TENM1 99.91 0 Neurodevelopmental disorders TET3 100.00 0 Neurodevelopmental disorders TFAP2A 99.96 0 Neurodevelopmental disorders TGFBR1 91.80 0 Neurodevelopmental disorders TGFBR2 100.00 0 Neurodevelopmental disorders TGIF1 100.00 0 Neurodevelopmental disorders TGM1 100.00 0 Neurodevelopmental disorders TH 98.79 0 Neurodevelopmental disorders THOC2 99.62 0 Neurodevelopmental disorders THOC6 100.00 0 Neurodevelopmental disorders THRA 100.00 0 Neurodevelopmental disorders THRB 100.00 0 Neurodevelopmental disorders THSD1 100.00 0 Neurodevelopmental disorders TIMM8A 99.00 0 Neurodevelopmental disorders TINF2 99.94 0 Neurodevelopmental disorders TMCO1 100.00 0 Neurodevelopmental disorders TMEM107 100.00 0 Neurodevelopmental disorders TMEM135 100.00 0 Neurodevelopmental disorders TMEM165 91.64 0 Neurodevelopmental disorders TMEM216 99.87 0 Neurodevelopmental disorders TMEM231 100.00 0 Neurodevelopmental disorders TMEM237 99.85 0 Neurodevelopmental disorders TMEM67 99.95 0 Neurodevelopmental disorders TMEM70 100.00 0 Neurodevelopmental disorders TMLHE 99.11 0 Neurodevelopmental disorders TNIK 100.00 0 Neurodevelopmental disorders TNK2 99.86 0 Neurodevelopmental disorders TNRC6B 99.93 0 Neurodevelopmental disorders TOPORS 100.00 0 Neurodevelopmental disorders TOR1A 99.70 0 Neurodevelopmental disorders TDO2 100.00 0 Neurodevelopmental disorders TPK1 99.99 0 Neurodevelopmental disorders THPO 99.80 0 Neurodevelopmental disorders ACD 99.99 0 Neurodevelopmental disorders TPTE 99.28 0 Neurodevelopmental disorders TRAF7 99.04 0 Neurodevelopmental disorders TRAPPC11 99.97 0 Neurodevelopmental disorders TRAPPC12 99.96 0 Neurodevelopmental disorders TRAPPC9 99.15 0 Neurodevelopmental disorders TREX1 100.00 0 Neurodevelopmental disorders TRHR 100.00 0 Neurodevelopmental disorders TRIM10 100.00 0 Neurodevelopmental disorders TRIM3 100.00 0 Neurodevelopmental disorders TRIM32 100.00 0 Neurodevelopmental disorders TRIO 98.86 0 Neurodevelopmental disorders TRIP12 100.00 0 Neurodevelopmental disorders TRMT10A 100.00 0 Neurodevelopmental disorders TRPM3 100.00 0 Neurodevelopmental disorders TRPM6 100.00 0 Neurodevelopmental disorders TRPV4 100.00 0 Neurodevelopmental disorders TRPV6 100.00 0 Neurodevelopmental disorders TSC1 100.00 0 Neurodevelopmental disorders TSC2 99.94 0 Neurodevelopmental disorders TSEN54 91.60 0 Neurodevelopmental disorders TSHR 100.00 0 Neurodevelopmental disorders TSPAN7 99.05 0 Neurodevelopmental disorders SKIC3 99.99 0 Neurodevelopmental disorders TTC8 99.73 0 Neurodevelopmental disorders TTC9 91.41 0 Neurodevelopmental disorders TTI2 100.00 0 Neurodevelopmental disorders TTN 100.00 0 Neurodevelopmental disorders TTR 100.00 0 Neurodevelopmental disorders TUBA1A 100.00 0 Neurodevelopmental disorders TUBA8 99.98 0 Neurodevelopmental disorders TUBB 100.00 0 Neurodevelopmental disorders TUBB2B 100.00 0 Neurodevelopmental disorders TUBB3 99.01 0 Neurodevelopmental disorders TUBGCP4 99.17 0 Neurodevelopmental disorders TUBGCP6 100.00 0 Neurodevelopmental disorders TUSC3 100.00 0 Neurodevelopmental disorders TWIST1 97.62 0 Neurodevelopmental disorders UBE2A 100.00 0 Neurodevelopmental disorders UBE3A 100.00 0 Neurodevelopmental disorders UBE3B 100.00 0 Neurodevelopmental disorders UBR1 100.00 0 Neurodevelopmental disorders UBTF 100.00 0 Neurodevelopmental disorders UNC50 100.00 0 Neurodevelopmental disorders UNC80 99.98 0 Neurodevelopmental disorders UPB1 100.00 0 Neurodevelopmental disorders UPF3B 99.86 0 Neurodevelopmental disorders UROC1 99.97 0 Neurodevelopmental disorders USP9X 100.00 0 Neurodevelopmental disorders UTP6 100.00 0 Neurodevelopmental disorders VCP 97.10 0 Neurodevelopmental disorders VLDLR 96.00 0 Neurodevelopmental disorders VPS13B 100.00 0 Neurodevelopmental disorders VPS39 99.94 0 Neurodevelopmental disorders VPS4A 100.00 0 Neurodevelopmental disorders VRK1 100.00 0 Neurodevelopmental disorders WAC 100.00 0 Neurodevelopmental disorders WDFY3 100.00 0 Neurodevelopmental disorders WDR11 100.00 0 Neurodevelopmental disorders WDR13 99.05 0 Neurodevelopmental disorders WDR19 100.00 0 Neurodevelopmental disorders WDR26 99.54 0 Neurodevelopmental disorders WDR4 100.00 0 Neurodevelopmental disorders WDR45 100.00 0 Neurodevelopmental disorders WDR45B 99.94 0 Neurodevelopmental disorders WDR62 100.00 0 Neurodevelopmental disorders WDR73 100.00 0 Neurodevelopmental disorders WDR81 99.63 0 Neurodevelopmental disorders NSD2 100.00 0 Neurodevelopmental disorders WNT2 100.00 0 Neurodevelopmental disorders WRN 100.00 0 Neurodevelopmental disorders WWOX 100.00 0 Neurodevelopmental disorders XPA 98.10 0 Neurodevelopmental disorders XPNPEP3 100.00 0 Neurodevelopmental disorders XPO5 100.00 0 Neurodevelopmental disorders XYLT1 89.98 0 Neurodevelopmental disorders YAP1 99.86 0 Neurodevelopmental disorders YEATS2 100.00 0 Neurodevelopmental disorders YTHDC1 99.99 0 Neurodevelopmental disorders YWHAE 91.19 0 Neurodevelopmental disorders YY1 99.76 0 Neurodevelopmental disorders ZBTB11 100.00 0 Neurodevelopmental disorders ZBTB16 100.00 0 Neurodevelopmental disorders ZBTB18 99.54 0 Neurodevelopmental disorders ZBTB20 100.00 0 Neurodevelopmental disorders ZBTB24 100.00 0 Neurodevelopmental disorders ZC3H14 99.55 0 Neurodevelopmental disorders ZC3H4 99.95 0 Neurodevelopmental disorders ZCCHC12 100.00 0 Neurodevelopmental disorders ZDHHC15 98.46 0 Neurodevelopmental disorders ZDHHC9 100.00 0 Neurodevelopmental disorders ZEB2 99.96 0 Neurodevelopmental disorders ZFHX4 100.00 0 Neurodevelopmental disorders ZFP57 100.00 0 Neurodevelopmental disorders ZFYVE26 100.00 0 Neurodevelopmental disorders ZIC2 95.66 0 Neurodevelopmental disorders ZMYM3 99.98 0 Neurodevelopmental disorders ZMYND11 100.00 0 Neurodevelopmental disorders ZPR1 100.00 0 Neurodevelopmental disorders ZNF292 100.00 0 Neurodevelopmental disorders ZNF407 100.00 0 Neurodevelopmental disorders ZNF41 100.00 0 Neurodevelopmental disorders ZNF526 100.00 0 Neurodevelopmental disorders ZNF559 100.00 0 Neurodevelopmental disorders ZNF592 100.00 0 Neurodevelopmental disorders ZNF594 100.00 0 Neurodevelopmental disorders ZNF599 99.76 0 Neurodevelopmental disorders ZNF674 100.00 0 Neurodevelopmental disorders ZNF697 99.70 0 Neurodevelopmental disorders ZNF711 99.98 0 Neurodevelopmental disorders ZNF774 100.00 0 Neurodevelopmental disorders ZNF8 100.00 0 Neurodevelopmental disorders ZNF81 99.55 0 Neurodevelopmental disorders ZNF827 100.00 0 Neurodevelopmental disorders ZNRF3 94.23 0 Neurodevelopmental disorders ZWILCH 100.00 0 Neurodevelopmental disorders -
Neurodevelopmental disorders: developmental delay, intellectual disability, autistic disorders (1162 genes) - VUB
Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments A2ML1 100.00 0 No comment ABCC6 100.00 0 No comment ABCC9 100.00 0 No comment ABCD1 99.93 0 No comment ABCD4 100.00 0 No comment ABCG5 100.00 0 No comment ABHD5 99.98 0 No comment ABI2 100.00 0 No comment ACAD9 100.00 0 No comment ACAT1 97.28 0 No comment ACO2 100.00 0 No comment ACOX1 100.00 0 No comment ACSF3 100.00 0 No comment ACSL4 100.00 0 No comment ACTB 100.00 0 No comment ACTG1 100.00 0 No comment ACVR1 100.00 0 No comment ACY1 100.00 0 No comment ADAR 100.00 0 No comment ADAT3 97.38 0 No comment ADCY5 94.52 0 No comment ADGRG1 100.00 0 No comment ADK 100.00 0 No comment ADNP 100.00 0 No comment ADRA2B 100.00 0 No comment ADSL 100.00 0 No comment AFF2 100.00 0 No comment AFF3 99.89 0 No comment AFP 100.00 0 No comment AGA 100.00 0 No comment AGBL4 100.00 0 No comment AGL 99.98 0 No comment AGPAT2 96.18 0 No comment AGXT 100.00 0 No comment AGTR2 100.00 0 No comment AHCY 100.00 0 No comment AHDC1 100.00 0 No comment AHI1 100.00 0 No comment AIFM1 100.00 0 No comment AIMP1 100.00 0 No comment AK1 100.00 0 No comment AKT1 100.00 0 No comment AKT1S1 99.49 0 No comment AKT3 100.00 0 No comment ALDH18A1 100.00 0 No comment ALDH3A2 99.95 0 No comment ALDH4A1 97.15 0 No comment ALDH5A1 83.59 0 No comment ALG1 92.65 0 No comment ALG11 100.00 0 No comment ALG12 100.00 0 No comment ALG13 99.96 0 No comment ALG2 99.94 0 No comment ALG3 99.22 0 No comment ALG6 100.00 0 No comment ALG9 98.65 0 No comment ALX1 100.00 0 No comment ALX4 99.70 0 No comment AMER1 100.00 0 No comment AMPD2 100.00 0 No comment AMT 99.94 0 No comment ANK2 100.00 0 No comment ANK3 100.00 0 No comment ANKH 100.00 0 No comment ANKRD11 100.00 0 No comment ANO10 100.00 0 No comment ANO3 100.00 0 No comment ANO5 100.00 0 No comment ANTXR1 100.00 0 No comment AP1S1 100.00 0 No comment AP1S2 100.00 0 No comment AP3B1 100.00 0 No comment AP4B1 100.00 0 No comment AP4E1 100.00 0 No comment AP4M1 100.00 0 No comment AP4S1 87.40 0 No comment APAF1 100.00 0 No comment APC 100.00 0 No comment APTX 100.00 0 No comment AQP7 100.00 0 No comment AR 99.29 0 No comment ARFGEF2 100.00 0 No comment ARG1 100.00 0 No comment ARHGEF4 100.00 0 No comment ARHGEF6 100.00 0 No comment ARHGEF7 99.95 0 No comment ARHGEF9 100.00 0 No comment ARID1A 94.64 0 No comment ARID1B 92.99 0 No comment ARID2 100.00 0 No comment ARL13B 100.00 0 No comment ARL6 100.00 0 No comment ARSL 100.00 0 No comment ARX 78.98 0 No comment ASH1L 100.00 0 No comment ASL 100.00 0 No comment ASNS 100.00 0 No comment ASPA 100.00 0 No comment ASPM 100.00 0 No comment ASS1 99.87 0 No comment ASTN2 91.86 0 No comment ASXL1 99.91 0 No comment ASXL3 100.00 0 No comment ATIC 99.06 0 No comment ATL1 100.00 0 No comment ATM 100.00 0 No comment ATP13A2 99.17 0 No comment ATP1A2 100.00 0 No comment ATP2A2 100.00 0 No comment ATP6AP2 99.95 0 No comment ATP6V0A2 100.00 0 No comment ATP7A 100.00 0 No comment ATP8A2 99.93 0 No comment ATRX 100.00 0 No comment ATXN1 100.00 0 No comment AUH 96.44 0 No comment AUTS2 98.20 0 No comment NLRP3 100.00 0 No comment AVPR2 100.00 0 No comment AXIN1 100.00 0 No comment B3GLCT 94.89 0 No comment B4GALT1 100.00 0 No comment B4GALT7 93.23 0 No comment BBS1 100.00 0 No comment BBS10 100.00 0 No comment BBS12 100.00 0 No comment BBS2 100.00 0 No comment BBS4 100.00 0 No comment BBS5 100.00 0 No comment BBS7 100.00 0 No comment BBS9 100.00 0 No comment BCKDHA 100.00 0 No comment BCKDHB 100.00 0 No comment BCL11A 100.00 0 No comment BCOR 100.00 0 No comment BCS1L 100.00 0 No comment BIN1 100.00 0 No comment BIRC6 100.00 0 No comment BLM 100.00 0 No comment BRAF 96.97 0 No comment BRCA2 100.00 0 No comment BRIP1 100.00 0 No comment BRWD3 100.00 0 No comment BSCL2 100.00 0 No comment BTD 100.00 0 No comment BUB1B 100.00 0 No comment C12ORF57 100.00 0 No comment MTRFR 100.00 0 No comment CA2 100.00 0 No comment CA8 100.00 0 No comment CACNA1A 98.78 0 No comment CACNA1B 96.03 0 No comment CACNA1C 100.00 0 No comment CACNA1D 100.00 0 No comment CACNA1F 99.89 0 No comment CACNA1G 100.00 0 No comment CACNA1H 97.35 0 No comment CACNA2D3 98.60 0 No comment CACNB2 100.00 0 No comment CACNG2 100.00 0 No comment CALM1 100.00 0 No comment CAMK2B 99.93 0 No comment CAMTA1 99.39 0 No comment CANT1 100.00 0 No comment CASK 100.00 0 No comment CBL 100.00 0 No comment CBS 100.00 0 No comment CC2D1A 100.00 0 No comment CC2D2A 98.16 0 No comment CCAR2 100.00 0 No comment CCBE1 99.97 0 No comment CCDC22 99.93 0 No comment CCDC39 100.00 0 No comment CCDC78 100.00 0 No comment CCDC88C 99.92 0 No comment CCNT1 100.00 0 No comment CCSER1 100.00 0 No comment CD163L1 100.00 0 No comment CDH15 97.06 0 No comment CDK5RAP2 100.00 0 No comment CDK6 100.00 0 No comment CDKL5 100.00 0 No comment CDKN1C 62.25 0 No comment CDON 100.00 0 No comment CELSR1 93.72 0 No comment CENPE 100.00 0 No comment CENPJ 100.00 0 No comment CEP135 100.00 0 No comment CEP152 100.00 0 No comment CEP290 99.99 0 No comment CEP41 100.00 0 No comment CEP55 100.00 0 No comment CEP57 100.00 0 No comment CFAP53 100.00 0 No comment CHAMP1 100.00 0 No comment CHAT 100.00 0 No comment CHD1 100.00 0 No comment CHD2 100.00 0 No comment CHD3 97.58 0 No comment CHD7 100.00 0 No comment CHD8 100.00 0 No comment CHKB 99.69 0 No comment CHRNA2 100.00 0 No comment CHRNA4 97.18 0 No comment CHRND 100.00 0 No comment CIC 99.99 0 No comment CLCN4 100.00 0 No comment CLCN7 94.99 0 No comment CLCNKB 100.00 0 No comment CLIC2 100.00 0 No comment CLIP1 100.00 0 No comment CLN3 100.00 0 No comment CLN5 99.94 0 No comment CLN6 90.35 0 No comment CLN8 100.00 0 No comment CLTC 100.00 0 No comment CMIP 99.97 0 No comment CNKSR2 100.00 0 No comment CNOT1 100.00 0 No comment CNOT3 100.00 0 No comment CNOT4 100.00 0 No comment CNOT6 100.00 0 No comment CNTN3 100.00 0 No comment CNTN4 100.00 0 No comment CNTNAP2 99.85 0 No comment COG1 99.24 0 No comment COG5 100.00 0 No comment COG6 100.00 0 No comment COG7 100.00 0 No comment COG8 100.00 0 No comment COL11A1 100.00 0 No comment COL1A2 99.93 0 No comment COL4A1 98.71 0 No comment COL4A2 100.00 0 No comment CERT1 100.00 0 No comment COLEC11 100.00 0 No comment COQ2 97.15 0 No comment COQ8A 100.00 0 No comment COX10 100.00 0 No comment COX15 100.00 0 No comment CP 100.00 0 No comment CYP2A6 100.00 0 No comment CPLANE1 100.00 0 No comment CYP21A2 100.00 0 No comment CRADD 100.00 0 No comment CRBN 100.00 0 No comment CREB1 100.00 0 No comment CREBBP 100.00 0 No comment CRPPA 95.75 0 No comment CSTF2T 100.00 0 No comment CTC1 100.00 0 No comment CTCF 100.00 0 No comment CTDP1 89.61 0 No comment CTNNB1 100.00 0 No comment CTNND2 93.57 0 No comment CTSA 100.00 0 No comment CTSD 99.45 0 No comment CTTNBP2 99.32 0 No comment CUBN 100.00 0 No comment CUL3 100.00 0 No comment CUL4B 100.00 0 No comment CUL5 100.00 0 No comment CUX2 100.00 0 No comment CYB5R3 96.25 0 No comment CYFIP1 100.00 0 No comment CYP27A1 99.68 0 No comment D2HGDH 100.00 0 No comment DAB1 100.00 0 No comment DAG1 100.00 0 No comment DAGLA 100.00 0 No comment DARS2 100.00 0 No comment DBT 100.00 0 No comment DCAF17 96.47 0 No comment DCLK2 100.00 0 No comment DCX 100.00 0 No comment DDHD2 100.00 0 No comment DDX11 100.00 0 No comment DDX3X 100.00 0 No comment DEAF1 87.03 0 No comment DHCR24 99.96 0 No comment DHCR7 100.00 0 No comment DHDDS 100.00 0 No comment DHFR 99.48 0 No comment DHTKD1 99.98 0 No comment DHX9 100.00 0 No comment DIAPH1 99.15 0 No comment DIAPH3 100.00 0 No comment DIP2A 99.92 0 No comment DIP2B 99.88 0 No comment DIPK2A 99.79 0 No comment DISC1 86.36 0 No comment DKC1 100.00 0 No comment DLD 100.00 0 No comment DLG2 100.00 0 No comment DLG3 99.83 0 No comment DLG4 100.00 0 No comment DMD 100.00 0 No comment DMPK 99.97 0 No comment DNAH5 100.00 0 No comment DNAJC19 100.00 0 No comment DNM1 94.44 0 No comment DNMT1 100.00 0 No comment DNMT3A 100.00 0 No comment DNMT3B 100.00 0 No comment DOCK8 99.43 0 No comment DPAGT1 100.00 0 No comment DPM1 100.00 0 No comment DPP6 96.95 0 No comment DPYD 100.00 0 No comment DSCAM 100.00 0 No comment DST 100.00 0 No comment DUSP15 83.99 0 No comment DYM 100.00 0 No comment DYNC1H1 100.00 0 No comment DYRK1A 100.00 0 No comment GLB1 100.00 0 No comment ECM2 100.00 0 No comment EFCAB5 97.32 0 No comment EFNB1 100.00 0 No comment EFTUD2 100.00 0 No comment EHMT1 98.85 0 No comment EIF2AK3 95.52 0 No comment EIF2S3 100.00 0 No comment EIF3G 100.00 0 No comment EIF4A1 100.00 0 No comment EIF4G1 100.00 0 No comment ELK1 100.00 0 No comment ELOVL4 100.00 0 No comment ELP2 100.00 0 No comment EML1 97.08 0 No comment EMX2 100.00 0 No comment EN2 88.10 0 No comment EP300 100.00 0 No comment EP400 100.00 0 No comment EPB41L1 100.00 0 No comment EPHA5 99.98 0 No comment EPHB2 97.39 0 No comment ERBB4 100.00 0 No comment ERCC2 100.00 0 No comment ERCC3 100.00 0 No comment ERCC5 100.00 0 No comment ERCC6 100.00 0 No comment ERCC8 100.00 0 No comment ERLIN2 100.00 0 No comment ESCO2 100.00 0 No comment ETFB 100.00 0 No comment ETHE1 99.88 0 No comment EXOSC3 100.00 0 No comment EXT1 100.00 0 No comment EZH2 100.00 0 No comment EZR 100.00 0 No comment F5 100.00 0 No comment FAAH2 100.00 0 No comment HYCC1 100.00 0 No comment FANCB 100.00 0 No comment FANCD2 100.00 0 No comment FANCG 100.00 0 No comment FBLN5 100.00 0 No comment FBN1 100.00 0 No comment FBN2 100.00 0 No comment FBXO31 91.75 0 No comment FBXO33 90.47 0 No comment FEZF2 97.53 0 No comment FGD1 99.39 0 No comment FGF12 100.00 0 No comment FGF14 99.99 0 No comment FGFR1 100.00 0 No comment FGFR2 100.00 0 No comment FGFR3 99.26 0 No comment FH 100.00 0 No comment FIGN 100.00 0 No comment FKRP 98.68 0 No comment FKTN 100.00 0 No comment FLNA 100.00 0 No comment FLVCR1 100.00 0 No comment FMN2 99.94 0 No comment FMR1 100.00 0 No comment FOLR1 100.00 0 No comment FOXG1 85.88 0 No comment FOXP1 100.00 0 No comment FOXP2 100.00 0 No comment FOXP3 100.00 0 No comment FRAS1 100.00 0 No comment FRMPD4 100.00 0 No comment FTCD 98.36 0 No comment FTO 100.00 0 No comment FTSJ1 100.00 0 No comment FUCA1 100.00 0 No comment G6PC3 100.00 0 No comment GABRA1 100.00 0 No comment GABRA5 100.00 0 No comment GABRB2 100.00 0 No comment GABRB3 99.79 0 No comment GABRG2 92.03 0 No comment GABRG3 99.96 0 No comment GAD1 100.00 0 No comment GALE 100.00 0 No comment GALK1 99.95 0 No comment GALNT18 100.00 0 No comment GALT 100.00 0 No comment GAMT 98.60 0 No comment GAN 99.52 0 No comment GARS1 99.53 0 No comment GAS2 100.00 0 No comment GATAD2B 100.00 0 No comment GATM 99.26 0 No comment GBA1 100.00 0 No comment GBE1 100.00 0 No comment GCH1 96.30 0 No comment GCK 100.00 0 No comment GCOM1 94.20 0 No comment GCSH 76.04 0 No comment GDI1 100.00 0 No comment GFAP 100.00 0 No comment GFM1 100.00 0 No comment GHR 99.82 0 No comment GIGYF1 100.00 0 No comment GJB1 99.54 0 No comment GJB6 100.00 0 No comment GJC2 81.91 0 No comment GK 99.94 0 No comment GLDC 96.53 0 No comment GLI2 95.11 0 No comment GLI3 100.00 0 No comment GLO1 100.00 0 No comment GLRA1 100.00 0 No comment GLUL 100.00 0 No comment GLYCTK 100.00 0 No comment GM2A 100.00 0 No comment GMPPA 100.00 0 No comment GMPPB 100.00 0 No comment GNAO1 100.00 0 No comment GNAQ 100.00 0 No comment GNAS 98.96 0 No comment GNPAT 100.00 0 No comment GNPTAB 100.00 0 No comment GNPTG 94.69 0 No comment GNRHR 100.00 0 No comment GNS 100.00 0 No comment GORASP2 99.92 0 No comment GP1BB 25.16 0 No comment GPC3 100.00 0 No comment GPHN 100.00 0 No comment GPR37 100.00 0 No comment GPT2 96.29 0 No comment GRIA3 100.00 0 No comment GRID2 100.00 0 No comment GRIK2 100.00 0 No comment GRIN1 99.97 0 No comment GRIN2A 100.00 0 No comment GRIN2B 100.00 0 No comment GRIN3B 86.11 0 No comment GRM1 100.00 0 No comment GSE1 99.97 0 No comment GSPT2 100.00 0 No comment GSS 100.00 0 No comment GTF2H5 100.00 0 No comment GTF2IRD1 100.00 0 No comment GTF3C1 100.00 0 No comment GUSB 100.00 0 No comment GYS2 100.00 0 No comment HAL 100.00 0 No comment HAX1 100.00 0 No comment HCCS 100.00 0 No comment HCFC1 100.00 0 No comment HCN1 95.88 0 No comment HDAC4 100.00 0 No comment HDAC6 100.00 0 No comment HDAC8 100.00 0 No comment HDAC9 100.00 0 No comment HECTD1 100.00 0 No comment HECW2 100.00 0 No comment HEPACAM 96.82 0 No comment HERC1 100.00 0 No comment HERC2 99.62 0 No comment HESX1 100.00 0 No comment HEXA 100.00 0 No comment HEXB 99.82 0 No comment H4C2 100.00 0 No comment HIVEP2 100.00 0 No comment HLCS 100.00 0 No comment HMGA2 81.94 0 No comment HNRNPU 99.54 0 No comment HNRNPUL1 99.73 0 No comment HOXA1 100.00 0 No comment HOXB1 100.00 0 No comment HOXD10 100.00 0 No comment HPD 100.00 0 No comment HPRT1 94.60 0 No comment HRAS 100.00 0 No comment HSD17B10 100.00 0 No comment HSPA4 100.00 0 No comment HSPD1 99.53 0 No comment HTR2A 100.00 0 No comment HUWE1 100.00 0 No comment IDH2 92.01 0 No comment IDS 100.00 0 No comment IDUA 88.67 0 No comment IER3IP1 99.93 0 No comment IFT172 100.00 0 No comment IGBP1 100.00 0 No comment IGF1 100.00 0 No comment IGF1R 100.00 0 No comment IKBKG 99.74 0 No comment IL1RAPL1 100.00 0 No comment ILF2 100.00 0 No comment INPP5E 99.54 0 No comment INSR 97.31 0 No comment IQSEC2 99.73 0 No comment IRS1 100.00 0 No comment IRX5 94.92 0 No comment ITGA7 100.00 0 No comment ITGB3 97.94 0 No comment ITPR1 100.00 0 No comment JADE2 100.00 0 No comment JAG1 99.66 0 No comment JAM3 100.00 0 No comment JUP 100.00 0 No comment KANK1 100.00 0 No comment KANSL1 100.00 0 No comment KAT6A 100.00 0 No comment KAT6B 100.00 0 No comment KATNAL2 100.00 0 No comment KCNA1 100.00 0 No comment KCNH1 100.00 0 No comment KCNJ10 100.00 0 No comment KCNJ11 100.00 0 No comment KCNK9 100.00 0 No comment KCNMA1 99.94 0 No comment KCNQ2 99.98 0 No comment KCNQ3 96.44 0 No comment KCNQ4 92.42 0 No comment KCNT1 99.74 0 No comment KCTD7 97.35 0 No comment KDM5A 100.00 0 No comment KDM5B 100.00 0 No comment KDM5C 100.00 0 No comment KDM6A 100.00 0 No comment KDM6B 99.91 0 No comment BLTP1 100.00 0 No comment KIF11 100.00 0 No comment KIF1A 99.90 0 No comment KIFBP 100.00 0 No comment KIF21A 99.23 0 No comment KIF2A 98.88 0 No comment KIF4A 100.00 0 No comment KIF5A 100.00 0 No comment KIF5C 100.00 0 No comment KIF7 96.94 0 No comment KIRREL3 100.00 0 No comment KIT 100.00 0 No comment KLC2 100.00 0 No comment KLF8 100.00 0 No comment KMT2A 98.66 0 No comment KMT2C 100.00 0 No comment KMT2D 100.00 0 No comment KMT2E 100.00 0 No comment KMT5B 100.00 0 No comment KPTN 100.00 0 No comment KRAS 100.00 0 No comment KRBOX4 100.00 0 No comment KRT24 100.00 0 No comment L1CAM 100.00 0 No comment L2HGDH 99.96 0 No comment LAMA1 99.93 0 No comment LAMA2 100.00 0 No comment LAMB1 100.00 0 No comment LAMC3 97.51 0 No comment LAMP2 100.00 0 No comment LARGE1 100.00 0 No comment LARP7 100.00 0 No comment LAS1L 100.00 0 No comment LBR 100.00 0 No comment LCT 100.00 0 No comment LHX3 94.36 0 No comment LIG4 100.00 0 No comment LINS1 100.00 0 No comment LMBRD1 100.00 0 No comment LRP1 100.00 0 No comment LRP2 99.96 0 No comment LRP5 97.87 0 No comment LRPPRC 99.14 0 No comment LRRC7 100.00 0 No comment LYST 100.00 0 No comment MACF1 100.00 0 No comment MAGEL2 99.43 0 No comment MAGT1 100.00 0 No comment MAN1B1 99.99 0 No comment MAN2B1 100.00 0 No comment MANBA 99.97 0 No comment MAOA 99.95 0 No comment MAP2 100.00 0 No comment MAP2K1 100.00 0 No comment MAP2K2 99.98 0 No comment MAPK1 93.93 0 No comment MAPT 100.00 0 No comment MAT1A 100.00 0 No comment MBD3 99.22 0 No comment MBD5 100.00 0 No comment MBTPS2 100.00 0 No comment MCCC1 100.00 0 No comment MCCC2 99.99 0 No comment MCOLN1 97.27 0 No comment MCPH1 100.00 0 No comment MDM2 100.00 0 No comment MECP2 98.28 0 No comment MED12 99.96 0 No comment MED13L 100.00 0 No comment MED17 100.00 0 No comment MED23 100.00 0 No comment MEF2C 100.00 0 No comment MET 100.00 0 No comment METTL23 100.00 0 No comment MFRP 100.00 0 No comment MFSD8 100.00 0 No comment MGAT2 100.00 0 No comment MIB1 100.00 0 No comment MID1 100.00 0 No comment MID2 100.00 0 No comment MIR222 100.00 0 No comment MKKS 100.00 0 No comment MLH1 100.00 0 No comment MLYCD 85.50 0 No comment MMAA 100.00 0 No comment MMACHC 100.00 0 No comment MMADHC 100.00 0 No comment MMUT 100.00 0 No comment MOCS1 99.95 0 No comment MOCS2 100.00 0 No comment MOGS 98.73 0 No comment MPDU1 100.00 0 No comment MPDZ 100.00 0 No comment MPHOSPH8 100.00 0 No comment MPI 100.00 0 No comment MPLKIP 100.00 0 No comment MPZ 100.00 0 No comment MRAP 100.00 0 No comment MRPS22 100.00 0 No comment MSH6 100.00 0 No comment MTFMT 99.11 0 No comment MTHFR 100.00 0 No comment MTHFS 99.64 0 No comment MTM1 100.00 0 No comment MTMR2 100.00 0 No comment MTR 100.00 0 No comment MTRR 100.00 0 No comment MVK 100.00 0 No comment MYCN 86.70 0 No comment MYH7B 100.00 0 No comment MYH9 100.00 0 No comment MYO1E 99.92 0 No comment MYO3A 100.00 0 No comment MYO5A 99.60 0 No comment MYO7A 100.00 0 No comment MYOC 100.00 0 No comment MYT1L 100.00 0 No comment NAA10 96.03 0 No comment NAA15 100.00 0 No comment NAGA 100.00 0 No comment NAGLU 87.38 0 No comment NALCN 100.00 0 No comment NBN 100.00 0 No comment NCKAP1 100.00 0 No comment NDE1 100.00 0 No comment NDP 100.00 0 No comment NDST1 100.00 0 No comment NDUFA1 100.00 0 No comment NDUFA11 98.06 0 No comment NDUFA12 100.00 0 No comment NDUFAF5 100.00 0 No comment NDUFS1 100.00 0 No comment NDUFS2 100.00 0 No comment NDUFS3 100.00 0 No comment NDUFS4 100.00 0 No comment NDUFS7 99.49 0 No comment NDUFS8 100.00 0 No comment NDUFV1 100.00 0 No comment NECTIN1 100.00 0 No comment NEDD4L 100.00 0 No comment NEU1 100.00 0 No comment NEXMIF 100.00 0 No comment NF1 99.95 0 No comment NFATC1 99.84 0 No comment NFIA 100.00 0 No comment NFIX 97.15 0 No comment NGF 100.00 0 No comment NHEJ1 100.00 0 No comment NHP2 100.00 0 No comment NHS 93.25 0 No comment NIPBL 99.98 0 No comment NKX2-1 92.46 0 No comment NLGN1 100.00 0 No comment NLGN3 100.00 0 No comment NLGN4X 100.00 0 No comment NLGN4Y 55.32 0 No comment NOG 100.00 0 No comment NOTCH3 92.99 0 No comment NPC1 98.40 0 No comment NPC2 100.00 0 No comment NPHP1 100.00 0 No comment NPHP3 99.87 0 No comment NR2F1 92.00 0 No comment NR3C2 100.00 0 No comment NR4A2 100.00 0 No comment NRAS 100.00 0 No comment NRCAM 100.00 0 No comment NRXN1 98.52 0 No comment NRXN2 88.11 0 No comment NSD1 100.00 0 No comment NSD2 100.00 0 No comment NSDHL 100.00 0 No comment NSUN2 99.70 0 No comment NTRK1 98.72 0 No comment NTRK2 100.00 0 No comment NUAK1 99.97 0 No comment NUS1 100.00 0 No comment NXF5 100.00 0 No comment OBSL1 98.31 0 No comment OCA2 100.00 0 No comment OCLN 100.00 0 No comment OCRL 99.77 0 No comment OFD1 99.88 0 No comment OPHN1 100.00 0 No comment SLC25A15 100.00 0 No comment OTC 100.00 0 No comment OXTR 91.19 0 No comment PACS1 96.93 0 No comment PAFAH1B1 100.00 0 No comment PAH 99.94 0 No comment PAK3 100.00 0 No comment PANK2 98.60 0 No comment PARP1 100.00 0 No comment PAX1 89.02 0 No comment PAX5 100.00 0 No comment PAX6 100.00 0 No comment PAX8 100.00 0 No comment PBRM1 100.00 0 No comment PODXL 100.00 0 No comment PCDH10 100.00 0 No comment PCDH19 99.91 0 No comment PCGF2 100.00 0 No comment PCNT 100.00 0 No comment PDE1C 100.00 0 No comment PDE4D 98.77 0 No comment PDE8B 96.32 0 No comment PDHA1 98.17 0 No comment PDHX 99.87 0 No comment PDSS1 86.24 0 No comment PDSS2 100.00 0 No comment PEPD 99.77 0 No comment PER2 100.00 0 No comment PEX1 100.00 0 No comment PEX10 88.47 0 No comment PEX11B 100.00 0 No comment PEX12 100.00 0 No comment PEX13 100.00 0 No comment PEX16 100.00 0 No comment PEX19 100.00 0 No comment PEX2 100.00 0 No comment PEX26 100.00 0 No comment PEX3 100.00 0 No comment PEX5 100.00 0 No comment PEX6 98.56 0 No comment PEX7 91.13 0 No comment PGA5 100.00 0 No comment PGAP1 100.00 0 No comment PGAP2 100.00 0 No comment PGAP3 99.90 0 No comment PGK1 100.00 0 No comment PHF2 99.71 0 No comment PHF21A 100.00 0 No comment PHF6 100.00 0 No comment PHF8 100.00 0 No comment PHGDH 100.00 0 No comment PHIP 99.09 0 No comment PHKA2 100.00 0 No comment PHKG2 100.00 0 No comment PIAS1 100.00 0 No comment PIGA 100.00 0 No comment PIGL 100.00 0 No comment PIGN 100.00 0 No comment PIGO 100.00 0 No comment PIGT 100.00 0 No comment PIGV 100.00 0 No comment PIK3R2 89.19 0 No comment PLA2G6 100.00 0 No comment PLCB1 100.00 0 No comment PLP1 100.00 0 No comment PMM2 100.00 0 No comment PNKP 100.00 0 No comment PNP 100.00 0 No comment POC1A 99.95 0 No comment POGZ 100.00 0 No comment POLG 100.00 0 No comment POLR2M 100.00 0 No comment POLR3A 100.00 0 No comment POLR3B 100.00 0 No comment POMGNT1 100.00 0 No comment POMGNT2 100.00 0 No comment POMT1 100.00 0 No comment POMT2 99.90 0 No comment PORCN 100.00 0 No comment POT1 100.00 0 No comment POU1F1 100.00 0 No comment POU3F4 100.00 0 No comment PPM1D 100.00 0 No comment HCRT 100.00 0 No comment PPP1R1B 100.00 0 No comment PPP2R1A 100.00 0 No comment PPP2R5D 100.00 0 No comment PPT1 100.00 0 No comment PQBP1 100.00 0 No comment PRICKLE1 100.00 0 No comment PRKAR1A 100.00 0 No comment PRKRA 90.07 0 No comment PRODH 86.43 0 No comment PRPS1 100.00 0 No comment PRRT2 100.00 0 No comment PRSS12 99.65 0 No comment PSAP 100.00 0 No comment PSEN1 100.00 0 No comment PTCH1 98.48 0 No comment PTCHD1 99.99 0 No comment PTDSS1 100.00 0 No comment PTEN 98.86 0 No comment PTHLH 100.00 0 No comment PTPN11 98.80 0 No comment PUF60 99.86 0 No comment PURA 85.32 0 No comment PUS1 99.08 0 No comment PYCR1 100.00 0 No comment PYGL 100.00 0 No comment RAB11A 100.00 0 No comment RAB18 100.00 0 No comment RAB27A 100.00 0 No comment RAB39B 100.00 0 No comment RAB3GAP1 100.00 0 No comment RAB3GAP2 100.00 0 No comment RAB40AL 100.00 0 No comment RABL6 99.93 0 No comment RAC1 93.90 0 No comment RAD21 100.00 0 No comment RAF1 100.00 0 No comment RAI1 96.06 0 No comment RALGDS 94.60 0 No comment RANBP17 98.90 0 No comment RAPSN 100.00 0 No comment RARS2 100.00 0 No comment RASGEF1B 100.00 0 No comment RBBP8 100.00 0 No comment RBFOX1 99.94 0 No comment RBL2 99.65 0 No comment RBM10 100.00 0 No comment RBM28 99.99 0 No comment RELN 99.96 0 No comment RERE 99.97 0 No comment RFT1 100.00 0 No comment RFX3 100.00 0 No comment RFX6 100.00 0 No comment RIC8A 100.00 0 No comment RIMS1 99.79 0 No comment RIT1 100.00 0 No comment RMND1 100.00 0 No comment RMRP 100.00 0 No comment RNASEH2A 100.00 0 No comment RNASEH2B 95.67 0 No comment RNASEH2C 100.00 0 No comment RNASET2 99.98 0 No comment RNF213 100.00 0 No comment ROGDI 91.80 0 No comment RP2 100.00 0 No comment RPGRIP1L 96.45 0 No comment RPL15 100.00 0 No comment RPS6KA2 98.15 0 No comment RPS6KA3 98.71 0 No comment RTEL1 100.00 0 No comment RTN2 99.98 0 No comment RUBCN 97.68 0 No comment RUNX1 99.96 0 No comment RUVBL1 100.00 0 No comment RYR1 98.38 0 No comment RYR2 100.00 0 No comment S100G 100.00 0 No comment SACS 99.97 0 No comment SALL1 100.00 0 No comment SAMHD1 100.00 0 No comment SARS2 100.00 0 No comment SATB2 100.00 0 No comment SBF1 98.81 0 No comment SC5D 100.00 0 No comment SCAPER 100.00 0 No comment SCN1A 100.00 0 No comment SCN2A 100.00 0 No comment SCN7A 100.00 0 No comment SCN8A 100.00 0 No comment SCN9A 100.00 0 No comment SCO2 100.00 0 No comment SDCCAG8 100.00 0 No comment SDHA 98.02 0 No comment SDK1 95.93 0 No comment SERAC1 100.00 0 No comment SERPINB12 100.00 0 No comment SETBP1 99.99 0 No comment SETD5 100.00 0 No comment NR5A1 86.69 0 No comment SFPQ 98.66 0 No comment SGCA 100.00 0 No comment SGSH 99.99 0 No comment SHANK1 96.45 0 No comment SHANK2 100.00 0 No comment SHANK3 83.99 0 No comment SHH 92.83 0 No comment SHOC2 100.00 0 No comment SHOX 90.47 0 No comment SHROOM4 100.00 0 No comment SIL1 100.00 0 No comment SIN3A 99.82 0 No comment SIX3 99.59 0 No comment HHAT 90.28 0 No comment SLC12A6 100.00 0 No comment SLC16A2 100.00 0 No comment SLC17A5 100.00 0 No comment SLC1A1 100.00 0 No comment SLC1A4 97.95 0 No comment SLC20A2 100.00 0 No comment SLC24A2 100.00 0 No comment SLC25A1 93.77 0 No comment SLC25A12 100.00 0 No comment SLC25A13 99.94 0 No comment SLC25A22 100.00 0 No comment SLC25A24 99.82 0 No comment SLC26A9 100.00 0 No comment SLC2A1 99.94 0 No comment SLC2A2 100.00 0 No comment SLC33A1 100.00 0 No comment SLC35A2 100.00 0 No comment SLC35C1 100.00 0 No comment SLC46A1 99.95 0 No comment SLC4A4 100.00 0 No comment SLC5A2 100.00 0 No comment SLC5A5 100.00 0 No comment SLC6A1 100.00 0 No comment SLC6A17 100.00 0 No comment SLC6A3 100.00 0 No comment SLC6A4 100.00 0 No comment SLC6A8 98.78 0 No comment SLC7A7 100.00 0 No comment SLC9A6 99.96 0 No comment SLC9A9 100.00 0 No comment SLCO1B1 100.00 0 No comment SLCO1B3 100.00 0 No comment SLX4 100.00 0 No comment SMAD2 100.00 0 No comment SMAD4 100.00 0 No comment SMARCA2 98.07 0 No comment SMARCA4 100.00 0 No comment SMARCB1 100.00 0 No comment SMARCC2 100.00 0 No comment SMARCE1 100.00 0 No comment SMC1A 100.00 0 No comment SMC3 100.00 0 No comment SMG6 97.90 0 No comment SMOC1 99.36 0 No comment SMPD1 100.00 0 No comment SNAP29 100.00 0 No comment SNIP1 100.00 0 No comment SNX14 100.00 0 No comment SNX19 100.00 0 No comment SOBP 87.96 0 No comment SOS1 100.00 0 No comment SOX10 96.79 0 No comment SOX11 99.01 0 No comment SOX2 98.05 0 No comment SOX3 85.62 0 No comment SOX5 100.00 0 No comment SPAST 100.00 0 No comment SPG11 100.00 0 No comment SPG7 96.56 0 No comment SPR 96.81 0 No comment SPRED1 100.00 0 No comment SPTAN1 100.00 0 No comment SPTLC1 99.99 0 No comment SRCAP 100.00 0 No comment SRD5A3 99.42 0 No comment SREBF2 100.00 0 No comment SRGAP3 100.00 0 No comment SRPX2 100.00 0 No comment ST3GAL3 100.00 0 No comment ST3GAL5 92.64 0 No comment STAG1 100.00 0 No comment STAT5B 100.00 0 No comment STIL 100.00 0 No comment STRA6 100.00 0 No comment STS 100.00 0 No comment STT3A 100.00 0 No comment STT3B 99.25 0 No comment STX11 100.00 0 No comment STXBP1 100.00 0 No comment STXBP5 100.00 0 No comment SUCLA2 100.00 0 No comment SUCLG1 95.74 0 No comment SUOX 100.00 0 No comment SUPT16H 100.00 0 No comment SURF1 87.74 0 No comment SYN1 95.92 0 No comment SYNE1 100.00 0 No comment SYNGAP1 100.00 0 No comment SYP 99.27 0 No comment SYT14 93.04 0 No comment SYT3 100.00 0 No comment TAF1 100.00 0 No comment TAF2 100.00 0 No comment TAT 100.00 0 No comment TBC1D24 100.00 0 No comment TBC1D7 100.00 0 No comment TBCE 100.00 0 No comment TBR1 94.13 0 No comment TBX1 77.39 0 No comment TCF20 100.00 0 No comment TCF3 100.00 0 No comment TCF4 100.00 0 No comment TCF7L2 99.98 0 No comment TECR 100.00 0 No comment TENM1 100.00 0 No comment TFAP2A 100.00 0 No comment TGFBR1 92.91 0 No comment TGFBR2 100.00 0 No comment TGIF1 100.00 0 No comment TGM1 100.00 0 No comment TH 99.95 0 No comment THOC2 99.99 0 No comment THOC6 100.00 0 No comment THRA 100.00 0 No comment THRB 100.00 0 No comment TIMM8A 100.00 0 No comment TINF2 100.00 0 No comment TMCO1 100.00 0 No comment TMEM107 100.00 0 No comment TMEM135 100.00 0 No comment TMEM165 89.91 0 No comment TMEM216 100.00 0 No comment TMEM231 100.00 0 No comment TMEM237 99.97 0 No comment TMEM67 100.00 0 No comment TMEM70 100.00 0 No comment TMLHE 100.00 0 No comment TNK2 100.00 0 No comment TNRC6B 100.00 0 No comment TOPORS 100.00 0 No comment TOR1A 99.99 0 No comment TDO2 100.00 0 No comment TPK1 100.00 0 No comment THPO 99.84 0 No comment ACD 100.00 0 No comment TRAPPC10 99.93 0 No comment TRAPPC11 100.00 0 No comment TRAPPC9 99.98 0 No comment TREX1 100.00 0 No comment TRHR 100.00 0 No comment TRIM10 100.00 0 No comment TRIM3 100.00 0 No comment TRIM32 100.00 0 No comment TRIO 97.46 0 No comment TRIP12 100.00 0 No comment TRMT1 100.00 0 No comment TRMT10A 100.00 0 No comment TRPM6 100.00 0 No comment TRPV4 100.00 0 No comment TSC1 100.00 0 No comment TSC2 100.00 0 No comment TSEN54 94.23 0 No comment TSHR 100.00 0 No comment TSPAN7 99.99 0 No comment TSPOAP1 99.98 0 No comment SKIC3 100.00 0 No comment TTC8 100.00 0 No comment TTI1 100.00 0 No comment TTI2 100.00 0 No comment TTR 100.00 0 No comment TUBA1A 100.00 0 No comment TUBA8 100.00 0 No comment TUBB2B 100.00 0 No comment TUBB3 98.24 0 No comment TUBGCP6 100.00 0 No comment TUSC3 100.00 0 No comment TWIST1 70.93 0 No comment UBE2A 99.62 0 No comment UBE3A 100.00 0 No comment UBE3B 100.00 0 No comment UBR1 100.00 0 No comment UBTF 100.00 0 No comment UPB1 100.00 0 No comment UPF3B 100.00 0 No comment UROC1 100.00 0 No comment USP9X 100.00 0 No comment UTP6 100.00 0 No comment VCP 98.45 0 No comment VLDLR 96.53 0 No comment VPS13B 99.25 0 No comment VPS39 100.00 0 No comment VPS4A 100.00 0 No comment VRK1 100.00 0 No comment WAC 100.00 0 No comment WASHC4 99.72 0 No comment WDFY3 100.00 0 No comment WDR11 100.00 0 No comment WDR13 100.00 0 No comment WDR19 100.00 0 No comment WDR26 100.00 0 No comment WDR45 100.00 0 No comment WDR45B 100.00 0 No comment WDR62 100.00 0 No comment WDR81 99.97 0 No comment WNT2 100.00 0 No comment WRN 100.00 0 No comment WWOX 100.00 0 No comment XPA 99.35 0 No comment XPNPEP3 93.18 0 No comment XPO5 100.00 0 No comment XYLT1 88.83 0 No comment YAP1 96.50 0 No comment YEATS2 100.00 0 No comment YWHAE 98.69 0 No comment YY1 99.92 0 No comment ZBTB16 100.00 0 No comment ZBTB18 100.00 0 No comment ZBTB20 100.00 0 No comment ZBTB24 100.00 0 No comment ZC3H14 100.00 0 No comment ZC3H4 99.94 0 No comment ZCCHC12 100.00 0 No comment ZDHHC15 100.00 0 No comment ZDHHC9 100.00 0 No comment ZEB2 100.00 0 No comment ZFHX4 100.00 0 No comment ZFP57 100.00 0 No comment ZFYVE26 100.00 0 No comment ZIC2 80.54 0 No comment ZMYM3 100.00 0 No comment ZMYND11 100.00 0 No comment ZNF292 100.00 0 No comment ZNF407 100.00 0 No comment ZNF41 100.00 0 No comment ZNF526 100.00 0 No comment ZNF559 100.00 0 No comment ZNF592 100.00 0 No comment ZNF594 100.00 0 No comment ZNF599 100.00 0 No comment ZNF674 100.00 0 No comment ZNF697 95.04 0 No comment ZNF711 100.00 0 No comment ZNF774 100.00 0 No comment ZNF8 100.00 0 No comment ZNF81 100.00 0 No comment ZNF827 100.00 0 No comment -
Neuromuscular disorders (548 genes) - ULB
Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments AARS1 100.00 0 No comment ABCD1 97.56 0 No comment ABHD12 88.30 0 No comment ABHD5 99.85 0 No comment ACAD9 100.00 0 No comment ACADL 98.57 0 No comment ACADM 99.87 0 No comment ACADS 97.51 0 No comment ACADVL 98.04 0 No comment ACTA1 99.79 0 No comment ACVR1 100.00 0 No comment ADAR 100.00 0 No comment ADSS1 99.98 0 No comment AFG3L2 94.80 0 No comment AGK 100.00 0 No comment AGL 100.00 0 No comment AGRN 96.53 0 No comment AIFM1 99.98 0 No comment AIMP1 99.97 0 No comment ALDH18A1 100.00 0 No comment ALDH3A2 99.94 0 No comment ALDOA 100.00 0 No comment ALG13 99.53 0 No comment ALG14 100.00 0 No comment ALG2 99.83 0 No comment ALS2 100.00 0 No comment AMPD1 100.00 0 No comment AMPD2 99.90 0 No comment ANG 100.00 0 No comment ANO5 100.00 0 No comment ANXA11 99.99 0 No comment AP4B1 100.00 0 No comment AP4E1 99.99 0 No comment AP4M1 100.00 0 No comment AP4S1 100.00 0 No comment AP5Z1 99.25 0 No comment APTX 99.96 0 No comment AR 100.00 0 No comment ARG1 100.00 0 No comment ARHGEF10 99.98 0 No comment ARHGEF28 99.05 0 No comment ARL6IP1 100.00 0 No comment ARSI 99.82 0 No comment ASAH1 100.00 0 No comment ASCC1 91.30 0 No comment ATL1 99.89 0 No comment ATL3 99.93 0 No comment ATM 100.00 0 No comment ATP13A2 98.30 0 No comment ATP1A1 100.00 0 No comment ATP2A1 100.00 0 No comment ATP7A 100.00 0 No comment ATXN2 93.25 0 No comment AUH 99.24 0 No comment B3GALNT2 92.96 0 No comment B4GAT1 99.99 0 No comment B4GALNT1 99.99 0 No comment BAG3 100.00 0 No comment BCS1L 100.00 0 No comment BICD2 100.00 0 No comment BIN1 99.94 0 No comment BSCL2 100.00 0 No comment BVES 100.00 0 No comment TWNK 100.00 0 No comment MTRFR 100.00 0 No comment C19ORF12 100.00 0 No comment C1QBP 99.47 0 No comment C9ORF72 99.96 0 No comment CACNA1A 99.53 0 No comment CACNA1S 100.00 0 No comment CAPN1 99.97 0 No comment CAPN3 99.99 0 No comment CASQ1 100.00 0 No comment CAV3 100.00 0 No comment CCDC78 100.00 0 No comment CCT5 99.92 0 No comment CFL2 100.00 0 No comment CHAT 99.97 0 No comment CHCHD10 99.66 0 No comment CHKB 99.75 0 No comment CHMP2B 100.00 0 No comment CHRNA1 99.99 0 No comment CHRNB1 99.95 0 No comment CHRND 100.00 0 No comment CHRNE 100.00 0 No comment CHRNG 99.87 0 No comment CHST14 99.50 0 No comment CLCN1 100.00 0 No comment CLN3 100.00 0 No comment CLN8 100.00 0 No comment CLTCL1 99.04 0 No comment CNBP 100.00 0 No comment CNTN1 100.00 0 No comment CNTNAP1 100.00 0 No comment COL12A1 100.00 0 No comment COL13A1 99.52 0 No comment COL6A1 99.90 0 No comment COL6A2 99.98 0 No comment COL6A3 100.00 0 No comment COLQ 100.00 0 No comment COQ9 100.00 0 No comment COX10 100.00 0 No comment COX15 99.99 0 No comment COX20 100.00 0 No comment COX6A1 100.00 0 No comment COX6B1 100.00 0 No comment COX8A 100.00 0 No comment CPT1C 100.00 0 No comment CPT2 98.55 0 No comment CRYAB 100.00 0 No comment CSF1R 99.99 0 No comment CTDP1 100.00 0 No comment CYP27A1 99.38 0 No comment CYP2U1 93.20 0 No comment CYP7B1 95.41 0 No comment DAG1 100.00 0 No comment DARS2 100.00 0 No comment DCAF8 100.00 0 No comment DCTN1 100.00 0 No comment DDHD1 99.58 0 No comment DDHD2 100.00 0 No comment DES 100.00 0 No comment DGAT2 100.00 0 No comment DGUOK 100.00 0 No comment DHTKD1 99.54 0 No comment DMD 99.96 0 No comment DMPK 99.91 0 No comment DMXL2 100.00 0 No comment DNAJB2 100.00 0 No comment DNAJB6 91.94 0 No comment DNM2 99.84 0 No comment DNMT1 99.54 0 No comment DOK7 97.44 0 No comment DOLK 100.00 0 No comment DPAGT1 100.00 0 No comment DPM1 100.00 0 No comment DPM2 100.00 0 No comment DPM3 100.00 0 No comment DST 100.00 0 No comment DYNC1H1 99.92 0 No comment DYSF 99.72 0 No comment ECEL1 99.80 0 No comment EGR2 100.00 0 No comment ELOVL4 100.00 0 No comment EMD 98.97 0 No comment ENO3 100.00 0 No comment ENTPD1 100.00 0 No comment ERBB3 100.00 0 No comment ERBB4 100.00 0 No comment ERCC2 98.91 0 No comment ERLIN1 100.00 0 No comment ERLIN2 100.00 0 No comment ETFA 100.00 0 No comment ETFB 100.00 0 No comment ETFDH 100.00 0 No comment EXOSC3 100.00 0 No comment EXOSC8 100.00 0 No comment FA2H 95.71 0 No comment FAM111B 100.00 0 No comment HYCC1 100.00 0 No comment RETREG1 93.72 0 No comment FARS2 100.00 0 No comment FASTKD2 100.00 0 No comment FBLN5 100.00 0 No comment FBN2 100.00 0 No comment FBXL4 100.00 0 No comment FBXO38 100.00 0 No comment FBXO7 99.78 0 No comment FDX2 100.00 0 No comment FGD4 99.98 0 No comment CFH 100.00 0 No comment FIG4 100.00 0 No comment FKRP 100.00 0 No comment FKTN 100.00 0 No comment FLAD1 100.00 0 No comment FLNC 100.00 0 No comment FLRT1 100.00 0 No comment FLVCR1 100.00 0 No comment FOXRED1 100.00 0 No comment FUS 100.00 0 No comment FXN 94.27 0 No comment GAA 100.00 0 No comment GABRA3 99.59 0 No comment GAD1 100.00 0 No comment GALC 98.98 0 No comment GAN 98.52 0 No comment GARS1 97.89 0 No comment GART 99.99 0 No comment GBA1 100.00 0 No comment GBA2 100.00 0 No comment GBE1 100.00 0 No comment GCH1 99.71 0 No comment GDAP1 100.00 0 No comment GFAP 100.00 0 No comment GFER 99.09 0 No comment GFPT1 99.94 0 No comment GGPS1 100.00 0 No comment GJB1 100.00 0 No comment GJB3 100.00 0 No comment GJC2 96.72 0 No comment GLA 100.00 0 No comment GLB1 100.00 0 No comment GLE1 100.00 0 No comment GLI3 100.00 0 No comment GLTP 100.00 0 No comment GMPPB 100.00 0 No comment GNB4 100.00 0 No comment GNE 100.00 0 No comment GOLGA2 95.41 0 No comment GOSR2 100.00 0 No comment GSN 97.80 0 No comment GYG1 94.40 0 No comment GYS1 100.00 0 No comment HADHA 100.00 0 No comment HADHB 100.00 0 No comment HARS1 99.73 0 No comment HEPACAM 99.85 0 No comment HEXA 100.00 0 No comment HEXB 99.19 0 No comment HINT1 100.00 0 No comment HK1 100.00 0 No comment HNRNPA1 97.19 0 No comment HNRNPA2B1 100.00 0 No comment HNRNPDL 99.98 0 No comment HOXD10 100.00 0 No comment HRAS 100.00 0 No comment HSD17B4 100.00 0 No comment HSPB1 100.00 0 No comment HSPB3 100.00 0 No comment HSPB8 100.00 0 No comment HSPD1 95.18 0 No comment HSPG2 99.19 0 No comment IBA57 92.01 0 No comment IFIH1 100.00 0 No comment IFRD1 98.86 0 No comment IGHMBP2 99.38 0 No comment ELP1 100.00 0 No comment INF2 99.92 0 No comment INPP5K 99.31 0 No comment ISCU 98.41 0 No comment CRPPA 95.50 0 No comment ITGA7 100.00 0 No comment KARS1 100.00 0 No comment KBTBD13 99.16 0 No comment KCNA1 100.00 0 No comment KCNE1 100.00 0 No comment KCNE2 100.00 0 No comment KCNE3 100.00 0 No comment KCNH2 98.15 0 No comment KCNJ12 100.00 0 No comment KCNJ2 100.00 0 No comment KCNQ1 100.00 0 No comment WASHC5 100.00 0 No comment KIF1A 98.74 0 No comment KIF1B 99.84 0 No comment KIF1C 100.00 0 No comment KIF21A 98.54 0 No comment KIF5A 100.00 0 No comment KLC4 99.99 0 No comment KLHL40 100.00 0 No comment KLHL41 100.00 0 No comment KLHL9 100.00 0 No comment KY 100.00 0 No comment L1CAM 99.98 0 No comment LAMA2 100.00 0 No comment LAMA5 98.39 0 No comment LAMB2 100.00 0 No comment LAMP2 99.60 0 No comment LARGE1 100.00 0 No comment LDB3 100.00 0 No comment LDHA 99.42 0 No comment LGI4 100.00 0 No comment LIMS2 91.30 0 No comment LITAF 100.00 0 No comment LMNA 99.28 0 No comment LMOD3 100.00 0 No comment LPIN1 99.97 0 No comment CORIN 99.01 0 No comment LRPPRC 98.80 0 No comment LRSAM1 99.33 0 No comment MARS1 100.00 0 No comment MATR3 100.00 0 No comment MB 100.00 0 No comment MED25 100.00 0 No comment MEGF10 99.99 0 No comment MFN2 100.00 0 No comment MLC1 98.57 0 No comment MAP3K20 100.00 0 No comment MARS2 100.00 0 No comment MME 100.00 0 No comment MORC2 100.00 0 No comment MPV17 100.00 0 No comment MPZ 99.80 0 No comment MSTN 100.00 0 No comment MTM1 99.91 0 No comment MTMR14 99.92 0 No comment MTMR2 99.55 0 No comment MTPAP 99.98 0 No comment MUSK 100.00 0 No comment MYBPC1 100.00 0 No comment MYBPC3 100.00 0 No comment MYH7B 99.85 0 No comment MYH2 100.00 0 No comment MYH3 100.00 0 No comment MYH4 100.00 0 No comment MYH7 100.00 0 No comment MYH8 100.00 0 No comment MYL1 100.00 0 No comment MYO18B 99.80 0 No comment MYO9A 99.74 0 No comment MYOT 100.00 0 No comment MYPN 99.97 0 No comment NAGLU 96.69 0 No comment NDRG1 100.00 0 No comment NDUFA1 100.00 0 No comment NDUFA10 96.45 0 No comment NDUFA11 100.00 0 No comment NDUFA12 100.00 0 No comment NDUFA2 100.00 0 No comment NDUFA3 100.00 0 No comment NDUFA9 100.00 0 No comment NDUFAF1 100.00 0 No comment NDUFAF2 100.00 0 No comment NDUFAF5 99.96 0 No comment NDUFAF6 95.61 0 No comment NDUFS1 100.00 0 No comment NDUFS2 100.00 0 No comment NDUFS3 100.00 0 No comment NDUFS4 99.96 0 No comment NDUFS7 93.34 0 No comment NDUFS8 100.00 0 No comment NDUFV1 99.62 0 No comment NDUFV2 100.00 0 No comment NEB 100.00 0 No comment NEFH 81.41 0 No comment NEFL 100.00 0 No comment NEK1 99.98 0 No comment NGF 100.00 0 No comment NIPA1 92.99 0 No comment NT5C2 100.00 0 No comment NTRK1 98.36 0 No comment NUBPL 99.92 0 No comment MED12 99.98 0 No comment OPA3 100.00 0 No comment OPTN 100.00 0 No comment ORAI1 92.14 0 No comment P4HA1 100.00 0 No comment PABPN1 100.00 0 No comment PANK2 100.00 0 No comment PDHA1 92.64 0 No comment PDK3 97.80 0 No comment PDYN 100.00 0 No comment PET100 100.00 0 No comment PEX1 100.00 0 No comment PEX7 95.60 0 No comment PFKM 100.00 0 No comment PFN1 100.00 0 No comment PGAM2 99.97 0 No comment PGAP1 100.00 0 No comment PGK1 99.88 0 No comment PGM1 100.00 0 No comment PHKA1 99.99 0 No comment PHKB 99.97 0 No comment PHOX2A 96.24 0 No comment PHYH 99.81 0 No comment PIEZO2 100.00 0 No comment PIP5K1C 94.98 0 No comment PLA2G6 100.00 0 No comment PLEC 99.26 0 No comment PLEKHG5 100.00 0 No comment PLP1 100.00 0 No comment PMP2 100.00 0 No comment PMP22 100.00 0 No comment PNKP 99.84 0 No comment PNPLA2 98.21 0 No comment PNPLA6 99.95 0 No comment PNPLA8 100.00 0 No comment POGLUT1 100.00 0 No comment POLG 100.00 0 No comment POLG2 100.00 0 No comment POLR3A 100.00 0 No comment POLR3B 100.00 0 No comment POMGNT1 100.00 0 No comment POMGNT2 100.00 0 No comment POMK 100.00 0 No comment POMT1 100.00 0 No comment POMT2 99.53 0 No comment PPP2R2B 100.00 0 No comment PRDM12 81.28 0 No comment PREPL 99.98 0 No comment PRKAG2 95.75 0 No comment PRNP 99.92 0 No comment PRPH 99.62 0 No comment PRPS1 99.91 0 No comment PRUNE1 100.00 0 No comment PRX 99.89 0 No comment PSEN1 100.00 0 No comment HACD1 94.60 0 No comment CAVIN1 100.00 0 No comment PTRH2 99.91 0 No comment PUS1 100.00 0 No comment PYGM 100.00 0 No comment PYROXD1 99.99 0 No comment RAB3GAP2 100.00 0 No comment RAB7A 100.00 0 No comment RAPSN 100.00 0 No comment RBCK1 99.76 0 No comment RBM7 100.00 0 No comment REEP1 100.00 0 No comment REEP2 97.04 0 No comment RNASEH2B 94.58 0 No comment RNASET2 100.00 0 No comment RRM2B 100.00 0 No comment RTN2 99.44 0 No comment RYR1 99.39 0 No comment RYR3 100.00 0 No comment SACS 99.95 0 No comment SBF1 98.38 0 No comment SBF2 99.92 0 No comment SCN10A 100.00 0 No comment SCN11A 99.98 0 No comment SCN4A 100.00 0 No comment SCN5A 100.00 0 No comment SCN9A 99.99 0 No comment SCO1 100.00 0 No comment SCO2 93.85 0 No comment SELENON 84.10 0 No comment SEPTIN9 99.38 0 No comment SETX 100.00 0 No comment SGCA 100.00 0 No comment SGCB 91.50 0 No comment SGCD 100.00 0 No comment SGCE 93.30 0 No comment SGCG 100.00 0 No comment SGPL1 100.00 0 No comment SH3TC2 100.00 0 No comment SIGMAR1 92.51 0 No comment SIL1 99.95 0 No comment SLC12A6 100.00 0 No comment SLC16A1 100.00 0 No comment SLC16A2 99.97 0 No comment SLC18A3 100.00 0 No comment SLC22A5 100.00 0 No comment SLC25A15 100.00 0 No comment SLC25A20 100.00 0 No comment SLC25A4 99.81 0 No comment SLC25A42 99.60 0 No comment SLC25A46 100.00 0 No comment SLC2A1 100.00 0 No comment SLC33A1 100.00 0 No comment SLC52A2 100.00 0 No comment SLC52A3 99.86 0 No comment SLC5A7 100.00 0 No comment SMCHD1 100.00 0 No comment SMN1 100.00 0 No comment SNAP25 100.00 0 No comment SOD1 100.00 0 No comment SOX10 95.36 0 No comment SPAST 99.83 0 No comment SPEG 98.78 0 No comment SPG11 100.00 0 No comment SPART 100.00 0 No comment SPG21 100.00 0 No comment SPG7 95.78 0 No comment SPR 99.98 0 No comment SPTBN4 98.07 0 No comment SPTLC1 99.27 0 No comment SPTLC2 96.43 0 No comment SQSTM1 94.05 0 No comment SRPK3 98.13 0 No comment STAC3 100.00 0 No comment STIM1 100.00 0 No comment SUCLA2 99.86 0 No comment SUCLG1 93.27 0 No comment SUN1 100.00 0 No comment SURF1 100.00 0 No comment SYNE1 100.00 0 No comment SYNE2 100.00 0 No comment SYT2 99.96 0 No comment TACO1 99.66 0 No comment TANGO2 99.94 0 No comment TARDBP 100.00 0 No comment TARS2 100.00 0 No comment WWTR1 97.30 0 No comment TBCE 100.00 0 No comment TBK1 99.99 0 No comment TCAP 100.00 0 No comment TDP1 100.00 0 No comment TECPR2 99.92 0 No comment TFG 99.98 0 No comment TGM6 100.00 0 No comment TH 98.79 0 No comment TIA1 100.00 0 No comment TK2 100.00 0 No comment TMEM43 100.00 0 No comment RXYLT1 100.00 0 No comment TMEM65 90.50 0 No comment MYMK 100.00 0 No comment TNNI2 100.00 0 No comment TNNT1 94.05 0 No comment TNNT3 100.00 0 No comment TNPO3 100.00 0 No comment TOR1A 99.70 0 No comment TOR1AIP1 100.00 0 No comment TPI1 99.90 0 No comment TPM2 100.00 0 No comment TPM3 98.74 0 No comment TRAPPC11 99.97 0 No comment TRIM2 100.00 0 No comment TRIM32 100.00 0 No comment TRIM54 96.63 0 No comment TRIM63 100.00 0 No comment TRIP4 100.00 0 No comment TRMT5 100.00 0 No comment TRPV4 100.00 0 No comment TSFM 86.80 0 No comment TTBK2 100.00 0 No comment TTN 100.00 0 No comment TTR 100.00 0 No comment TUBA4A 100.00 0 No comment TUBB3 99.01 0 No comment TUBB4A 100.00 0 No comment TYMP 100.00 0 No comment UBA1 100.00 0 No comment UBQLN2 99.30 0 No comment UNC13A 99.74 0 No comment USP8 100.00 0 No comment VAMP1 100.00 0 No comment VAPB 99.77 0 No comment VARS2 100.00 0 No comment VCP 97.10 0 No comment VMA21 77.99 0 No comment VPS33B 100.00 0 No comment VPS37A 99.28 0 No comment VRK1 100.00 0 No comment WARS1 100.00 0 No comment WDR45 100.00 0 No comment WDR48 100.00 0 No comment WNK1 100.00 0 No comment XK 99.44 0 No comment YARS1 100.00 0 No comment YARS2 100.00 0 No comment ZC4H2 100.00 0 No comment ZFHX2 100.00 0 No comment ZFR 100.00 0 No comment ZFYVE26 100.00 0 No comment ZFYVE27 100.00 0 No comment -
Neuromuscular disorders (166 genes) - VUB
Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments ACADVL 0.00 0 No value for column 2 ACTA1 0.00 0 No value for column 2 AGRN 0.00 0 No value for column 2 ALDOA 0.00 0 No value for column 2 ALG14 0.00 0 No value for column 2 ALG2 99.94 0 No comment ALS2 100.00 0 No comment ANG 100.00 0 No comment ANO5 100.00 0 No comment ASAH1 99.94 0 No comment ATP7A 100.00 0 No comment ATXN2 89.10 0 No comment B3GALNT2 85.88 0 No comment B4GAT1 100.00 0 No comment BAG3 100.00 0 No comment BICD2 100.00 0 No comment BIN1 100.00 0 No comment BSCL2 100.00 0 No comment C9ORF72 100.00 0 No comment CAV3 100.00 0 No comment CFL2 99.75 0 No comment CHAT 100.00 0 No comment CHKB 99.69 0 No comment CHRNA1 100.00 0 No comment CHRNB1 100.00 0 No comment CHRND 100.00 0 No comment CHRNE 100.00 0 No comment CHRNG 100.00 0 No comment COL6A1 100.00 0 No comment COL6A2 100.00 0 No comment COL6A3 100.00 0 No comment COLQ 100.00 0 No comment CPT2 98.71 0 No comment CRPPA 95.75 0 No comment CRYAB 100.00 0 No comment DAG1 100.00 0 No comment DAO 100.00 0 No comment DCTN1 100.00 0 No comment DES 100.00 0 No comment DGUOK 100.00 0 No comment DMD 100.00 0 No comment DNAJB2 100.00 0 No comment DNAJB6 99.34 0 No comment DNM2 99.95 0 No comment DOK7 98.77 0 No comment DOLK 100.00 0 No comment DPAGT1 100.00 0 No comment DPM1 100.00 0 No comment DPM2 100.00 0 No comment DPM3 100.00 0 No comment DYNC1H1 100.00 0 No comment DYSF 100.00 0 No comment ECEL1 95.92 0 No comment EMD 99.84 0 No comment ENO3 100.00 0 No comment ETFA 100.00 0 No comment ETFB 100.00 0 No comment ETFDH 100.00 0 No comment EXOSC3 100.00 0 No comment FBLN5 100.00 0 No comment FBXO38 100.00 0 No comment FDX2 100.00 0 No comment CFH 100.00 0 No comment FKRP 98.68 0 No comment FKTN 100.00 0 No comment FLNC 100.00 0 No comment FUS 100.00 0 No comment GAA 100.00 0 No comment GARS1 99.53 0 No comment GFPT1 99.98 0 No comment GLE1 100.00 0 No comment GMPPB 100.00 0 No comment GNE 100.00 0 No comment GRN 100.00 0 No comment HADHA 100.00 0 No comment HADHB 100.00 0 No comment HARS1 100.00 0 No comment HEXB 99.82 0 No comment HNRNPA1 99.61 0 No comment HNRNPA2B1 100.00 0 No comment HSPB1 100.00 0 No comment HSPB3 100.00 0 No comment HSPB8 100.00 0 No comment IGHMBP2 100.00 0 No comment ISCU 99.39 0 No comment KBTBD13 97.91 0 No comment KLHL40 100.00 0 No comment KLHL9 100.00 0 No comment LAMA2 100.00 0 No comment LAMB2 100.00 0 No comment LARGE1 100.00 0 No comment LAS1L 100.00 0 No comment LDB3 100.00 0 No comment LMNA 99.93 0 No comment LPIN1 100.00 0 No comment CORIN 98.90 0 No comment MATR3 100.00 0 No comment MEGF10 100.00 0 No comment MTM1 100.00 0 No comment MUSK 100.00 0 No comment MYBPC3 100.00 0 No comment MYH7B 100.00 0 No comment MYH3 100.00 0 No comment MYH7 100.00 0 No comment MYH8 100.00 0 No comment MYOT 100.00 0 No comment NEB 99.99 0 No comment NEFH 84.73 0 No comment OPTN 100.00 0 No comment PABPN1 91.84 0 No comment PFKM 100.00 0 No comment PFN1 100.00 0 No comment PGAM2 100.00 0 No comment PGK1 100.00 0 No comment PGM1 100.00 0 No comment PHKA1 100.00 0 No comment PHKB 100.00 0 No comment PLEC 99.82 0 No comment PLEKHG5 99.10 0 No comment POLG 100.00 0 No comment POMGNT1 100.00 0 No comment POMGNT2 100.00 0 No comment POMK 100.00 0 No comment POMT1 100.00 0 No comment POMT2 99.90 0 No comment PREPL 100.00 0 No comment PYGM 100.00 0 No comment QDPR 99.04 0 No comment RAPSN 100.00 0 No comment REEP1 97.37 0 No comment RXYLT1 99.84 0 No comment RYR1 98.38 0 No comment SCN4A 100.00 0 No comment SELENON 84.04 0 No comment SETX 100.00 0 No comment SIGMAR1 96.60 0 No comment SIL1 100.00 0 No comment SLC18A3 100.00 0 No comment SLC52A2 100.00 0 No comment SLC52A3 100.00 0 No comment SLC5A7 100.00 0 No comment SMN1 96.55 0 No comment SNAP25 100.00 0 No comment SOD1 100.00 0 No comment SQSTM1 93.68 0 No comment SYT2 100.00 0 No comment TAF15 100.00 0 No comment TARDBP 100.00 0 No comment TFG 100.00 0 No comment TIA1 100.00 0 No comment TNNI2 100.00 0 No comment TNNT1 98.58 0 No comment TNNT3 100.00 0 No comment TNPO3 100.00 0 No comment TPM2 100.00 0 No comment TPM3 99.55 0 No comment TRPV4 100.00 0 No comment TSEN54 94.23 0 No comment TTN 100.00 0 No comment UBA1 100.00 0 No comment UBQLN2 99.88 0 No comment UNC13A 99.87 0 No comment VAPB 100.00 0 No comment VCP 98.45 0 No comment VEGFA 98.73 0 No comment VRK1 100.00 0 No comment -
Neuromuscular disorders (232 genes) - KUL
Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments NEB 88.70 0 NM_001271208.1 SELENON 92.30 0 NM_020451.2 TSEN54 97.70 0 NM_207346.2 DOK7 97.90 0 NM_173660.4 ORAI1 97.90 0 NM_032790.3 CRPPA 98.60 0 NM_001101426.3 PGAM2 98.80 0 NM_000290.3 AGRN 99.00 0 NM_198576.3 HSPB1 99.00 0 NM_001540.4 POMT2 99.00 0 NM_013382.5 CACNA1H 99.10 0 NM_021098.2 RYR1 99.10 0 NM_000540.2 SPTBN4 99.30 0 NM_020971.2 TNNT1 99.50 0 NM_003283.5 HSPG2 99.50 0 NM_005529.6 CAPN3 99.60 0 NM_000070.2 GMPPB 99.60 0 NM_013334.3 ACADVL 99.60 0 NM_000018.3 LAMA5 99.60 0 NM_005560.4 B3GALNT2 99.70 0 NM_152490.4 SCN4A 99.70 0 NM_000334.4 ISCU 99.70 0 NM_213595.3 MATR3 99.70 0 NM_199189.2 SLC16A1 99.80 0 NM_003051.3 COL6A1 99.80 0 NM_001848.2 CHD8 99.80 0 NM_001170629.1 RAPSN 99.80 0 NM_005055.4 CACNA1A 99.80 0 NM_001127221.1 MYH7B 99.80 0 NM_024729.3 DCST2 99.80 0 NM_144622.2 CHRNE 99.80 0 NM_000080.3 SGCG 99.90 0 NM_000231.2 DYSF 99.90 0 NM_003494.3 MYL2 99.90 0 NM_000432.3 CHRNA1 99.90 0 NM_000079.3 ECEL1 99.90 0 NM_004826.3 PNPLA2 99.90 0 NM_020376.3 FXR1 99.90 0 NM_005087.3 TTN 99.90 0 NM_133378.4 PNPLA8 99.90 0 NM_015723.4 ATP2A1 99.90 0 NM_173201.3 COL6A2 99.90 0 NM_001849.3 MYBPC3 99.90 0 NM_000256.3 VCP 99.90 0 NM_007126.4 TRDN 99.90 0 NM_006073.3 GYS1 99.90 0 NM_002103.4 ALG13 99.90 0 NM_001099922.2 MYO18B 99.90 0 NM_032608.6 TK2 99.90 0 NM_004614.4 PHKB 99.90 0 NM_000293.2 SYT2 99.90 0 NM_177402.4 LDHA 99.90 0 NM_005566.3 LMNA 99.90 0 NM_170707.3 CFL2 99.90 0 NM_021914.7 TIA1 100.00 0 NM_022173.3 MYF6 100.00 0 NM_002469.2 KCNJ18 100.00 0 NM_001194958.2 DPM1 100.00 0 NM_003859.2 HNRNPDL 100.00 0 NM_031372.3 TPM2 100.00 0 NM_003289.3 CACNA1S 100.00 0 NM_000069.2 FLNC 100.00 0 NM_001458.4 CHRNB1 100.00 0 NM_000747.2 CCDC78 100.00 0 NM_001031737.2 ETFA 100.00 0 NM_000126.3 DNAJB6 100.00 0 NM_058246.3 DMPK 100.00 0 NM_001081563.2 CORIN 100.00 0 NM_002334.3 HACD1 100.00 0 NM_014241.3 EMD 100.00 0 NM_000117.2 TRIP4 100.00 0 NM_016213.4 MYL1 100.00 0 NM_079420.2 ETFDH 100.00 0 NM_004453.3 FKRP 100.00 0 NM_024301.4 DNA2 100.00 0 NM_001080449.2 PLEC 100.00 0 NM_000445.4 PABPN1 100.00 0 NM_004643.3 SPEG 100.00 0 NM_005876.4 ITGA7 100.00 0 NM_002206.2 POMT1 100.00 0 NM_007171.3 GFPT1 100.00 0 NM_002056.3 SYNE1 100.00 0 NM_033071.3 LPIN1 100.00 0 NM_145693.3 ENO3 100.00 0 NM_053013.3 GOLGA2 100.00 0 NM_004486.4 CHKB 100.00 0 NM_005198.4 AMPD1 100.00 0 NM_000036.2 ACTA1 100.00 0 NM_001100.3 ACVR1 100.00 0 NM_001105.4 HADHB 100.00 0 NM_000183.2 KCNA1 100.00 0 NM_000217.2 ANO5 100.00 0 NM_213599.2 INPP5K 100.00 0 NM_016532.3 SMCHD1 100.00 0 NM_015295.2 ADSS1 100.00 0 NM_199165.2 TRIM63 100.00 0 NM_032588.3 COL13A1 100.00 0 NM_001130103.1 TOP3A 100.00 0 NM_004618.4 COL12A1 100.00 0 NM_004370.5 MYPN 100.00 0 NM_032578.3 SYNE2 100.00 0 NM_182914.2 ACTN2 100.00 0 NM_001103.3 PREPL 100.00 0 NM_006036.4 MYH3 100.00 0 NM_002470.3 SGCB 100.00 0 NM_000232.4 PHKA1 100.00 0 NM_002637.3 CLCN1 100.00 0 NM_000083.2 KBTBD13 100.00 0 NM_001101362.2 CHAT 100.00 0 NM_020549.4 AGL 100.00 0 NM_000642.2 MUSK 100.00 0 NM_005592.3 CASQ1 100.00 0 NM_001231.4 ACADS 100.00 0 NM_000017.3 PYGM 100.00 0 NM_005609.3 GAA 100.00 0 NM_000152.4 TRAPPC11 100.00 0 NM_021942.5 MYO9A 100.00 0 NM_006901.3 COL6A3 100.00 0 NM_004369.3 DMD 100.00 0 NM_004006.2 MYH7 100.00 0 NM_000257.3 MYBPC1 100.00 0 NM_002465.3 RYR3 100.00 0 NM_001036.4 ABHD5 100.00 0 NM_016006.5 ACAD9 100.00 0 NM_014049.4 ACADL 100.00 0 NM_001608.3 ACADM 100.00 0 NM_000016.5 ALDOA 100.00 0 NM_000034.3 ALG14 100.00 0 NM_144988.3 ALG2 100.00 0 NM_033087.3 ATP1A2 100.00 0 NM_000702.3 B4GAT1 100.00 0 NM_006876.2 BAG3 100.00 0 NM_004281.3 BIN1 100.00 0 NM_139343.2 BVES 100.00 0 NM_007073.4 CAV3 100.00 0 NM_033337.2 CAVIN1 100.00 0 NM_012232.5 CHRND 100.00 0 NM_000751.2 CHRNG 100.00 0 NM_005199.4 CNTN1 100.00 0 NM_001843.3 COLQ 100.00 0 NM_005677.3 CPT2 100.00 0 NM_000098.2 CRYAB 100.00 0 NM_001885.2 DAG1 100.00 0 NM_004393.5 DES 100.00 0 NM_001927.3 DNM2 100.00 0 NM_001005360.2 DOLK 100.00 0 NM_014908.3 DPAGT1 100.00 0 NM_001382.3 DPM2 100.00 0 NM_003863.3 DPM3 100.00 0 NM_153741.1 ETFB 100.00 0 NM_001985.2 EXOSC3 100.00 0 NM_016042.3 CFH 100.00 0 NM_001449.4 FKBP14 100.00 0 NM_017946.3 FKTN 100.00 0 NM_001079802.1 FLAD1 100.00 0 NM_025207.4 GBE1 100.00 0 NM_000158.3 GGPS1 100.00 0 NM_001037277.1 GNE 100.00 0 NM_001128227.2 GYG1 100.00 0 NM_004130.3 HADH 100.00 0 NM_005327.4 HADHA 100.00 0 NM_000182.4 HINT1 100.00 0 NM_005340.6 HNRNPA1 100.00 0 NM_031157.3 HNRNPA2B1 100.00 0 NM_031243.2 HRAS 100.00 0 NM_005343.3 HSPB8 100.00 0 NM_014365.2 KCNE3 100.00 0 NM_005472.4 KCNJ2 100.00 0 NM_000891.2 KLHL40 100.00 0 NM_152393.3 KLHL41 100.00 0 NM_006063.2 KLHL9 100.00 0 NM_018847.3 KY 100.00 0 NM_178554.5 LAMA2 100.00 0 NM_000426.3 LAMB2 100.00 0 NM_002292.3 LAMP2 100.00 0 NM_002294.2 LARGE1 100.00 0 NM_004737.6 LDB3 100.00 0 NM_001080116.1 LIMS2 100.00 0 NM_001136037.2 LMOD3 100.00 0 NM_198271.4 MAP3K20 100.00 0 NM_016653.2 MB 100.00 0 NM_005368.2 MEGF10 100.00 0 NM_032446.2 MSTN 100.00 0 NM_005259.2 MTM1 100.00 0 NM_000252.2 MTMR14 100.00 0 NM_022485.4 MYH2 100.00 0 NM_017534.5 MYH8 100.00 0 NM_002472.2 MYMK 100.00 0 NM_001080483.2 MYOT 100.00 0 NM_006790.2 MED12 100.00 0 NM_015560.2 P4HA1 100.00 0 NM_001017962.2 PAX7 100.00 0 NM_002584.2 PDHA1 100.00 0 NM_000284.3 PFKM 100.00 0 NM_000289.5 PGK1 100.00 0 NM_000291.3 PGM1 100.00 0 NM_002633.2 POGLUT1 100.00 0 NM_152305.2 POLG 100.00 0 NM_002693.2 POLG2 100.00 0 NM_007215.3 POMGNT1 100.00 0 NM_017739.3 POMGNT2 100.00 0 NM_032806.5 POMK 100.00 0 NM_032237.4 POPDC3 100.00 0 NM_022361.4 PRKAG2 100.00 0 NM_016203.3 PYROXD1 100.00 0 NM_024854.4 RBCK1 100.00 0 NM_031229.3 RXYLT1 100.00 0 NM_014254.2 SBDS 100.00 0 NM_016038.3 SGCA 100.00 0 NM_000023.3 SGCD 100.00 0 NM_000337.5 SIL1 100.00 0 NM_022464.4 SLC18A3 100.00 0 NM_003055.2 SLC22A5 100.00 0 NM_003060.3 SLC25A20 100.00 0 NM_000387.5 SLC5A7 100.00 0 NM_021815.4 SNAP25 100.00 0 NM_130811.3 SQSTM1 100.00 0 NM_003900.4 STAC3 100.00 0 NM_145064.2 STIM1 100.00 0 NM_003156.3 WWTR1 100.00 0 NM_000116.4 TCAP 100.00 0 NM_003673.3 TMEM126B 100.00 0 NM_018480.5 TMEM43 100.00 0 NM_024334.2 TNNI2 100.00 0 NM_003282.3 TNNT3 100.00 0 NM_006757.3 TNPO3 100.00 0 NM_012470.3 TOR1AIP1 100.00 0 NM_001267578.1 TPM3 100.00 0 NM_152263.3 TRIM32 100.00 0 NM_012210.3 UNC45B 100.00 0 NM_173167.3 VAMP1 100.00 0 NM_014231.4 VMA21 100.00 0 NM_001017980.3 -
Neuromuscular disorders - UGent
Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments ABHD5 99.98 1 ACAD9 100.00 1 ACADL 99.11 1 ACADM 96.14 1 ACADS 99.99 1 ACADVL 100.00 1 ACTA1 99.99 1 ACTN2 99.99 1 ACVR1 99.94 1 ADCY6 99.98 1 ADGRG6 99.91 1 ADSS1 99.99 1 AGL 97.67 1 AGRN 99.99 1 ALDOA 100.00 1 ALG13 99.44 1 ALG14 99.34 1 ALG2 100.00 1 AMPD1 98.94 1 ANO5 99.85 1 APOO 99.69 1 ASAH1 99.90 1 ASCC1 90.99 1 ASPH 99.92 1 ATP2A1 99.83 1 B3GALNT2 92.79 1 B4GAT1 100.00 1 BAG3 100.00 1 BET1 99.38 1 BIN1 99.98 1 BSCL2 99.99 1 BVES 99.83 1 CACNA1H 100.00 1 CACNA1S 99.96 1 CAPN3 99.99 1 CASQ1 99.62 1 CAV3 100.00 1 CAVIN1 100.00 1 CCDC78 100.00 1 CFL2 99.67 1 CHAT 99.74 1 CHCHD10 100.00 1 CHKB 100.00 1 CHRNA1 99.82 1 CHRNB1 99.99 1 CHRND 100.00 1 CHRNE 100.00 1 CHRNG 100.00 1 CLCN1 100.00 1 CLN3 99.92 1 CLPP 99.99 1 CNTN1 99.35 1 COL12A1 99.85 1 COL13A1 99.95 1 COL4A1 99.99 1 COL6A1 99.99 1 COL6A2 100.00 1 COL6A3 99.99 1 COL9A3 99.99 1 COLQ 99.98 1 CPT2 99.65 1 CRPPA 99.98 1 CRYAB 100.00 1 DAG1 100.00 1 DES 100.00 1 DGUOK 99.93 1 DHX16 99.98 1 DMD 99.76 1 DMPK 99.93 1 DNAJB6 99.97 1 DNM2 99.99 1 DNMT3B 99.98 1 DOK7 99.97 1 DOLK 100.00 1 DPAGT1 100.00 1 DPM1 90.68 1 DPM2 100.00 1 DPM3 99.98 1 DYSF 99.95 1 ECEL1 100.00 1 EMD 99.93 1 ENO3 100.00 1 EPG5 99.95 1 ETFA 99.88 1 ETFB 100.00 1 ETFDH 99.82 1 FAM111B 99.98 1 FDX2 99.99 1 CFH 99.97 1 FKBP14 99.97 1 FKRP 100.00 1 FKTN 99.94 1 FLAD1 99.98 1 FLNC 99.99 1 FXR1 99.82 1 GAA 100.00 1 GBE1 99.73 1 GFER 100.00 1 GFPT1 99.79 1 GGPS1 99.95 1 GLDN 99.98 1 GLE1 99.99 1 GMPPB 100.00 1 GNE 99.99 1 GOLGA2 100.00 1 GOSR2 98.92 1 GYG1 99.85 1 GYS1 99.98 1 HACD1 99.98 1 HADHA 99.98 1 HADHB 99.82 1 HEXB 99.91 1 HNRNPA1 62.92 1 HNRNPA2B1 99.90 1 HNRNPDL 99.98 1 HRAS 100.00 1 HSPB1 99.97 1 HSPB3 99.97 1 HSPB8 100.00 1 HSPG2 99.87 1 HTRA2 99.99 1 INPP5K 99.94 1 ISCU 99.74 1 ITGA7 99.87 1 KBTBD13 100.00 1 KLHL40 99.96 1 KLHL41 99.96 1 KLHL9 100.00 1 KY 99.97 1 LAMA2 99.95 1 LAMA5 99.99 1 LAMB2 99.99 1 LAMP2 98.95 1 LARGE1 100.00 1 LARS2 99.96 1 LAS1L 99.97 1 LDB3 99.91 1 LDHA 99.94 1 LGI4 99.98 1 LIMS2 99.97 1 LMNA 99.96 1 LMOD3 99.91 1 LOXL4 99.92 1 LPIN1 99.96 1 LRIF1 99.82 1 CORIN 99.89 1 MAP3K20 99.84 1 MB 99.99 1 MCOLN1 100.00 1 MEGF10 99.91 1 MET 99.97 1 MICU1 99.56 1 MPDU1 99.97 1 MRPS25 99.97 1 MSTN 99.96 1 MSTO1 76.34 1 MTM1 99.76 1 MTMR14 99.99 1 MUSK 99.93 1 MYBPC1 99.77 1 MYBPC3 99.98 1 MYF5 99.99 1 MYH7B 99.98 1 MYH2 99.98 1 MYH3 99.99 1 MYH7 99.99 1 MYH8 100.00 1 MYL1 99.75 1 MYL2 99.99 1 MYMK 99.88 1 MYO18B 99.98 1 MYO9A 99.93 1 MYOT 99.93 1 MYPN 99.88 1 NEB 87.33 1 NEFL 100.00 1 ORAI1 99.63 1 PABPN1 99.99 1 PAX7 99.83 1 PEX6 99.99 1 PFKM 99.57 1 PGAM2 100.00 1 PGK1 99.93 1 PGM1 96.77 1 PHKA1 99.84 1 PHKB 99.69 1 PIEZO2 98.45 1 PLEC 100.00 1 PNPLA2 100.00 1 PNPLA8 99.92 1 POGLUT1 99.99 1 POLG 100.00 1 POLG2 99.51 1 POMGNT1 99.69 1 POMGNT2 100.00 1 POMK 100.00 1 POMT1 99.96 1 POMT2 99.98 1 POPDC3 99.96 1 PREPL 99.63 1 PRKAG2 99.96 1 PTRH2 99.99 1 PUS1 100.00 1 PYGM 99.96 1 PYROXD1 99.77 1 RAPSN 99.97 1 RBCK1 100.00 1 RRM2B 99.97 1 RXYLT1 99.48 1 RYR1 99.97 1 RYR3 99.98 1 SCN4A 99.98 1 SELENON 93.61 1 SGCA 100.00 1 SGCB 99.95 1 SGCD 100.00 1 SGCG 99.99 1 SIL1 99.95 1 SLC16A1 99.26 1 SLC18A3 99.99 1 SLC22A5 99.99 1 SLC25A1 99.93 1 SLC25A20 100.00 1 SLC25A4 100.00 1 SLC25A42 99.99 1 SLC5A7 99.57 1 SMCHD1 99.83 1 SMPX 99.80 1 SNAP25 99.89 1 SPEG 99.99 1 SPTBN4 99.91 1 SQSTM1 100.00 1 STAC3 99.91 1 STIM1 99.99 1 SUCLA2 99.96 1 SVIL 99.98 1 SYNE1 99.95 1 SYNE2 99.95 1 SYT2 99.93 1 TARDBP 100.00 1 TCAP 100.00 1 TFAM 99.24 1 TIA1 99.72 1 TIMM22 100.00 1 TK2 99.96 1 TMEM43 99.96 1 TMEM65 99.93 1 TNNC2 99.99 1 TNNI2 99.99 1 TNNT1 99.82 1 TNNT3 100.00 1 TNPO3 99.96 1 TNXB 90.86 1 TOR1AIP1 98.45 1 TPM2 100.00 1 TPM3 83.21 1 TRAPPC11 99.93 1 TRIM32 100.00 1 TRIM54 89.88 1 TRIP4 99.97 1 TSEN54 100.00 1 TSFM 100.00 1 TTN 99.15 1 TYMP 99.87 1 UNC45B 100.00 1 VAMP1 100.00 1 VCP 99.99 1 VMA21 99.90 1 VPS33B 99.95 1 YARS2 99.93 1 ZBTB42 100.00 1 ZC4H2 99.98 1 -
Neuropathy panel - UGent
Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments AARS1 99.99 1 ABCA1 99.92 1 ABHD12 99.98 1 AGTPBP1 99.68 1 AGXT 100.00 1 AHNAK2 97.58 1 AIFM1 99.92 1 AMACR 100.00 1 AP1S1 99.49 1 APOA1 100.00 1 APTX 99.92 1 AR 99.76 1 ARHGEF10 100.00 1 ARSA 99.99 1 ASAH1 99.90 1 ASCC1 90.99 1 ATAD3A 99.62 1 ATL1 99.95 1 ATL3 99.75 1 ATM 99.83 1 ATP1A1 98.41 1 ATP7A 99.87 1 B4GALNT1 99.97 1 BAG3 100.00 1 BCKDHB 99.73 1 BICD2 99.99 1 BSCL2 99.99 1 CFAP276 98.35 1 CCT5 99.99 1 CD59 100.00 1 CHCHD10 100.00 1 CNTNAP1 99.98 1 COA7 99.91 1 COX6A1 99.98 1 CPOX 99.99 1 CTDP1 99.97 1 CYP27A1 100.00 1 DARS2 98.31 1 DCAF8 99.83 1 DCTN1 99.98 1 DEGS1 99.99 1 DGAT2 99.99 1 DGUOK 99.93 1 DHTKD1 99.95 1 DNAJB2 99.97 1 DNAJC3 99.92 1 DNM2 99.99 1 DNMT1 99.13 1 DRP2 99.94 1 DST 99.52 1 DYNC1H1 99.99 1 EGR2 100.00 1 ELP1 99.96 1 ERCC6 99.60 1 ERCC8 99.79 1 ETFDH 99.82 1 EXOSC3 100.00 1 EXOSC8 99.91 1 EXOSC9 94.91 1 FANCA 99.98 1 HYCC1 99.81 1 FBLN5 100.00 1 FBXO38 99.96 1 FGD4 99.87 1 FIG4 99.83 1 FLVCR1 99.91 1 FXN 99.96 1 GALC 99.92 1 GAN 99.98 1 GARS1 99.93 1 GBA2 99.99 1 GBF1 99.97 1 GDAP1 99.98 1 GJB1 100.00 1 GJC2 100.00 1 GLA 99.90 1 GNB4 99.96 1 GNE 99.99 1 GSN 99.93 1 HADHA 99.98 1 HADHB 99.82 1 HARS1 99.96 1 HINT1 99.86 1 HK1 99.97 1 HMBS 99.97 1 HSPB1 99.97 1 HSPB3 99.97 1 HSPB8 100.00 1 IARS2 99.77 1 IGHMBP2 99.92 1 INF2 99.99 1 ITPR3 99.98 1 JAG1 100.00 1 KARS1 99.98 1 KCNA2 99.99 1 KIF1A 99.96 1 KIF1B 99.97 1 KIF26B 100.00 1 KIF5A 99.91 1 LITAF 83.22 1 LMNA 99.96 1 LRSAM1 99.99 1 LYST 99.87 1 MARS1 99.97 1 MCM3AP 99.98 1 MFN2 99.98 1 MICAL1 99.99 1 MMACHC 99.98 1 MME 97.17 1 MORC2 100.00 1 MPV17 99.98 1 MPZ 99.99 1 MTMR2 99.94 1 MTRFR 99.87 1 MTTP 99.92 1 MYH7B 99.98 1 NAGA 100.00 1 NAGLU 100.00 1 NDRG1 99.99 1 NEFH 100.00 1 NEFL 100.00 1 NGF 100.00 1 NMNAT2 99.79 1 NTRK1 99.86 1 MED12 99.95 1 OPA3 100.00 1 PDHA1 99.04 1 PDK3 99.49 1 PDYN 100.00 1 PEX10 100.00 1 PEX7 99.72 1 PHYH 100.00 1 PLEKHG5 99.99 1 PLP1 99.98 1 PMM2 99.93 1 PMP2 99.93 1 PMP22 100.00 1 PNKP 100.00 1 PNPLA6 99.99 1 POLG 100.00 1 POLG2 99.51 1 POLR3A 99.97 1 HCRT 99.85 1 PRDM12 100.00 1 PRKCG 99.99 1 PRPS1 99.95 1 PRUNE1 99.85 1 PRX 99.99 1 PTEN 99.89 1 PTPN11 99.98 1 PTRH2 99.99 1 RAB7A 100.00 1 RBM7 99.99 1 REEP1 99.97 1 RETREG1 99.99 1 SACS 99.97 1 SBF1 99.99 1 SBF2 99.77 1 SCARB2 99.99 1 SCN10A 99.99 1 SCN11A 99.94 1 SCN9A 99.83 1 SCO2 100.00 1 SCYL1 100.00 1 SEPTIN9 99.99 1 SETX 99.97 1 SGPL1 99.95 1 SH3TC2 100.00 1 SIGMAR1 99.99 1 SLC12A6 99.98 1 SLC25A19 99.99 1 SLC25A21 99.98 1 SLC25A46 99.88 1 SLC52A2 100.00 1 SLC52A3 99.94 1 SLC5A7 99.57 1 SMN1 7.60 1 SMN2 6.68 1 SORD 85.52 1 SOX10 100.00 1 SPAST 99.77 1 SPG11 99.89 1 SPG7 99.99 1 SPTAN1 99.96 1 SPTBN4 99.91 1 SPTLC1 99.74 1 SPTLC2 99.95 1 SUCLA2 99.96 1 SURF1 100.00 1 TFG 98.68 1 TRIM2 99.98 1 TRIP4 99.97 1 TRPA1 99.67 1 TRPV4 100.00 1 TTPA 99.88 1 TTR 100.00 1 TUBB3 100.00 1 TWNK 100.00 1 TYMP 99.87 1 UBA1 99.93 1 VAPB 100.00 1 VCP 99.99 1 VPS13A 99.68 1 VRK1 99.98 1 WARS1 99.97 1 WNK1 99.98 1 XK 99.98 1 XPA 99.68 1 XRCC1 99.96 1 YARS1 99.29 1 ZFYVE26 100.00 1