- Analytes
- COQ6
COQ6
Name: |
coenzyme Q6, monooxygenase
|
Symbol: |
COQ6
|
Version of Orphanet: |
2023-06-22 14:14:43
|
Synonyms: |
CGI-10
|
XREF(s): | |
Created: |
13 May 2019 - 01:01
|
Changed: |
22 Jun 2023 - 16:14
|
- Ataxia (autosomic dominant and recessive / except expansion of triplets) (gene panel - 722 genes)
- Early onset epileptic encephalopathy (gene panel - 845 genes)
- Epilepsy gene panel
- Inherited Kidney Diseases (Gene Panel)
- Intellectual disability (gene panel)
- Mitochondrial disorders (gene panel)
- Nephrogenetics / Nephropathy (gene panel)
- Nephropathies, hereditary (gene panel)
- Nephrotic syndrome, Focal Segmental Glomerulosclerosis (FSGS) , Alport syndrome and podocytopathy (gene panel)
-
Ataxia (348 genes) - ULB
Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments AAAS 100.00 0 No comment ABCB7 99.99 0 No comment ABCD1 97.56 0 No comment ABHD12 88.30 0 No comment ABHD5 99.85 0 No comment ACADVL 98.04 0 No comment ACO2 100.00 0 No comment COQ8A 99.92 0 No comment AFG3L2 94.80 0 No comment AHI1 100.00 0 No comment ALAS2 100.00 0 No comment ALDH18A1 100.00 0 No comment ALDH5A1 84.13 0 No comment ALG6 100.00 0 No comment ALS2 100.00 0 No comment AMACR 96.78 0 No comment AMPD2 99.90 0 No comment AMT 100.00 0 No comment ANO10 100.00 0 No comment AP1S2 100.00 0 No comment APTX 99.96 0 No comment ARL13B 99.98 0 No comment ARL6 100.00 0 No comment ARSA 100.00 0 No comment ARX 100.00 0 No comment ASPA 100.00 0 No comment ATCAY 100.00 0 No comment ATG5 100.00 0 No comment ATL1 99.89 0 No comment ATM 100.00 0 No comment ATP1A3 100.00 0 No comment ATP2B2 100.00 0 No comment ATP2B3 99.89 0 No comment ATP7B 100.00 0 No comment ATP8A2 99.91 0 No comment ATXN1 100.00 0 No comment ATXN10 98.19 0 No comment ATXN2 93.25 0 No comment ATXN3 99.47 0 No comment ATXN7 98.67 0 No comment B9D1 99.89 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 99.97 0 No comment BBS5 100.00 0 No comment BBS7 99.99 0 No comment BBS9 99.93 0 No comment BEAN1 100.00 0 No comment BIVM 100.00 0 No comment BSCL2 100.00 0 No comment BTD 100.00 0 No comment TWNK 100.00 0 No comment MTRFR 100.00 0 No comment C19ORF12 100.00 0 No comment CPLANE1 100.00 0 No comment CA8 100.00 0 No comment CACNA1A 99.53 0 No comment CACNA1G 99.97 0 No comment CACNB4 99.95 0 No comment CAMTA1 99.98 0 No comment CAPN1 99.97 0 No comment CASK 99.99 0 No comment CC2D2A 100.00 0 No comment CCDC88C 99.64 0 No comment CEP290 100.00 0 No comment CEP41 100.00 0 No comment CHMP1A 100.00 0 No comment CLCN2 100.00 0 No comment CLN5 98.80 0 No comment CLN6 90.40 0 No comment CLPP 97.95 0 No comment COA7 100.00 0 No comment COASY 100.00 0 No comment COG5 99.95 0 No comment COQ2 99.66 0 No comment COQ6 100.00 0 No comment COQ9 100.00 0 No comment COX20 95.39 0 No comment CP 100.00 0 No comment CRAT 99.29 0 No comment CSTB 98.75 0 No comment CWF19L1 100.00 0 No comment CYP27A1 99.38 0 No comment CYP2U1 93.20 0 No comment CYP7B1 95.41 0 No comment DARS1 100.00 0 No comment DARS2 100.00 0 No comment DDB2 100.00 0 No comment DDHD2 100.00 0 No comment DLAT 100.00 0 No comment DMXL2 100.00 0 No comment DNAJC19 99.65 0 No comment DNAJC3 99.99 0 No comment DNAJC5 100.00 0 No comment DNMT1 99.54 0 No comment EBF3 99.94 0 No comment EEF2 100.00 0 No comment EIF2B1 100.00 0 No comment EIF2B2 99.61 0 No comment EIF2B3 98.87 0 No comment EIF2B4 100.00 0 No comment EIF2B5 100.00 0 No comment ELOVL4 100.00 0 No comment ELOVL5 100.00 0 No comment EPM2A 97.21 0 No comment ERCC2 99.22 0 No comment ERCC3 100.00 0 No comment ERCC4 99.99 0 No comment ERCC5 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 FA2H 95.71 0 No comment FARS2 100.00 0 No comment FBXL4 100.00 0 No comment FDXR 100.00 0 No comment FGF14 100.00 0 No comment FLVCR1 100.00 0 No comment FMR1 99.99 0 No comment FOLR1 100.00 0 No comment FRMD7 99.98 0 No comment FXN 100.00 0 No comment GALC 98.98 0 No comment GBA1 100.00 0 No comment GBA2 100.00 0 No comment GBE1 100.00 0 No comment GCDH 100.00 0 No comment GCLC 99.98 0 No comment GCSH 73.97 0 No comment GFAP 100.00 0 No comment GJC2 96.72 0 No comment GLB1 100.00 0 No comment GLDC 97.39 0 No comment GLRX5 100.00 0 No comment GM2A 100.00 0 No comment GOSR2 100.00 0 No comment GPAA1 95.08 0 No comment GPR143 89.09 0 No comment ADGRG1 99.99 0 No comment GRID2 100.00 0 No comment GRM1 99.99 0 No comment GSS 100.00 0 No comment HARS2 100.00 0 No comment HEPACAM 99.85 0 No comment HERC1 100.00 0 No comment HEXA 100.00 0 No comment HEXB 99.19 0 No comment HIBCH 100.00 0 No comment HPRT1 92.71 0 No comment HTRA1 75.65 0 No comment IFRD1 98.86 0 No comment IGDCC3 95.07 0 No comment INPP5E 99.14 0 No comment IRF2BPL 97.56 0 No comment ITM2B 100.00 0 No comment ITPR1 99.99 0 No comment KCNA1 100.00 0 No comment KCNC3 76.20 0 No comment KCND3 100.00 0 No comment KCNJ10 100.00 0 No comment KCNJ6 100.00 0 No comment KCNMA1 99.93 0 No comment WASHC5 100.00 0 No comment RUBCN 96.60 0 No comment NEXMIF 100.00 0 No comment KIF1A 98.74 0 No comment KIF1C 100.00 0 No comment KIF5A 100.00 0 No comment KIF5C 100.00 0 No comment KIF7 99.64 0 No comment L2HGDH 99.75 0 No comment LAMA1 99.79 0 No comment LAMB1 100.00 0 No comment LARS2 100.00 0 No comment LMNB1 97.00 0 No comment LRPPRC 98.80 0 No comment LYST 100.00 0 No comment MFSD8 100.00 0 No comment MKKS 100.00 0 No comment MKS1 100.00 0 No comment MLC1 98.57 0 No comment MMACHC 100.00 0 No comment MME 100.00 0 No comment MRE11 99.05 0 No comment MSTO1 99.96 0 No comment MTFMT 97.83 0 No comment MTPAP 99.98 0 No comment MTRR 100.00 0 No comment MTTP 100.00 0 No comment MVK 100.00 0 No comment NANS 100.00 0 No comment NDUFAF6 95.61 0 No comment NDUFS1 100.00 0 No comment NDUFS2 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 NEFL 99.62 0 No comment NEU1 100.00 0 No comment NHLRC1 96.01 0 No comment NKX6-2 94.10 0 No comment NOL3 100.00 0 No comment NOP56 99.99 0 No comment NOTCH3 93.46 0 No comment NPC1 97.50 0 No comment NPC2 100.00 0 No comment NPHP1 100.00 0 No comment NUBPL 99.92 0 No comment OCLN 100.00 0 No comment OFD1 97.13 0 No comment MED12 99.98 0 No comment OPA3 100.00 0 No comment OPHN1 99.94 0 No comment OTUD4 100.00 0 No comment PAX6 100.00 0 No comment PDGFRB 99.98 0 No comment PDHX 100.00 0 No comment PDSS1 85.11 0 No comment PDSS2 100.00 0 No comment PDYN 100.00 0 No comment PEX10 87.10 0 No comment PEX16 99.97 0 No comment PEX2 100.00 0 No comment PEX7 95.60 0 No comment PHYH 99.81 0 No comment PIK3R5 100.00 0 No comment PLA2G6 100.00 0 No comment PLEKHG4 100.00 0 No comment PLP1 100.00 0 No comment PMM2 100.00 0 No comment PMPCA 100.00 0 No comment PNKD 99.93 0 No comment PNKP 99.84 0 No comment PNPLA6 99.95 0 No comment POLG 100.00 0 No comment POLH 100.00 0 No comment POLR3A 100.00 0 No comment POLR3B 100.00 0 No comment PPP2R2B 100.00 0 No comment PRICKLE1 100.00 0 No comment PRKCG 100.00 0 No comment PRNP 99.92 0 No comment PRPS1 99.91 0 No comment PRRT2 100.00 0 No comment PTEN 99.45 0 No comment PUM1 100.00 0 No comment RAB18 99.99 0 No comment RAB3A 100.00 0 No comment RAB3GAP1 100.00 0 No comment RARS2 100.00 0 No comment RELN 100.00 0 No comment RNASEH2A 100.00 0 No comment RNASEH2C 100.00 0 No comment RNF170 100.00 0 No comment RNF216 100.00 0 No comment RPGRIP1L 96.40 0 No comment RRM2B 100.00 0 No comment SACS 99.95 0 No comment SAMD9L 100.00 0 No comment SAMHD1 100.00 0 No comment SAR1B 100.00 0 No comment SCN8A 100.00 0 No comment SEC16A 99.98 0 No comment SEPSECS 99.57 0 No comment SERAC1 100.00 0 No comment SETX 100.00 0 No comment SIL1 99.95 0 No comment SKOR1 98.57 0 No comment SLC16A2 99.97 0 No comment SLC17A5 100.00 0 No comment SLC19A3 99.90 0 No comment SLC1A3 100.00 0 No comment SLC20A2 100.00 0 No comment SLC25A15 100.00 0 No comment SLC25A46 100.00 0 No comment SLC2A1 100.00 0 No comment SLC39A8 98.92 0 No comment SLC52A2 100.00 0 No comment SLC52A3 99.86 0 No comment SLC9A1 100.00 0 No comment SLC9A6 99.66 0 No comment SMPD1 100.00 0 No comment SNX14 99.98 0 No comment SPAST 99.83 0 No comment SPG11 100.00 0 No comment SPG7 95.78 0 No comment SPR 99.98 0 No comment SPTBN2 99.93 0 No comment SRD5A3 98.61 0 No comment STUB1 99.69 0 No comment SYNE1 100.00 0 No comment SYT14 92.28 0 No comment TANGO2 99.94 0 No comment TBC1D20 95.06 0 No comment TBCC 100.00 0 No comment TBP 100.00 0 No comment TCTN1 100.00 0 No comment TCTN2 100.00 0 No comment TCTN3 100.00 0 No comment TDP1 100.00 0 No comment TDP2 100.00 0 No comment TGM6 100.00 0 No comment TK2 100.00 0 No comment TMEM138 100.00 0 No comment TMEM216 99.87 0 No comment TMEM231 100.00 0 No comment TMEM237 99.85 0 No comment TMEM240 96.75 0 No comment TMEM67 99.95 0 No comment ACD 99.99 0 No comment TRIM32 100.00 0 No comment TRPC3 99.48 0 No comment TSEN2 100.00 0 No comment TSEN34 100.00 0 No comment TSEN54 91.60 0 No comment TSFM 100.00 0 No comment TTBK2 100.00 0 No comment TTC19 100.00 0 No comment TTC8 99.73 0 No comment TTPA 96.80 0 No comment TUBB4A 100.00 0 No comment TUBG1 100.00 0 No comment TYMP 100.00 0 No comment UBA5 100.00 0 No comment VAMP1 100.00 0 No comment VLDLR 96.00 0 No comment VPS13A 100.00 0 No comment VPS13B 100.00 0 No comment VPS13D 100.00 0 No comment VRK1 100.00 0 No comment VWA3B 100.00 0 No comment WDPCP 99.11 0 No comment WDR73 100.00 0 No comment WDR81 99.63 0 No comment WFS1 100.00 0 No comment WWOX 100.00 0 No comment XPA 98.10 0 No comment XPC 100.00 0 No comment XPR1 99.91 0 No comment XRCC1 99.95 0 No comment ZC4H2 100.00 0 No comment ZFYVE26 100.00 0 No comment ZNF423 100.00 0 No comment ZNF592 100.00 0 No comment -
Early onset epileptic encephalopathy (845 genes) - ULB
Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments AAAS 100.00 0 No comment AARS1 100.00 0 No comment AARS2 99.75 0 No comment AASS 100.00 0 No comment ABAT 100.00 0 No comment ABCB1 100.00 0 No comment ABCC8 100.00 0 No comment ABCD1 97.56 0 No comment ACADM 99.87 0 No comment ACADS 97.51 0 No comment ACADSB 100.00 0 No comment ACO2 100.00 0 No comment ACOX1 100.00 0 No comment ACSF3 99.86 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 COQ8A 99.92 0 No comment ADK 100.00 0 No comment ADRA2B 100.00 0 No comment ADSL 100.00 0 No comment AFG3L2 94.80 0 No comment AGA 100.00 0 No comment AGTR2 100.00 0 No comment AHI1 100.00 0 No comment AIFM1 99.98 0 No comment AIMP1 99.97 0 No comment AKT2 100.00 0 No comment AKT3 100.00 0 No comment ALDH18A1 100.00 0 No comment ALDH3A2 99.94 0 No comment ALDH4A1 96.50 0 No comment ALDH5A1 84.13 0 No comment ALDH7A1 100.00 0 No comment ALG1 78.28 0 No comment ALG11 100.00 0 No comment ALG12 100.00 0 No comment ALG13 99.53 0 No comment ALG2 99.83 0 No comment ALG3 93.20 0 No comment ALG6 100.00 0 No comment ALG8 100.00 0 No comment ALG9 98.18 0 No comment ALMS1 99.85 0 No comment AMACR 96.78 0 No comment AMER1 99.97 0 No comment AMT 100.00 0 No comment ANKH 100.00 0 No comment ANKRD11 100.00 0 No comment AP3B2 98.68 0 No comment AP4E1 99.99 0 No comment APTX 99.96 0 No comment AR 100.00 0 No comment ARFGEF2 100.00 0 No comment ARG1 100.00 0 No comment ARHGEF15 100.00 0 No comment ARHGEF9 99.92 0 No comment ARID1A 97.21 0 No comment ARID1B 98.17 0 No comment ARL13B 99.98 0 No comment ARSA 100.00 0 No comment SLURP1 87.81 0 No comment ARV1 100.00 0 No comment ARX 88.86 0 No comment ASAH1 100.00 0 No comment ASL 99.96 0 No comment ASNS 97.93 0 No comment ASPA 100.00 0 No comment ASPM 100.00 0 No comment ASS1 98.12 0 No comment ASXL1 99.93 0 No comment ATAD1 100.00 0 No comment ATIC 97.39 0 No comment ATN1 99.99 0 No comment ATP13A2 98.30 0 No comment ATP1A2 99.94 0 No comment ATP1A3 100.00 0 No comment ATP2A2 100.00 0 No comment ATP5F1A 99.63 0 No comment ATP6AP2 98.57 0 No comment ATP6V0A2 99.97 0 No comment ATP7A 100.00 0 No comment ATPAF2 100.00 0 No comment ANTXR1 99.97 0 No comment ATRX 99.89 0 No comment ATXN10 98.19 0 No comment ATXN2 93.25 0 No comment AUH 99.24 0 No comment AVPR2 99.37 0 No comment B3GALNT2 92.96 0 No comment B3GNT2 100.00 0 No comment B4GALT1 100.00 0 No comment BCAP31 99.81 0 No comment BCKDHA 99.90 0 No comment BCKDHB 100.00 0 No comment BCKDK 100.00 0 No comment BCS1L 100.00 0 No comment BOLA3 80.60 0 No comment BRAF 96.83 0 No comment BRAT1 99.93 0 No comment BRD2 94.60 0 No comment BSCL2 100.00 0 No comment BTD 100.00 0 No comment BUB1B 100.00 0 No comment TWNK 100.00 0 No comment C12ORF57 100.00 0 No comment MTRFR 100.00 0 No comment CPLANE1 100.00 0 No comment CACNA1A 99.53 0 No comment CACNA1D 99.81 0 No comment CACNA1G 99.97 0 No comment CACNA1H 98.10 0 No comment CACNA2D1 100.00 0 No comment CACNA2D2 95.58 0 No comment CACNB4 99.95 0 No comment CAD 100.00 0 No comment CARS2 98.73 0 No comment KNL1 97.89 0 No comment CASK 99.99 0 No comment CASQ2 99.96 0 No comment CASR 100.00 0 No comment CBL 100.00 0 No comment CBS 99.85 0 No comment CC2D2A 100.00 0 No comment CCBE1 99.32 0 No comment CCDC88C 99.64 0 No comment CCL2 100.00 0 No comment CCM2 99.47 0 No comment CDK5RAP2 100.00 0 No comment CDKL5 99.77 0 No comment CDON 100.00 0 No comment CELSR1 95.69 0 No comment CENPJ 100.00 0 No comment CEP135 99.96 0 No comment CEP152 100.00 0 No comment CEP164 99.89 0 No comment CEP290 100.00 0 No comment CEP41 100.00 0 No comment CEP63 100.00 0 No comment CERS1 87.45 0 No comment CHD2 100.00 0 No comment CHD8 100.00 0 No comment CHKB 99.75 0 No comment CHMP1A 100.00 0 No comment CHRNA2 99.99 0 No comment CHRNA4 94.66 0 No comment CHRNA7 97.02 0 No comment CHRNB2 99.44 0 No comment CIC 99.22 0 No comment CLCN1 100.00 0 No comment CLCN2 100.00 0 No comment CLCN4 100.00 0 No comment CLCNKA 99.99 0 No comment CLCNKB 99.96 0 No comment CLDN16 100.00 0 No comment CLIC2 99.96 0 No comment CLN3 100.00 0 No comment CLN5 98.80 0 No comment CLN6 100.00 0 No comment CLN8 100.00 0 No comment CLPP 97.95 0 No comment CNKSR2 99.82 0 No comment CNNM2 100.00 0 No comment CNTN2 100.00 0 No comment CNTNAP2 99.10 0 No comment COA5 100.00 0 No comment COG1 99.01 0 No comment COG4 100.00 0 No comment COG5 99.95 0 No comment COG6 100.00 0 No comment COG7 100.00 0 No comment COG8 99.96 0 No comment COL18A1 99.86 0 No comment COL4A1 98.48 0 No comment COL4A2 100.00 0 No comment COQ2 99.66 0 No comment COQ4 100.00 0 No comment COQ6 100.00 0 No comment COQ9 100.00 0 No comment COX10 100.00 0 No comment COX14 100.00 0 No comment COX15 99.99 0 No comment COX20 95.39 0 No comment COX6B1 100.00 0 No comment COX8A 100.00 0 No comment CYP2A6 100.00 0 No comment CYP21A2 100.00 0 No comment CPT1A 100.00 0 No comment CPT2 98.55 0 No comment CRH 99.37 0 No comment CRLF1 89.19 0 No comment CSNK1G1 100.00 0 No comment CSPP1 99.98 0 No comment CSTB 98.75 0 No comment CTC1 99.70 0 No comment CTSA 99.94 0 No comment CTSD 93.41 0 No comment CTSF 90.14 0 No comment CUL4B 99.51 0 No comment CYP27A1 99.38 0 No comment CYP27B1 99.05 0 No comment D2HGDH 99.95 0 No comment DARS2 100.00 0 No comment DBT 100.00 0 No comment DCHS1 99.86 0 No comment DCX 99.94 0 No comment DDC 100.00 0 No comment DDOST 100.00 0 No comment DDX3X 100.00 0 No comment DENND5A 99.04 0 No comment DEPDC5 100.00 0 No comment DHCR24 98.73 0 No comment DHCR7 99.97 0 No comment DHFR 91.86 0 No comment DIAPH1 99.95 0 No comment DLD 100.00 0 No comment DLGAP2 99.95 0 No comment DMD 99.96 0 No comment DNAJC5 100.00 0 No comment DNAJC6 99.98 0 No comment DNM1 93.52 0 No comment DNM1L 100.00 0 No comment DOCK6 99.15 0 No comment DOCK7 98.80 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 DPYD 100.00 0 No comment DPYS 99.47 0 No comment DYNC1H1 99.92 0 No comment DYRK1A 100.00 0 No comment EARS2 100.00 0 No comment ECM1 100.00 0 No comment EEF1A2 99.08 0 No comment EFHC1 100.00 0 No comment EFHC2 99.79 0 No comment EFTUD2 99.99 0 No comment EHMT1 97.78 0 No comment EIF2B1 100.00 0 No comment EIF2B2 99.61 0 No comment EIF2B3 98.87 0 No comment EIF2B4 100.00 0 No comment EIF2B5 100.00 0 No comment EIF2S3 100.00 0 No comment ELOVL4 100.00 0 No comment ELP4 100.00 0 No comment EML1 98.26 0 No comment EMX2 99.97 0 No comment EOMES 100.00 0 No comment EPG5 100.00 0 No comment EPM2A 97.21 0 No comment EPRS 100.00 0 No comment ERBB4 100.00 0 No comment ERLIN2 100.00 0 No comment ERMARD 100.00 0 No comment ETFA 100.00 0 No comment ETFB 100.00 0 No comment ETFDH 100.00 0 No comment ETHE1 97.84 0 No comment EXOC6B 99.94 0 No comment EXOSC3 100.00 0 No comment EZH2 100.00 0 No comment FA2H 95.71 0 No comment FADD 90.35 0 No comment HYCC1 100.00 0 No comment FARS2 100.00 0 No comment FASN 99.95 0 No comment FASTKD2 100.00 0 No comment FAT4 100.00 0 No comment FBXL4 100.00 0 No comment FGD1 99.24 0 No comment FGF12 99.90 0 No comment FGF8 94.19 0 No comment FGFR3 99.24 0 No comment FH 100.00 0 No comment FKRP 100.00 0 No comment FKTN 100.00 0 No comment FLNA 99.75 0 No comment FLVCR2 99.87 0 No comment FMR1 99.99 0 No comment FOLR1 100.00 0 No comment FOXG1 92.10 0 No comment FOXH1 100.00 0 No comment FOXRED1 100.00 0 No comment FRRS1L 82.37 0 No comment FTL 100.00 0 No comment FTO 100.00 0 No comment FUCA1 99.91 0 No comment GABBR2 96.91 0 No comment GABRA1 100.00 0 No comment GABRA3 99.59 0 No comment GABRB1 99.97 0 No comment GABRB2 100.00 0 No comment GABRB3 100.00 0 No comment GABRD 92.59 0 No comment GABRG2 91.70 0 No comment GAL 100.00 0 No comment GALC 98.98 0 No comment GALNS 94.36 0 No comment GAMT 97.00 0 No comment GATA3 100.00 0 No comment GATA6 87.61 0 No comment GATAD2B 100.00 0 No comment GATM 98.74 0 No comment GBA1 100.00 0 No comment GCDH 100.00 0 No comment GCH1 99.71 0 No comment GCK 99.13 0 No comment GCM2 100.00 0 No comment GCSH 73.97 0 No comment GFAP 100.00 0 No comment GFM1 100.00 0 No comment GJC2 96.72 0 No comment GLA 100.00 0 No comment GLB1 100.00 0 No comment GLDC 97.39 0 No comment GLI2 96.28 0 No comment GLI3 100.00 0 No comment GLRA1 100.00 0 No comment GLRB 100.00 0 No comment GLUD1 96.22 0 No comment GLUL 100.00 0 No comment GLYCTK 98.86 0 No comment GM2A 100.00 0 No comment GMPPB 100.00 0 No comment GNAO1 100.00 0 No comment GNB1 100.00 0 No comment GNE 100.00 0 No comment GNPTAB 99.91 0 No comment GNPTG 95.92 0 No comment GNS 100.00 0 No comment GOSR2 100.00 0 No comment GPC3 99.72 0 No comment GPHN 100.00 0 No comment ADGRG1 99.99 0 No comment ADGRV1 100.00 0 No comment GRIA3 99.99 0 No comment GRIN1 99.80 0 No comment GRIN2A 100.00 0 No comment GRIN2B 100.00 0 No comment GRIN2D 77.00 0 No comment GRINA 100.00 0 No comment GRN 100.00 0 No comment GSS 100.00 0 No comment GTPBP3 99.60 0 No comment GUF1 100.00 0 No comment GUSB 97.13 0 No comment HACE1 98.41 0 No comment HADH 100.00 0 No comment HAX1 100.00 0 No comment HCCS 100.00 0 No comment HCFC1 99.85 0 No comment HCN1 99.93 0 No comment HCN4 97.56 0 No comment HDAC4 99.86 0 No comment HDAC8 99.75 0 No comment HEPACAM 99.85 0 No comment HERC2 97.66 0 No comment HESX1 100.00 0 No comment HEXA 100.00 0 No comment HEXB 99.19 0 No comment HGSNAT 94.10 0 No comment HLCS 100.00 0 No comment HMBS 100.00 0 No comment HMGCL 100.00 0 No comment HNRNPH1 100.00 0 No comment HNRNPH2 100.00 0 No comment HNRNPU 99.82 0 No comment HPD 100.00 0 No comment HRAS 100.00 0 No comment HSD17B10 100.00 0 No comment HSD17B4 100.00 0 No comment HSPD1 95.18 0 No comment HTRA2 100.00 0 No comment HYAL1 100.00 0 No comment IDH2 93.11 0 No comment IDS 99.88 0 No comment IDUA 91.86 0 No comment IER3IP1 99.44 0 No comment ELP1 100.00 0 No comment INPP5E 99.14 0 No comment INS 97.76 0 No comment INSR 96.68 0 No comment IQSEC2 98.53 0 No comment CRPPA 95.50 0 No comment ITPA 100.00 0 No comment IVD 100.00 0 No comment JAM3 99.88 0 No comment JRK 100.00 0 No comment KANSL1 100.00 0 No comment KAT6B 100.00 0 No comment KCNA1 100.00 0 No comment KCNA2 100.00 0 No comment KCNAB1 100.00 0 No comment KCNB1 98.34 0 No comment KCNC1 100.00 0 No comment KCND2 100.00 0 No comment KCNH1 100.00 0 No comment KCNH2 98.15 0 No comment KCNH5 100.00 0 No comment KCNJ1 100.00 0 No comment KCNJ10 100.00 0 No comment KCNJ11 100.00 0 No comment KCNK18 100.00 0 No comment KCNMA1 99.93 0 No comment KCNQ2 99.92 0 No comment KCNQ3 98.20 0 No comment KCNT1 98.96 0 No comment KCNV2 100.00 0 No comment KCTD7 100.00 0 No comment KDM5C 99.97 0 No comment KDM6A 99.72 0 No comment RUBCN 96.60 0 No comment KIFBP 100.00 0 No comment NEXMIF 100.00 0 No comment KIF11 100.00 0 No comment KIF2A 99.97 0 No comment KIF4A 99.86 0 No comment KIF5C 100.00 0 No comment KIF7 99.64 0 No comment KMT2B 98.33 0 No comment KMT2D 99.98 0 No comment KPTN 100.00 0 No comment KRAS 100.00 0 No comment KRIT1 100.00 0 No comment L1CAM 99.98 0 No comment L2HGDH 99.75 0 No comment LAMA2 100.00 0 No comment LAMB1 100.00 0 No comment LAMC3 98.42 0 No comment LARGE1 100.00 0 No comment LBR 100.00 0 No comment LGI1 100.00 0 No comment LIAS 100.00 0 No comment LIG1 99.86 0 No comment LIG4 100.00 0 No comment LMBRD1 100.00 0 No comment LMNB2 95.84 0 No comment LRFN1 99.79 0 No comment LRFN2 100.00 0 No comment LRFN3 99.92 0 No comment LRFN4 98.83 0 No comment LRFN5 100.00 0 No comment LRP2 99.71 0 No comment LRPPRC 98.80 0 No comment MAGI2 94.89 0 No comment MAGT1 100.00 0 No comment MAN1B1 99.81 0 No comment MAP2K1 100.00 0 No comment MAP2K2 99.99 0 No comment MAPK10 100.00 0 No comment MBD5 100.00 0 No comment MBOAT7 99.93 0 No comment MBTPS2 100.00 0 No comment MCCC1 99.77 0 No comment MCOLN1 95.75 0 No comment MCPH1 99.70 0 No comment MDH2 94.63 0 No comment ME2 100.00 0 No comment MECP2 96.46 0 No comment MED12 99.98 0 No comment MED17 100.00 0 No comment MEF2C 100.00 0 No comment MFF 100.00 0 No comment MFSD8 100.00 0 No comment MGAT2 100.00 0 No comment MGME1 100.00 0 No comment MLC1 98.57 0 No comment MLYCD 96.09 0 No comment MMACHC 100.00 0 No comment MMADHC 100.00 0 No comment MOCS1 99.94 0 No comment MOCS2 100.00 0 No comment MOGS 98.86 0 No comment MPDU1 100.00 0 No comment MPDZ 100.00 0 No comment MPI 100.00 0 No comment MSX2 100.00 0 No comment MTHFR 100.00 0 No comment MTOR 100.00 0 No comment MTR 100.00 0 No comment MTRR 100.00 0 No comment MMUT 99.99 0 No comment MYO5A 99.67 0 No comment NAA10 96.95 0 No comment NACC1 100.00 0 No comment NAGA 100.00 0 No comment NAGLU 96.69 0 No comment NALCN 100.00 0 No comment NARS2 99.88 0 No comment NDE1 100.00 0 No comment NDP 100.00 0 No comment NDUFA1 100.00 0 No comment NDUFA10 96.45 0 No comment NDUFA11 80.54 0 No comment NDUFA12 100.00 0 No comment NDUFA2 100.00 0 No comment NDUFA9 100.00 0 No comment NDUFAF1 100.00 0 No comment NDUFAF2 100.00 0 No comment NDUFAF3 100.00 0 No comment NDUFAF4 99.26 0 No comment NDUFAF5 99.96 0 No comment NDUFAF6 95.61 0 No comment NDUFB3 98.57 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 NDUFS6 100.00 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 NECAP1 100.00 0 No comment NEDD4L 98.66 0 No comment NEU1 100.00 0 No comment NF1 98.78 0 No comment NFIX 94.60 0 No comment NGLY1 99.96 0 No comment NHEJ1 100.00 0 No comment NHLRC1 96.01 0 No comment NIN 100.00 0 No comment NIPA2 100.00 0 No comment NIPBL 99.48 0 No comment NLGN4X 100.00 0 No comment NLGN4Y 60.20 0 No comment NODAL 99.87 0 No comment NOTCH3 93.46 0 No comment NPC1 97.50 0 No comment NPC2 100.00 0 No comment NPHP1 100.00 0 No comment NPRL2 100.00 0 No comment NPRL3 100.00 0 No comment NRAS 100.00 0 No comment NRXN1 99.87 0 No comment NSD1 100.00 0 No comment NSDHL 100.00 0 No comment NUBPL 99.92 0 No comment OCLN 100.00 0 No comment OCRL 98.81 0 No comment OFD1 97.13 0 No comment OPHN1 99.94 0 No comment OTC 99.17 0 No comment OTX2 100.00 0 No comment PACS2 99.96 0 No comment PAFAH1B1 100.00 0 No comment PAH 100.00 0 No comment PAK3 98.75 0 No comment PANK2 100.00 0 No comment PAX6 100.00 0 No comment PODXL 100.00 0 No comment PCBD1 85.60 0 No comment PCCA 99.94 0 No comment PCCB 99.54 0 No comment PCDH19 98.99 0 No comment PCNT 99.88 0 No comment PDCD10 100.00 0 No comment PDE6D 100.00 0 No comment PDGFB 97.18 0 No comment PDGFRB 99.98 0 No comment PDHA1 92.64 0 No comment PDHX 100.00 0 No comment PDP1 100.00 0 No comment PDSS1 85.11 0 No comment PDSS2 100.00 0 No comment PET100 100.00 0 No comment PEX1 100.00 0 No comment PEX10 87.10 0 No comment PEX11B 100.00 0 No comment PEX12 100.00 0 No comment PEX13 100.00 0 No comment PEX14 99.31 0 No comment PEX16 99.97 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 99.74 0 No comment PEX7 95.60 0 No comment PGAP2 100.00 0 No comment PGAP3 98.48 0 No comment PGK1 99.88 0 No comment PGM1 100.00 0 No comment PHF6 100.00 0 No comment PHGDH 100.00 0 No comment PIGA 98.95 0 No comment PIGL 100.00 0 No comment PIGM 100.00 0 No comment PIGN 100.00 0 No comment PIGO 100.00 0 No comment PIGP 100.00 0 No comment PIGQ 100.00 0 No comment PIGT 100.00 0 No comment PIGV 100.00 0 No comment PIK3AP1 99.71 0 No comment PIK3CA 100.00 0 No comment PIK3R2 88.52 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 99.84 0 No comment PNPO 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 POMC 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 PPFIA1 100.00 0 No comment PPFIA2 100.00 0 No comment PPFIA3 96.20 0 No comment PPFIA4 100.00 0 No comment PPFIBP1 100.00 0 No comment PPFIBP2 100.00 0 No comment PPP2R2C 99.91 0 No comment PPT1 100.00 0 No comment PQBP1 99.91 0 No comment PRDM8 88.36 0 No comment PRF1 100.00 0 No comment PRICKLE1 100.00 0 No comment PRICKLE2 100.00 0 No comment PRODH 88.26 0 No comment PLPBP 99.89 0 No comment PRRT2 100.00 0 No comment PSAP 100.00 0 No comment PSAT1 99.61 0 No comment PSPH 100.00 0 No comment PTCH1 98.82 0 No comment PTEN 99.45 0 No comment PTH 100.00 0 No comment PTPN11 94.43 0 No comment PTS 99.91 0 No comment PURA 95.47 0 No comment QARS1 100.00 0 No comment QDPR 98.39 0 No comment RAB18 99.99 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 RAD21 100.00 0 No comment RAF1 100.00 0 No comment RAI1 93.59 0 No comment RANBP2 95.47 0 No comment RANGAP1 100.00 0 No comment RARS2 100.00 0 No comment RBBP8 99.97 0 No comment RBFOX1 98.87 0 No comment RBFOX3 98.41 0 No comment RELN 100.00 0 No comment RFT1 99.87 0 No comment RGMA 100.00 0 No comment RHOBTB2 100.00 0 No comment RNASEH2A 100.00 0 No comment RNASEH2B 94.58 0 No comment RNASEH2C 100.00 0 No comment RNASET2 100.00 0 No comment ROGDI 91.40 0 No comment RORB 100.00 0 No comment RPGRIP1L 96.40 0 No comment RPIA 99.96 0 No comment RRM2B 100.00 0 No comment RTTN 99.98 0 No comment RYR3 100.00 0 No comment SAMHD1 100.00 0 No comment SATB2 99.34 0 No comment SCARB2 99.99 0 No comment SCN10A 100.00 0 No comment SCN1A 100.00 0 No comment SCN1B 87.40 0 No comment SCN2A 100.00 0 No comment SCN2B 100.00 0 No comment SCN3A 100.00 0 No comment SCN3B 100.00 0 No comment SCN4A 100.00 0 No comment SCN4B 100.00 0 No comment SCN5A 100.00 0 No comment SCN8A 100.00 0 No comment SCN9A 99.99 0 No comment SCO2 93.85 0 No comment SDHA 95.31 0 No comment SDHAF1 90.31 0 No comment SEPSECS 99.57 0 No comment SERPINI1 100.00 0 No comment SETBP1 100.00 0 No comment SETD5 100.00 0 No comment SGSH 99.85 0 No comment SHANK3 90.31 0 No comment SHH 99.47 0 No comment SHOC2 100.00 0 No comment SHROOM4 99.98 0 No comment SIK1 100.00 0 No comment SIX3 99.61 0 No comment SLC12A5 99.86 0 No comment SLC12A6 100.00 0 No comment SLC13A5 100.00 0 No comment SLC16A1 100.00 0 No comment SLC16A2 99.97 0 No comment SLC17A5 100.00 0 No comment SLC19A3 99.90 0 No comment SLC1A2 100.00 0 No comment SLC1A3 100.00 0 No comment SLC20A2 100.00 0 No comment SLC25A1 98.83 0 No comment SLC25A12 100.00 0 No comment SLC25A15 100.00 0 No comment SLC25A19 100.00 0 No comment SLC25A20 100.00 0 No comment SLC25A22 100.00 0 No comment SLC2A1 100.00 0 No comment SLC2A2 99.95 0 No comment SLC35A1 100.00 0 No comment SLC35A2 100.00 0 No comment SLC35A3 100.00 0 No comment SLC35C1 100.00 0 No comment SLC3A2 90.78 0 No comment SLC46A1 99.98 0 No comment SLC4A10 99.99 0 No comment SLC6A1 100.00 0 No comment SLC6A19 99.98 0 No comment SLC6A5 100.00 0 No comment SLC6A8 99.41 0 No comment SLC6A9 100.00 0 No comment SLC9A6 99.66 0 No comment SLC9A9 100.00 0 No comment SMARCA1 98.12 0 No comment SMARCA2 98.99 0 No comment SMARCA4 100.00 0 No comment SMARCB1 100.00 0 No comment SMARCE1 98.46 0 No comment SMC1A 99.87 0 No comment SMC3 100.00 0 No comment SMPD1 100.00 0 No comment SNAP25 100.00 0 No comment SNAP29 100.00 0 No comment SNIP1 100.00 0 No comment SOS1 100.00 0 No comment SOX10 95.36 0 No comment SOX2 95.35 0 No comment SPRED1 100.00 0 No comment SPTAN1 100.00 0 No comment SRD5A3 98.61 0 No comment SRGAP3 100.00 0 No comment SRPX2 99.04 0 No comment ST3GAL3 100.00 0 No comment ST3GAL5 90.70 0 No comment STAMBP 100.00 0 No comment STIL 100.00 0 No comment STRADA 100.00 0 No comment STX1B 99.96 0 No comment STXBP1 100.00 0 No comment SUCLA2 99.86 0 No comment SUCLG1 93.27 0 No comment SUMF1 100.00 0 No comment SUOX 100.00 0 No comment SURF1 82.91 0 No comment SYN1 96.00 0 No comment SYNGAP1 99.76 0 No comment SYNJ1 99.72 0 No comment SYP 97.84 0 No comment SZT2 99.99 0 No comment TACO1 99.66 0 No comment TBC1D20 95.06 0 No comment TBC1D24 99.99 0 No comment TBCE 100.00 0 No comment TBL1XR1 100.00 0 No comment TBX1 83.55 0 No comment TCF4 100.00 0 No comment TCF7L2 100.00 0 No comment TCTN1 100.00 0 No comment TCTN2 100.00 0 No comment TCTN3 100.00 0 No comment TGIF1 100.00 0 No comment TK2 100.00 0 No comment TMEM138 100.00 0 No comment TMEM165 91.64 0 No comment TMEM216 99.87 0 No comment TMEM231 100.00 0 No comment TMEM237 99.85 0 No comment RXYLT1 100.00 0 No comment TMEM67 99.95 0 No comment TMEM70 100.00 0 No comment TNK2 99.86 0 No comment ACD 99.99 0 No comment TRAK1 100.00 0 No comment TREM2 100.00 0 No comment TREX1 100.00 0 No comment TRPM6 100.00 0 No comment TSC1 100.00 0 No comment TSC2 99.94 0 No comment TSEN2 100.00 0 No comment TSEN34 100.00 0 No comment TSEN54 91.60 0 No comment TTC21B 100.00 0 No comment TTN 100.00 0 No comment TTR 100.00 0 No comment TUBA1A 100.00 0 No comment TUBA8 99.98 0 No comment TUBB2A 100.00 0 No comment TUBB2B 100.00 0 No comment TUBB3 99.01 0 No comment TUBB4A 100.00 0 No comment TUBG1 100.00 0 No comment TUSC3 100.00 0 No comment TYROBP 100.00 0 No comment UBA5 100.00 0 No comment UBE2A 100.00 0 No comment UBE3A 100.00 0 No comment UBR5 100.00 0 No comment UPB1 100.00 0 No comment VANGL1 100.00 0 No comment VARS1 100.00 0 No comment VDAC1 95.12 0 No comment VLDLR 96.00 0 No comment VPS13A 100.00 0 No comment VPS13B 100.00 0 No comment VPS53 100.00 0 No comment VRK1 100.00 0 No comment WDR45 100.00 0 No comment WDR45B 99.94 0 No comment WDR62 100.00 0 No comment WFS1 100.00 0 No comment WWOX 100.00 0 No comment XK 99.44 0 No comment YWHAG 100.00 0 No comment ZBTB18 99.54 0 No comment ZC4H2 100.00 0 No comment ZDHHC9 100.00 0 No comment ZEB2 99.96 0 No comment ZIC2 95.66 0 No comment ZNF335 100.00 0 No comment ZNF423 100.00 0 No comment -
Epilepsy gene panel - VUB
Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments AAAS 100.00 0 No comment AARS1 100.00 0 No comment AASS 100.00 0 No comment ABAT 100.00 0 No comment ABCB1 100.00 0 No comment ABCC8 99.81 0 No comment ABCD1 99.93 0 No comment ACADM 99.94 0 No comment ACADS 99.48 0 No comment ACADSB 100.00 0 No comment ACO2 100.00 0 No comment ACOX1 100.00 0 No comment ACSF3 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 ADGRG1 100.00 0 No comment ADGRV1 100.00 0 No comment ADK 100.00 0 No comment ADRA2B 100.00 0 No comment ADSL 100.00 0 No comment AFG3L2 95.05 0 No comment AGA 100.00 0 No comment AGTR2 100.00 0 No comment AHI1 100.00 0 No comment AIFM1 100.00 0 No comment AIMP1 100.00 0 No comment AKT2 100.00 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 ALDH7A1 100.00 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 ALG8 95.91 0 No comment ALG9 98.65 0 No comment ALMS1 100.00 0 No comment AMACR 99.83 0 No comment AMER1 100.00 0 No comment AMT 99.94 0 No comment ANKH 100.00 0 No comment ANKRD11 100.00 0 No comment AP3B2 99.73 0 No comment AP4E1 100.00 0 No comment APTX 100.00 0 No comment AR 99.29 0 No comment ARFGEF2 100.00 0 No comment ARG1 100.00 0 No comment ARHGEF15 100.00 0 No comment ARHGEF9 100.00 0 No comment ARID1A 94.64 0 No comment ARID1B 92.99 0 No comment ARL13B 100.00 0 No comment ARSA 100.00 0 No comment SLURP1 85.73 0 No comment ARX 78.98 0 No comment ASAH1 99.94 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 ASXL1 99.91 0 No comment ATIC 99.06 0 No comment ATN1 100.00 0 No comment ATP1A2 100.00 0 No comment ATP1A3 100.00 0 No comment ATP2A2 100.00 0 No comment ATP5F1A 100.00 0 No comment ATP6AP2 99.95 0 No comment ATP6V0A2 100.00 0 No comment ATP7A 100.00 0 No comment ATPAF2 100.00 0 No comment ANTXR1 100.00 0 No comment ATRX 100.00 0 No comment ATXN10 99.48 0 No comment AUH 96.44 0 No comment AVPR2 100.00 0 No comment B3GALNT2 85.88 0 No comment B3GNT2 100.00 0 No comment B4GALT1 100.00 0 No comment B4GAT1 100.00 0 No comment BCAP31 100.00 0 No comment BCKDHA 100.00 0 No comment BCKDHB 100.00 0 No comment BCKDK 100.00 0 No comment BCS1L 100.00 0 No comment BOLA3 84.43 0 No comment BRAF 96.97 0 No comment BRAT1 100.00 0 No comment BRD2 95.47 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 CACNA1A 98.78 0 No comment CACNA1D 100.00 0 No comment CACNA1H 97.35 0 No comment CACNA2D1 100.00 0 No comment CACNA2D2 94.87 0 No comment CACNB4 100.00 0 No comment CAMK2B 99.93 0 No comment CASK 100.00 0 No comment CASQ2 100.00 0 No comment CASR 100.00 0 No comment CBL 100.00 0 No comment CBS 100.00 0 No comment CC2D2A 98.16 0 No comment CCBE1 99.97 0 No comment CCDC88C 99.92 0 No comment CCL2 100.00 0 No comment CCM2 99.98 0 No comment CDK5RAP2 100.00 0 No comment CDKL5 100.00 0 No comment CDON 100.00 0 No comment CELSR1 93.72 0 No comment CENPJ 100.00 0 No comment CEP135 100.00 0 No comment CEP152 100.00 0 No comment CEP164 100.00 0 No comment CEP290 99.99 0 No comment CEP41 100.00 0 No comment CEP63 95.17 0 No comment CERS1 77.89 0 No comment CHD2 100.00 0 No comment CHD8 100.00 0 No comment CHKB 99.69 0 No comment CHMP1A 100.00 0 No comment CHRNA2 100.00 0 No comment CHRNA4 97.18 0 No comment CHRNA7 97.88 0 No comment CHRNB2 99.92 0 No comment CLCN1 100.00 0 No comment CLCN2 100.00 0 No comment CLCN4 100.00 0 No comment CLCNKA 100.00 0 No comment CLCNKB 100.00 0 No comment CLDN16 100.00 0 No comment CLIC2 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 CLPP 100.00 0 No comment CNTN2 100.00 0 No comment CNTNAP2 99.85 0 No comment COA5 100.00 0 No comment COG1 99.24 0 No comment COG4 100.00 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 COL18A1 97.80 0 No comment COL4A1 98.71 0 No comment COL4A2 100.00 0 No comment COQ2 97.15 0 No comment COQ6 100.00 0 No comment COQ8A 100.00 0 No comment COQ9 99.99 0 No comment COX10 100.00 0 No comment COX14 100.00 0 No comment COX15 100.00 0 No comment COX20 98.72 0 No comment COX6B1 100.00 0 No comment CYP2A6 100.00 0 No comment CPLANE1 100.00 0 No comment CYP21A2 100.00 0 No comment CPT2 98.71 0 No comment CRH 100.00 0 No comment CRLF1 89.81 0 No comment CRPPA 95.75 0 No comment CSNK1G1 100.00 0 No comment CSPP1 100.00 0 No comment CSTB 99.03 0 No comment CTC1 100.00 0 No comment CTSA 100.00 0 No comment CTSD 99.45 0 No comment CTSF 87.32 0 No comment CUL4B 100.00 0 No comment CYP27A1 99.68 0 No comment CYP27B1 99.96 0 No comment D2HGDH 100.00 0 No comment DBT 100.00 0 No comment DCHS1 99.64 0 No comment DCX 100.00 0 No comment DDC 100.00 0 No comment DDOST 100.00 0 No comment DEPDC5 99.62 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 DLD 100.00 0 No comment DLGAP2 100.00 0 No comment DMD 100.00 0 No comment DNAJC5 100.00 0 No comment DNAJC6 100.00 0 No comment DNM1 94.44 0 No comment DOCK6 99.12 0 No comment DOCK7 99.17 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 DPYD 100.00 0 No comment DPYS 99.91 0 No comment DYNC1H1 100.00 0 No comment DYRK1A 100.00 0 No comment EARS2 100.00 0 No comment ECM1 100.00 0 No comment EEF1A2 99.76 0 No comment EFHC1 100.00 0 No comment EFHC2 100.00 0 No comment EFTUD2 100.00 0 No comment EHMT1 98.85 0 No comment EIF2B1 100.00 0 No comment EIF2B2 100.00 0 No comment EIF2B3 100.00 0 No comment EIF2B4 100.00 0 No comment EIF2B5 100.00 0 No comment ELOVL4 100.00 0 No comment ELP1 100.00 0 No comment ELP4 92.12 0 No comment EMX2 100.00 0 No comment EOMES 98.56 0 No comment EPG5 100.00 0 No comment EPM2A 85.54 0 No comment ERLIN2 100.00 0 No comment ERMARD 100.00 0 No comment ETFA 100.00 0 No comment ETFB 100.00 0 No comment ETFDH 100.00 0 No comment ETHE1 99.88 0 No comment EXOC6B 100.00 0 No comment EXOSC3 100.00 0 No comment EZH2 100.00 0 No comment FA2H 92.06 0 No comment FADD 92.08 0 No comment HYCC1 100.00 0 No comment FARS2 100.00 0 No comment FASTKD2 100.00 0 No comment FAT4 100.00 0 No comment FBXL4 100.00 0 No comment FGD1 99.39 0 No comment FGF8 94.82 0 No comment FGFR3 99.26 0 No comment FH 100.00 0 No comment FKRP 98.68 0 No comment FKTN 100.00 0 No comment FLNA 100.00 0 No comment FLVCR2 100.00 0 No comment FMR1 100.00 0 No comment FOLR1 100.00 0 No comment FOXG1 85.88 0 No comment FOXH1 100.00 0 No comment FTO 100.00 0 No comment FUCA1 100.00 0 No comment GABBR2 95.78 0 No comment GABRA1 100.00 0 No comment GABRB2 100.00 0 No comment GABRB3 99.79 0 No comment GABRD 94.04 0 No comment GABRG2 92.03 0 No comment GAL 100.00 0 No comment GALC 98.44 0 No comment GALNS 96.18 0 No comment GAMT 98.60 0 No comment GATA3 100.00 0 No comment GATA6 81.11 0 No comment GATM 99.26 0 No comment GBA1 100.00 0 No comment GCDH 100.00 0 No comment GCH1 96.30 0 No comment GCK 100.00 0 No comment GCM2 100.00 0 No comment GCSH 76.04 0 No comment GFAP 100.00 0 No comment GFM1 100.00 0 No comment GJC2 81.91 0 No comment GLA 100.00 0 No comment GLB1 100.00 0 No comment GLDC 96.53 0 No comment GLI2 95.11 0 No comment GLI3 100.00 0 No comment GLRA1 100.00 0 No comment GLRB 100.00 0 No comment GLUD1 99.45 0 No comment GLUL 100.00 0 No comment GLYCTK 100.00 0 No comment GM2A 100.00 0 No comment GMPPB 100.00 0 No comment GNAO1 100.00 0 No comment GNE 100.00 0 No comment GNPTAB 100.00 0 No comment GNPTG 94.69 0 No comment GNS 100.00 0 No comment GOSR2 100.00 0 No comment GPC3 100.00 0 No comment GPHN 100.00 0 No comment GRIA3 100.00 0 No comment GRIN1 99.97 0 No comment GRIN2A 100.00 0 No comment GRIN2B 100.00 0 No comment GRINA 100.00 0 No comment GRN 100.00 0 No comment GTPBP3 100.00 0 No comment GUSB 100.00 0 No comment HADH 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 HCN4 92.35 0 No comment HDAC4 100.00 0 No comment HDAC8 100.00 0 No comment HEPACAM 96.82 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 HGSNAT 93.95 0 No comment HLCS 100.00 0 No comment HMBS 100.00 0 No comment HNRNPU 99.54 0 No comment HPD 100.00 0 No comment HRAS 100.00 0 No comment HSD17B10 100.00 0 No comment HSD17B4 100.00 0 No comment HSPD1 99.53 0 No comment HYAL1 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 INPP5E 99.54 0 No comment INS 100.00 0 No comment INSR 97.31 0 No comment IQSEC2 99.73 0 No comment IVD 100.00 0 No comment JAM3 100.00 0 No comment JRK 100.00 0 No comment KANSL1 100.00 0 No comment KAT6A 100.00 0 No comment KAT6B 100.00 0 No comment KCNA1 100.00 0 No comment KCNA2 100.00 0 No comment KCNAB1 100.00 0 No comment KCNB1 99.89 0 No comment KCNC1 100.00 0 No comment KCND2 100.00 0 No comment KCNH1 100.00 0 No comment KCNH2 94.44 0 No comment KCNH5 100.00 0 No comment KCNJ1 100.00 0 No comment KCNJ10 100.00 0 No comment KCNJ11 100.00 0 No comment KCNK18 100.00 0 No comment KCNMA1 99.94 0 No comment KCNQ2 99.98 0 No comment KCNQ3 96.44 0 No comment KCNT1 99.74 0 No comment KCNV2 100.00 0 No comment KCTD7 97.35 0 No comment KDM5C 100.00 0 No comment KDM6A 100.00 0 No comment KIF11 100.00 0 No comment KIFBP 100.00 0 No comment KIF2A 98.88 0 No comment KIF4A 100.00 0 No comment KIF5C 100.00 0 No comment KIF7 96.94 0 No comment KMT2B 97.12 0 No comment KMT2D 100.00 0 No comment KNL1 98.62 0 No comment KPTN 100.00 0 No comment KRAS 100.00 0 No comment KRIT1 100.00 0 No comment L1CAM 100.00 0 No comment L2HGDH 99.96 0 No comment LAMA2 100.00 0 No comment LAMB1 100.00 0 No comment LAMC3 97.51 0 No comment LARGE1 100.00 0 No comment LBR 100.00 0 No comment LGI1 100.00 0 No comment LIAS 100.00 0 No comment LIG1 100.00 0 No comment LIG4 100.00 0 No comment LMBRD1 100.00 0 No comment LRFN1 100.00 0 No comment LRFN2 100.00 0 No comment LRFN3 99.97 0 No comment LRFN4 100.00 0 No comment LRFN5 100.00 0 No comment LRP2 99.96 0 No comment LRPPRC 99.14 0 No comment MAGI2 92.73 0 No comment MAGT1 100.00 0 No comment MAN1B1 99.99 0 No comment MAP2K1 100.00 0 No comment MAP2K2 99.98 0 No comment MAPK10 100.00 0 No comment MBD5 100.00 0 No comment MBTPS2 100.00 0 No comment MCCC1 100.00 0 No comment MCOLN1 97.27 0 No comment MCPH1 100.00 0 No comment ME2 100.00 0 No comment MECP2 98.28 0 No comment MED12 100.00 0 No comment MED17 100.00 0 No comment MEF2C 100.00 0 No comment MFSD8 100.00 0 No comment MGAT2 100.00 0 No comment MGME1 100.00 0 No comment MLC1 100.00 0 No comment MLYCD 85.50 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 MPI 100.00 0 No comment MSX2 100.00 0 No comment MTHFR 100.00 0 No comment MTOR 100.00 0 No comment MTR 100.00 0 No comment MTRR 100.00 0 No comment MYO5A 99.60 0 No comment NAA10 96.03 0 No comment NAGA 100.00 0 No comment NAGLU 87.38 0 No comment NALCN 100.00 0 No comment NDE1 100.00 0 No comment NDP 100.00 0 No comment NDUFA1 100.00 0 No comment NDUFA10 95.87 0 No comment NDUFA11 98.06 0 No comment NDUFA12 100.00 0 No comment NDUFA2 100.00 0 No comment NDUFA9 100.00 0 No comment NDUFAF1 100.00 0 No comment NDUFAF2 100.00 0 No comment NDUFAF3 100.00 0 No comment NDUFAF4 100.00 0 No comment NDUFAF5 100.00 0 No comment NDUFAF6 93.73 0 No comment NDUFB3 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 NDUFS6 100.00 0 No comment NDUFS7 99.49 0 No comment NDUFS8 100.00 0 No comment NDUFV1 100.00 0 No comment NDUFV2 100.00 0 No comment NECAP1 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 NFIX 97.15 0 No comment NGLY1 99.98 0 No comment NHEJ1 100.00 0 No comment NHLRC1 99.73 0 No comment NIN 100.00 0 No comment NIPA2 100.00 0 No comment NIPBL 99.98 0 No comment NLGN4X 100.00 0 No comment NLGN4Y 55.32 0 No comment NODAL 99.99 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 NPRL2 100.00 0 No comment NPRL3 100.00 0 No comment NRAS 100.00 0 No comment NRXN1 98.52 0 No comment NSD1 100.00 0 No comment NSDHL 100.00 0 No comment NTRK2 100.00 0 No comment NUBPL 100.00 0 No comment NUS1 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 OTC 100.00 0 No comment OTX2 100.00 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 PAX6 100.00 0 No comment PODXL 100.00 0 No comment PCBD1 92.74 0 No comment PCDH19 99.91 0 No comment PCNT 100.00 0 No comment PDCD10 100.00 0 No comment PDE6D 100.00 0 No comment PDGFB 99.77 0 No comment PDGFRB 100.00 0 No comment PDHA1 98.17 0 No comment PDHX 99.87 0 No comment PDP1 100.00 0 No comment PDSS1 86.24 0 No comment PDSS2 100.00 0 No comment PET100 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 PEX14 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 PGAP2 100.00 0 No comment PGAP3 99.90 0 No comment PGK1 100.00 0 No comment PGM1 100.00 0 No comment PHF6 100.00 0 No comment PHGDH 100.00 0 No comment PIGA 100.00 0 No comment PIGL 100.00 0 No comment PIGM 100.00 0 No comment PIGN 100.00 0 No comment PIGO 100.00 0 No comment PIGQ 100.00 0 No comment PIGV 100.00 0 No comment PIK3AP1 99.56 0 No comment PIK3CA 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 PNPO 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 POMC 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 PPFIA1 100.00 0 No comment PPFIA2 100.00 0 No comment PPFIA3 98.81 0 No comment PPFIA4 100.00 0 No comment PPFIBP1 100.00 0 No comment PPFIBP2 100.00 0 No comment PPP2R2C 100.00 0 No comment PPT1 100.00 0 No comment PQBP1 100.00 0 No comment PRF1 100.00 0 No comment PRICKLE1 100.00 0 No comment PRICKLE2 100.00 0 No comment PRODH 86.43 0 No comment PRRT2 100.00 0 No comment PSAP 100.00 0 No comment PSAT1 100.00 0 No comment PTCH1 98.48 0 No comment PTEN 98.86 0 No comment PTH 100.00 0 No comment PTPN11 98.80 0 No comment PTS 100.00 0 No comment PURA 85.32 0 No comment QARS1 100.00 0 No comment QDPR 99.04 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 RAD21 100.00 0 No comment RAF1 100.00 0 No comment RAI1 96.06 0 No comment RANGAP1 100.00 0 No comment RARS2 100.00 0 No comment RBBP8 100.00 0 No comment RBFOX1 99.94 0 No comment RBFOX3 99.96 0 No comment RELN 99.96 0 No comment RFT1 100.00 0 No comment RGMA 99.10 0 No comment RHOBTB2 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 ROGDI 91.80 0 No comment RORB 100.00 0 No comment RPGRIP1L 96.45 0 No comment RPIA 100.00 0 No comment RRM2B 100.00 0 No comment RTTN 100.00 0 No comment RUBCN 97.68 0 No comment RXYLT1 99.84 0 No comment RYR3 100.00 0 No comment SAMHD1 100.00 0 No comment SATB2 100.00 0 No comment SCARB2 100.00 0 No comment SCN10A 100.00 0 No comment SCN1A 100.00 0 No comment SCN1B 94.12 0 No comment SCN2A 100.00 0 No comment SCN2B 100.00 0 No comment SCN3A 100.00 0 No comment SCN3B 100.00 0 No comment SCN4A 100.00 0 No comment SCN4B 100.00 0 No comment SCN5A 100.00 0 No comment SCN8A 100.00 0 No comment SCN9A 100.00 0 No comment SCO2 100.00 0 No comment SDHA 98.02 0 No comment SDHAF1 96.03 0 No comment SEPSECS 99.97 0 No comment SERPINI1 100.00 0 No comment SETBP1 99.99 0 No comment SGSH 99.99 0 No comment SHANK3 83.99 0 No comment SHH 92.83 0 No comment SHOC2 100.00 0 No comment SHROOM4 100.00 0 No comment SIK1 100.00 0 No comment SIX3 99.59 0 No comment SLC12A5 100.00 0 No comment SLC12A6 100.00 0 No comment SLC13A5 100.00 0 No comment SLC16A1 100.00 0 No comment SLC16A2 100.00 0 No comment SLC17A5 100.00 0 No comment SLC19A3 100.00 0 No comment SLC1A3 100.00 0 No comment SLC20A2 100.00 0 No comment SLC25A1 93.77 0 No comment SLC25A12 100.00 0 No comment SLC25A15 100.00 0 No comment SLC25A19 100.00 0 No comment SLC25A20 100.00 0 No comment SLC25A22 100.00 0 No comment SLC2A1 99.94 0 No comment SLC2A2 100.00 0 No comment SLC35A1 100.00 0 No comment SLC35A2 100.00 0 No comment SLC35C1 100.00 0 No comment SLC3A2 88.97 0 No comment SLC46A1 99.95 0 No comment SLC4A10 100.00 0 No comment SLC6A1 100.00 0 No comment SLC6A5 100.00 0 No comment SLC6A8 98.78 0 No comment SLC9A6 99.96 0 No comment SLC9A9 100.00 0 No comment SMARCA1 99.59 0 No comment SMARCA2 98.07 0 No comment SMARCA4 100.00 0 No comment SMARCB1 100.00 0 No comment SMARCE1 100.00 0 No comment SMC1A 100.00 0 No comment SMC3 100.00 0 No comment SMPD1 100.00 0 No comment SNAP25 100.00 0 No comment SNAP29 100.00 0 No comment SNIP1 100.00 0 No comment SOS1 100.00 0 No comment SOX10 96.79 0 No comment SOX2 98.05 0 No comment SPRED1 100.00 0 No comment SPTAN1 100.00 0 No comment SRD5A3 99.42 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 STAMBP 100.00 0 No comment STIL 100.00 0 No comment STRADA 100.00 0 No comment STX1B 100.00 0 No comment STXBP1 100.00 0 No comment SUCLA2 100.00 0 No comment SUCLG1 95.74 0 No comment SUMF1 100.00 0 No comment SUOX 100.00 0 No comment SURF1 87.74 0 No comment SYN1 95.92 0 No comment SYNGAP1 100.00 0 No comment SYNJ1 99.96 0 No comment SYP 99.27 0 No comment SZT2 100.00 0 No comment TACO1 99.90 0 No comment TBC1D20 93.59 0 No comment TBC1D24 100.00 0 No comment TBCE 100.00 0 No comment TBX1 77.39 0 No comment TCF4 100.00 0 No comment TCTN1 93.78 0 No comment TCTN2 100.00 0 No comment TCTN3 100.00 0 No comment TGIF1 100.00 0 No comment TK2 95.90 0 No comment TMEM138 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 TNK2 100.00 0 No comment ACD 100.00 0 No comment TREM2 100.00 0 No comment TREX1 100.00 0 No comment TRPM6 100.00 0 No comment TSC1 100.00 0 No comment TSC2 100.00 0 No comment TSEN2 100.00 0 No comment TSEN34 100.00 0 No comment TSEN54 94.23 0 No comment TTC21B 100.00 0 No comment TTR 100.00 0 No comment TUBA1A 100.00 0 No comment TUBA8 100.00 0 No comment TUBB2A 99.99 0 No comment TUBB2B 100.00 0 No comment TUBB3 98.24 0 No comment TUBB4A 99.85 0 No comment TUBG1 100.00 0 No comment TUSC3 100.00 0 No comment TWNK 100.00 0 No comment TYROBP 100.00 0 No comment UBE2A 99.62 0 No comment UBE3A 100.00 0 No comment UBR5 100.00 0 No comment UPB1 100.00 0 No comment VANGL1 100.00 0 No comment VARS2 100.00 0 No comment VDAC1 99.21 0 No comment VLDLR 96.53 0 No comment VPS13A 100.00 0 No comment VPS13B 99.25 0 No comment VPS53 100.00 0 No comment VRK1 100.00 0 No comment WDR45 100.00 0 No comment WDR62 100.00 0 No comment WFS1 100.00 0 No comment WWOX 100.00 0 No comment XK 100.00 0 No comment ZBTB18 100.00 0 No comment ZC4H2 100.00 0 No comment ZDHHC9 100.00 0 No comment ZEB2 100.00 0 No comment ZIC2 80.54 0 No comment ZNF335 100.00 0 No comment -
Intellectual disability/Epilepsy (1091 genes) - ULG
Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments A2ML1 99.35 0 Vissers et al., EJHG 2015 : Noonan syndrome ABCC9 99.41 0 Hypertrichotic osteochondrodysplasia ABCD1 99.49 0 Adrenoleukodystrophy ABHD5 98.48 0 Chanarin-Dorfman syndrome ACAD9 99.57 0 Mitochondrial complex I deficiency due to ACAD9 deficiency ACO2 99.66 0 Infantile cerebellar-retinal degeneration ACOX1 99.49 0 Peroxisomal acyl-CoA oxidase deficiency ACSL4 91.09 0 Mental retardation, X-linked 63 ACTB 99.34 0 Baraitser-Winter syndrome 1 ACTG1 99.69 0 Baraitser-Winter syndrome 2 ACY1 99.67 0 Aminoacylase 1 deficiency ADAR 99.45 0 Aicardi-Goutieres syndrome 6 ADAT3 81.40 0 Mental retardation, autosomal recessive 36 ADGRG1 99.67 0 Polymicrogyria, bilateral frontoparietal ADK 98.74 0 Hypermethioninemia due to adenosine kinase deficiency ADNP 99.55 0 Helsmoortel-van der Aa syndrome ADSL 99.58 0 Adenylosuccinase deficiency AFF2 90.80 0 Mental retardation, X-linked, FRAXE type AGA 99.60 0 Aspartylglucosaminuria AGPAT2 91.26 0 Lipodystrophy, congenital generalized, type 1 AHCY 99.67 0 Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase AHDC1 99.68 0 Xia-Gibbs syndrome AHI1 99.05 0 Joubert syndrome 3 AIMP1 96.88 0 Leukodystrophy, hypomyelinating, 3 AKT3 98.82 0 Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2 ALDH18A1 99.66 0 Cutis laxa, autosomal recessive, type IIIA ALDH3A2 99.31 0 Sjogren-Larsson syndrome ALDH4A1 96.44 0 Hyperprolinemia, type II ALDH5A1 93.04 0 Succinic semialdehyde dehydrogenase deficiency ALDH7A1 99.00 0 Epilepsy, pyridoxine-dependent ALG1 99.43 0 Congenital disorder of glycosylation, type Ik ALG11 99.57 0 Congenital disorder of glycosylation, type Ip ALG12 99.69 0 Congenital disorder of glycosylation, type Ig ALG13 92.88 0 Epileptic encephalopathy, early infantile, 36 ALG2 97.14 0 Myasthenic syndrome, congenital, 14, with tubular aggregates ALG3 99.59 0 Congenital disorder of glycosylation, type Id ALG6 98.36 0 Congenital disorder of glycosylation, type Ic ALG9 96.33 0 Gillessen-Kaesbach-Nishimura syndrome ALMS1 98.27 0 Alstrom syndrome ALX1 99.52 0 Frontonasal dysplasia 3 ALX4 99.07 0 Frontonasal dysplasia 2 AMER1 99.96 0 Osteopathia striata with cranial sclerosis AMPD2 99.69 0 Pontocerebellar hypoplasia, type 9 AMT 99.69 0 Glycine encephalopathy ANK3 99.47 0 Mental retardation, autosomal recessive, 37 ANKH 99.64 0 Craniometaphyseal dysplasia ANKRD11 99.68 0 KBG syndrome AP1S1 99.50 0 MEDNIK syndrome AP1S2 88.78 0 Mental retardation, X-linked syndromic 5 AP4B1 99.61 0 Spastic paraplegia 47, autosomal recessive AP4M1 99.68 0 Spastic paraplegia 50, autosomal recessive AP4S1 99.48 0 Spastic paraplegia 52, autosomal recessive APTX 99.02 0 Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia ARCN1 99.27 0 Short stature, rhizomelic, with microcephaly, micrognathia, and developmental delay ARFGEF2 99.31 0 Periventricular heterotopia with microcephaly ARG1 99.53 0 Argininemia ARHGAP31 99.60 0 Adams-Oliver syndrome 1 ARHGEF2 99.64 0 Neurodevelopmental disorder with midbrain and hindbrain malformations ARHGEF9 97.26 0 Epileptic encephalopathy, early infantile, 8 ARID1A 97.02 0 Coffin-Siris syndrome 2 ARID1B 97.57 0 Coffin-Siris syndrome 1 ARID2 99.33 0 Coffis-Siris syndrome 6 ARL13B 98.36 0 Joubert syndrome 8 ARL6 99.09 0 Bardet-Biedl syndrome 3 ARSL 90.38 0 Chondrodysplasia punctata, X-linked recessive ARX 65.25 0 Mental retardation, X-linked 29 and others ASH1L 99.53 0 Okamoto et al., AJMG 2017 : MCA/ID syndrome ASNS 99.42 0 Asparagine synthetase deficiency ASPA 99.17 0 Canavan disease ASPM 98.50 0 Microcephaly 5, primary, autosomal recessive ASXL1 95.03 0 Bohring-Opitz syndrome ASXL3 98.20 0 Bainbridge-Ropers syndrome ATIC 96.73 0 AICA-ribosiduria due to ATIC deficiency ATP6V0A2 99.12 0 Cutis laxa, autosomal recessive, type IIA ATP7A 94.32 0 Menkes disease ATR 99.17 0 Seckel syndrome 1 ATRIP 95.19 0 Ogi et al., PLoS Genet 2012 : Seckel syndrome ATRX 92.10 0 Mental retardation-hypotonic facies syndrome, X-linked AUH 96.75 0 3-methylglutaconic aciduria, type I AUTS2 97.55 0 Mental retardation, autosomal dominant 26 B3GLCT 92.21 0 Peters-plus syndrome B4GALT1 98.41 0 Congenital disorder of glycosylation, type IId B4GALT7 83.36 0 Ehlers-Danlos syndrome with short stature and limb anomalies BBIP1 99.64 0 Bardet-Biedl syndrome 18 BBS1 99.66 0 Bardet-Biedl syndrome 1 BBS10 99.57 0 Bardet-Biedl syndrome 10 BBS12 99.52 0 Bardet-Biedl syndrome 12 BBS2 99.32 0 Bardet-Biedl syndrome 2 BBS4 99.49 0 Bardet-Biedl syndrome 4 BBS5 98.49 0 Bardet-Biedl syndrome 5 BBS7 99.00 0 Bardet-Biedl syndrome 7 BBS9 98.68 0 Bardet-Biedl syndrome 9 BCKDHB 98.82 0 Maple syrup urine disease, type Ib BCL11A 99.16 0 Dias-Logan syndrome BCOR 96.85 0 Microphthalmia, syndromic 2 BCS1L 99.69 0 Leigh syndrome BLM 99.07 0 Bloom syndrome BRAF 94.78 0 Noonan syndrome 7 BRPF1 99.67 0 Intellectual developmental disorder with dysmorphic facies and ptosis BRWD3 93.74 0 Mental retardation, X-linked 93 BSCL2 99.67 0 Encephalopathy, progressive, with or without lipodystrophy BTD 99.68 0 Biotinidase deficiency BUB1B 99.40 0 Mosaic variegated aneuploidy syndrome 1 C12ORF57 99.69 0 Platzer et al., AJMG 2014 : RM, hypoplasie corps caleux, colobome, épilepsie. C19ORF12 99.69 0 Neurodegeneration with brain iron accumulation 4 C2CD3 99.44 0 Orofaciodigital syndrome XIV CPLANE1 98.89 0 Joubert syndrome 17 CA8 99.19 0 Cerebellar ataxia and mental retardation with or without quadrupedal locomotion 3 CACNA1A 99.12 0 Epileptic encephalopathy, early infantile, 42 CACNA1C 99.65 0 Timothy syndrome CACNA1D 99.50 0 Primary aldosteronism, seizures, and neurologic abnormalities CAMK2A 99.67 0 Mental retardation, autosomal dominant 53 CAMK2B 96.34 0 Mental retardation, autosomal dominant 54 CANT1 99.60 0 Desbuquois dysplasia 1 CASK 95.36 0 Mental retardation and microcephaly with pontine and cerebellar hypoplasia CAV1 99.67 0 Partial lipodystrophy, congenital cataracts, and neurodegeneration syndrome CAVIN1 99.31 0 Lipodystrophy, congenital generalized, type 4 CBL 99.54 0 Noonan syndrome-like disorder with or without juvenile myelomonocytic leukemia CBS 99.69 0 Homocystinuria, B6-responsive and nonresponsive types CC2D1A 99.64 0 Mental retardation, autosomal recessive 3 CC2D2A 99.11 0 Joubert syndrome 9 CCDC22 99.91 0 Ritscher-Schinzel syndrome 2 CCDC39 98.07 0 Ciliary dyskinesia, primary, 14 CCDC78 99.69 0 Myopathy, centronuclear, 4 CCDC88C 99.38 0 Hydrocephalus, nonsyndromic, autosomal recessive CD96 99.13 0 C syndrome CDC45 99.57 0 Meier-Gorlin syndrome 7 CDC6 99.32 0 Meier-Gorlin syndrome 5 CDH15 96.19 0 Mental retardation, autosomal dominant 3 CDK13 95.39 0 Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder CDK5RAP2 99.45 0 Microcephaly 3, primary, autosomal recessive CDKL5 87.62 0 Epileptic encephalopathy, early infantile, 2 CDON 98.90 0 Holoprosencephaly 11 CDT1 89.72 0 Meier-Gorlin syndrome 4 CENPJ 99.19 0 Microcephaly 6, primary, autosomal recessive CEP135 97.81 0 Microcephaly 8, primary, autosomal recessive CEP152 98.40 0 Microcephaly 9, primary, autosomal recessive CEP290 97.64 0 Joubert syndrome 5 CEP41 99.07 0 Joubert syndrome 15 CEP57 99.09 0 Mosaic variegated aneuploidy syndrome 2 CEP63 99.06 0 Seckel syndrome 6 CHAMP1 99.63 0 Mental retardation, autosomal dominant 40 CHAT 97.70 0 Myasthenic syndrome, congenital, 6, presynaptic CHD2 99.18 0 Epileptic encephalopathy, childhood-onset CHD4 99.65 0 Sifrim-Hitz-Weiss syndrome CHD7 99.53 0 CHARGE syndrome CHD8 99.58 0 Autism, susceptibility to, 18 CHKB 97.97 0 Muscular dystrophy, congenital, megaconial type CHMP1A 99.59 0 Pontocerebellar hypoplasia, type 8 CHRNA4 90.96 0 Epilepsy, nocturnal frontal lobe, 1 CHRND 99.68 0 Myasthenic syndrome, congenital, 3B, fast-channel CISD2 98.61 0 Wolfram syndrome 2 CLCN4 99.27 0 Mental retardation, X-linked 49/15 CLN3 99.69 0 Ceroid lipofuscinosis, neuronal, 3 CLN5 97.69 0 Ceroid lipofuscinosis, neuronal, 5 CLN6 85.06 0 Ceroid lipofuscinosis, neuronal, 6 CLN8 99.69 0 Ceroid lipofuscinosis, neuronal, 8 CLP1 99.68 0 Pontocerebellar hypoplasia, type 10 CLPB 99.62 0 3-methylglutaconic aciduria, type VII, with cataracts, neurologic involvement and neutropenia CNKSR2 91.50 0 Houge et al., Mol Syndromol 2012 : ID CNTNAP2 99.39 0 Pitt-Hopkins like syndrome 1 COASY 99.68 0 Neurodegeneration with brain iron accumulation 6 COG1 98.34 0 Congenital disorder of glycosylation, type IIg COG5 99.11 0 Congenital disorder of glycosylation, type IIi COG6 98.39 0 Congenital disorder of glycosylation, type IIl COG7 99.66 0 Congenital disorder of glycosylation, type IIe COG8 97.38 0 Congenital disorder of glycosylation, type IIh COL4A1 97.86 0 Porencephaly 1 COL4A2 99.62 0 Porencephaly 2 CERT1 99.15 0 Mental retardation, autosomal dominant 34 COLEC10 99.16 0 Mental retardation, autosomal dominant 34 COLEC11 99.67 0 3MC syndrome 2 COQ2 94.52 0 Coenzyme Q10 deficiency, primary, 1 COQ4 98.74 0 Coenzyme Q10 deficiency, primary, 7 COQ6 99.60 0 Coenzyme Q10 deficiency, primary, 6 COQ7 99.40 0 Coenzyme Q10 deficiency, primary, 8 COQ8A 99.69 0 Coenzyme Q10 deficiency, primary, 4 COQ9 98.23 0 Coenzyme Q10 deficiency, primary, 5 COX10 99.65 0 Leigh syndrome due to mitochondrial COX4 deficiency CRADD 99.63 0 Mental retardation, autosomal recessive 34, with variant lissencephaly CRBN 98.86 0 Mental retardation, autosomal recessive 2 CREBBP 99.62 0 Rubinstein-Taybi syndrome 1 CSNK2A1 99.32 0 Okur-Chung neurodevelopmental syndrome CSPP1 98.95 0 Joubert syndrome 21 CTC1 99.57 0 Cerebroretinal microangiopathy with calcifications and cysts CTCF 99.65 0 Mental retardation, autosomal dominant 21 CTNNB1 99.65 0 Mental retardation, autosomal dominant 19 CTSA 99.59 0 Galactosialidosis CTSD 94.51 0 Ceroid lipofuscinosis, neuronal, 10 CUL4B 84.65 0 Mental retardation, X-linked, syndromic 15 (Cabezas type) CYB5R3 88.44 0 Methemoglobinemia, type I CYP27A1 97.94 0 Cerebrotendinous xanthomatosis D2HGDH 98.50 0 D-2-hydroxyglutaric aciduria DAG1 99.69 0 Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 9 DARS2 99.20 0 Leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation DCAF17 93.81 0 Woodhouse-Sakati syndrome DCC 99.55 0 Mirror movements 1 and/or agenesis of the corpus callosum DCPS 99.69 0 Al-Raqad syndrome DCX 96.94 0 Lissencephaly, X-linked DDB2 99.69 0 Xeroderma pigmentosum, group E, DDB-negative subtype DDHD2 97.74 0 Spastic paraplegia 54, autosomal recessive DDX11 99.66 0 Warsaw breakage syndrome DDX3X 96.52 0 Mental retardation, X-linked 102 DEAF1 92.63 0 Mental retardation, autosomal dominant 24 DHCR24 99.34 0 Desmosterolosis DHCR7 99.68 0 Smith-Lemli-Opitz syndrome DHFR 98.50 0 Megaloblastic anemia due to dihydrofolate reductase deficiency DHX30 99.51 0 Lessel et al., AJHG 2017 : global developmental delay (GDD), intellectual disability (ID), severe speech impairment and gait abnormalities. DIAPH1 95.85 0 Seizures, cortical blindness, microcephaly syndrome DKC1 91.60 0 Dyskeratosis congenita, X-linked DLD 99.08 0 Dihydrolipoamide dehydrogenase deficiency DLG3 98.91 0 Mental retardation, X-linked 90 DLL4 99.61 0 Adams-Oliver syndrome 6 DNAJC19 97.60 0 3-methylglutaconic aciduria, type V DNM1 96.84 0 Epileptic encephalopathy, early infantile, 31 DNMT3A 99.69 0 Tatton-Brown-Rahman syndrome DNMT3B 99.69 0 Immunodeficiency-centromeric instability-facial anomalies syndrome 1 DOCK6 97.92 0 Adams-Oliver syndrome 2 DOCK8 99.24 0 Hyper-IgE recurrent infection syndrome, autosomal recessive DPAGT1 99.68 0 Congenital disorder of glycosylation, type Ij DPH1 99.67 0 Developmental delay with short stature, dysmorphic features, and sparse hair DPM1 99.27 0 Congenital disorder of glycosylation, type Ie DPP6 99.57 0 Mental retardation, autosomal dominant 33 DSCAM 99.29 0 Wang et al., Nat Commun 2016 : Autisme DYNC1H1 99.50 0 Mental retardation, autosomal dominant 13 DYRK1A 99.53 0 Mental retardation, autosomal dominant 7 EARS2 99.64 0 Combined oxidative phosphorylation deficiency 12 EBF3 98.59 0 Hypotonia, ataxia, and delayed development syndrome EBP 99.89 0 MEND syndrome ECHS1 98.49 0 Mitochondrial short-chain enoyl-CoA hydratase 1 deficiency EDC3 99.68 0 Mental retardation, autosomal recessive 50 EEF1A2 88.74 0 Mental retardation, autosomal dominant 38 EFNB1 99.39 0 Craniofrontonasal dysplasia EFTUD2 99.44 0 Mandibulofacial dysostosis, Guion-Almeida type EHMT1 95.40 0 Kleefstra syndrome EIF2AK3 94.12 0 Wolcott-Rallison syndrome EIF2S3 97.88 0 Mental retardation, X-linked, syndromic, Borck type ELOVL4 99.45 0 Ichthyosis, spastic quadriplegia, and mental retardation ELP2 98.99 0 Mental retardation, autosomal recessive 58 EML1 96.28 0 Band heterotopia EMX2 99.48 0 Schizencephaly ENTPD1 99.05 0 Spastic paraplegia 64, autosomal recessive EOGT 99.33 0 Adams-Oliver syndrome 4 EP300 99.56 0 Rubinstein-Taybi syndrome 2 EPB41L1 99.69 0 Mental retardation, autosomal dominant 11 EPG5 99.47 0 Vici syndrome ERCC2 99.67 0 Cerebrooculofacioskeletal syndrome 2 ERCC3 99.68 0 Xeroderma pigmentosum, group B ERCC4 99.35 0 Xeroderma pigmentosum, type F/Cockayne syndrome ERCC5 99.48 0 Xeroderma pigmentosum, group G/Cockayne syndrome ERCC6 99.07 0 Cerebrooculofacioskeletal syndrome 1 ERCC8 99.27 0 Cockayne syndrome, type A ERLIN2 99.32 0 Spastic paraplegia 18, autosomal recessive ESCO2 98.50 0 Roberts syndrome ETHE1 99.60 0 Ethylmalonic encephalopathy EXOSC3 99.53 0 Pontocerebellar hypoplasia, type 1B EZH2 99.41 0 Weaver syndrome EZR 99.63 0 Riecken et al., Hum Mut 2015 : ID HYCC1 98.81 0 Leukodystrophy, hypomyelinating, 5 FARS2 99.56 0 Combined oxidative phosphorylation deficiency 14 FAT4 99.39 0 Van Maldergem syndrome 2 FBXL4 99.46 0 Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type) FBXO31 93.34 0 Mental retardation, autosomal recessive 45 FGD1 98.23 0 Mental retardation, X-linked syndromic 16 FGFR1 99.69 0 Hypogonadotropic hypogonadism 2 with or without anosmia FGFR2 99.67 0 Saethre-Chotzen syndrome FGFR3 95.86 0 Crouzon syndrome with acanthosis nigricans FH 99.29 0 Fumarase deficiency FKRP 85.03 0 Muscular dystrophy-dystroglycanopathy (congenital with or without mental retardation), type B, 5 FKTN 99.13 0 Muscular dystrophy-dystroglycanopathy (congenital without mental retardation), type B, 4 FLNA 99.73 0 Heterotopia, periventricular FMN2 99.05 0 Mental retardation, autosomal recessive 47 FMR1 94.48 0 Fragile X tremor/ataxia syndrome FOLR1 99.69 0 Neurodegeneration due to cerebral folate transport deficiency FOXG1 84.20 0 Rett syndrome, congenital variant FOXP1 99.55 0 Mental retardation with language impairment and with or without autistic features FOXP2 99.34 0 Speech-language disorder-1 FOXRED1 99.63 0 Leigh syndrome due to mitochondrial complex I deficiency FRAS1 99.57 0 Fraser syndrome 1 FREM2 99.23 0 Fraser syndrome 2 FRMPD4 96.56 0 Mental retardation, X-linked 104 FTCD 95.82 0 Glutamate formiminotransferase deficiency FTL 99.55 0 Neurodegeneration with brain iron accumulation 3 FTO 99.47 0 Growth retardation, developmental delay, facial dysmorphism FTSJ1 99.69 0 Mental retardation, X-linked 9/44 FUCA1 98.18 0 Fucosidosis GABRA3 87.08 0 Niturad et al., Brain 2017 : range of epileptic seizure types, a varying degree of intellectual disability and developmental delay, sometimes with dysmorphic features or nystagmus. GABRB3 94.66 0 Epileptic encephalopathy, early infantile, 43 GABRG2 99.57 0 Epilepsy, generalized, with febrile seizures plus, type 3 GALT 99.68 0 Galactosemia GAMT 93.42 0 Cerebral creatine deficiency syndrome 2 GAN 98.90 0 Giant axonal neuropathy-1 GATAD2B 99.69 0 Mental retardation, autosomal dominant 18 GATM 94.01 0 Cerebral creatine deficiency syndrome 3 GBE1 98.82 0 Glycogen storage disease IV GCH1 93.92 0 Dystonia, DOPA-responsive, with or without hyperphenylalaninemia GCSH 86.02 0 Glycine encephalopathy GDI1 95.21 0 Mental retardation, X-linked 41 GFAP 99.69 0 Alexander disease GJC2 73.70 0 Leukodystrophy, hypomyelinating, 2 GLB1 99.56 0 GM1-gangliosidosis, type I GLDC 97.83 0 Glycine encephalopathy GLI2 98.60 0 Holoprosencephaly 9 GLI3 99.55 0 Greig cephalopolysyndactyly syndrome GLUL 99.68 0 Glutamine deficiency, congenital GLYCTK 99.69 0 D-glyceric aciduria GM2A 99.68 0 GM2-gangliosidosis, AB variant GMPPA 99.69 0 Alacrima, achalasia, and mental retardation syndrome GMPPB 99.64 0 Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 14 GNAI3 99.08 0 Auriculocondylar syndrome 1 GNAO1 99.66 0 Epileptic encephalopathy, early infantile, 17 GNAS 97.96 0 Pseudohypoparathyroidism Ia GNPAT 97.06 0 Rhizomelic chondrodysplasia punctata, type 2 GNPTAB 99.49 0 Mucolipidosis II alpha/beta GNPTG 90.19 0 Mucolipidosis III gamma GNS 99.55 0 Mucopolysaccharidosis type IIID GPC3 91.66 0 Simpson-Golabi-Behmel syndrome, type 1 GPHN 99.58 0 Molybdenum cofactor deficiency C GPSM2 99.10 0 Chudley-McCullough syndrome GPT2 95.20 0 Mental retardation, autosomal recessive 49 GRIA3 89.99 0 Mental retardation, X-linked 94 GRID2 99.47 0 Spinocerebellar ataxia, autosomal recessive 18 GRIK2 99.13 0 Mental retardation, autosomal recessive, 6 GRIN1 99.54 0 Mental retardation, autosomal dominant 8 GRIN2A 99.68 0 Epilepsy, focal, with speech disorder and with or without mental retardation GRIN2B 99.66 0 Mental retardation, autosomal dominant 6 GRIP1 99.65 0 Fraser syndrome 3 GRM1 99.46 0 Spinocerebellar ataxia 44 GSS 99.59 0 Glutathione synthetase deficiency GTF2E2 98.86 0 Trichothiodystrophy 6, nonphotosensitive GTF2H5 99.64 0 Trichothiodystrophy 3, photosensitive GTPBP3 97.37 0 Combined oxidative phosphorylation deficiency 23 GUSB 98.73 0 Mucopolysaccharidosis VII HACE1 96.37 0 Spastic paraplegia and psychomotor retardation with or without seizures HCFC1 99.76 0 Spastic paraplegia and psychomotor retardation with or without seizures HCN1 94.14 0 Epileptic encephalopathy, early infantile, 24 HDAC4 99.68 0 Fisch et al., AJMG 2016 : ID HDAC8 99.17 0 Cornelia de Lange syndrome 5 HECW2 99.50 0 Neurodevelopmental disorder with hypotonia, seizures, and absent language HEPACAM 91.30 0 Megalencephalic leukoencephalopathy with subcortical cysts 2B, remitting, with or without mental retardation HERC1 99.49 0 Macrocephaly, dysmorphic facies, and psychomotor retardation HERC2 99.66 0 Mental retardation, autosomal recessive 38 HESX1 98.36 0 Growth hormone deficiency with pituitary anomalies HEXA 99.67 0 Tay-Sachs disease HEXB 97.84 0 Sandhoff disease, infantile, juvenile, and adult forms HGSNAT 94.00 0 Mucopolysaccharidosis type IIIC (Sanfilippo C) HIVEP2 99.60 0 Mental retardation, autosomal dominant 43 HLCS 99.60 0 Holocarboxylase synthetase deficiency HNMT 99.26 0 Mental retardation, autosomal recessive 51 HNRNPH2 99.85 0 Mental retardation, X-linked, syndromic, Bain type HNRNPK 99.17 0 Au-Kline syndrome HNRNPU 98.33 0 Epileptic encephalopathy, early infantile, 54 HOXA1 99.65 0 Athabaskan brainstem dysgenesis syndrome HPRT1 75.78 0 Lesch-Nyhan syndrome HRAS 99.69 0 Costello syndrome HSD17B10 99.97 0 HSD10 mitochondrial disease HSPG2 98.62 0 Dyssegmental dysplasia, Silverman-Handmaker type HUWE1 97.92 0 Mental retardation, X-linked syndromic, Turner type IARS1 99.32 0 Growth retardation, intellectual developmental disorder, hypotonia, and hepatopathy IARS2 99.11 0 Cataracts, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, and skeletal dysplasia IDS 97.07 0 Mucopolysaccharidosis II IDUA 77.72 0 Mucopolysaccharidosis Ih/s IER3IP1 98.86 0 Microcephaly, epilepsy, and diabetes syndrome IFIH1 99.07 0 Aicardi-Goutieres syndrome 7 IFT172 99.62 0 Short-rib thoracic dysplasia 10 with or without polydactyly IFT27 99.69 0 Bardet-Biedl syndrome 19 IFT57 98.66 0 Thevenon et al., Clin Genet 2016 : Oro-facial-digital syndrome IGF1 99.63 0 Growth retardation with deafness and mental retardation due to IGF1 deficiency IL1RAPL1 93.86 0 Mental retardation, X-linked 21/34 INPP5E 98.14 0 Joubert syndrome 1 INTU 98.49 0 Bruel et al., JMG 2017 : oro-facial-digital syndrome IQSEC2 97.05 0 Mental retardation, X-linked 1/78 IRX5 89.09 0 Hamamy syndrome CRPPA 92.51 0 Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7 ITGA7 99.67 0 Muscular dystrophy, congenital, due to ITGA7 deficiency ITPR1 99.38 0 Spinocerebellar ataxia 29, congenital nonprogressive JAM3 99.20 0 Hemorrhagic destruction of the brain, subependymal calcification, and cataracts KANSL1 99.63 0 Koolen-De Vries syndrome KAT6A 99.60 0 Mental retardation, autosomal dominant 32 KAT6B 99.21 0 Genitopatellar syndrome KCNC1 99.05 0 Epilepsy, progressive myoclonic 7 KCNC3 76.28 0 Spinocerebellar ataxia 13 KCNH1 98.56 0 Temple-Baraitser syndrome KCNJ10 99.68 0 SESAME syndrome KCNJ11 99.69 0 Diabetes, permanent neonatal, with or without neurologic features KCNK9 99.67 0 Birk-Barel mental retardation dysmorphism syndrome KCNMA1 99.54 0 Paroxysmal nonkinesigenic dyskinesia, 3, with or without generalized epilepsy KCNQ2 98.93 0 Epileptic encephalopathy, early infantile, 7 KCNQ5 96.45 0 Mental retardation, autosomal dominant 46 KCNT1 98.70 0 Epileptic encephalopathy, early infantile, 14 KCTD7 95.20 0 Epilepsy, progressive myoclonic 3, with or without intracellular inclusions KDM1A 96.83 0 Cleft palate, psychomotor retardation, and distinctive facial features KDM5C 99.87 0 Mental retardation, X-linked, syndromic, Claes-Jensen type KDM6A 94.07 0 Kabuki syndrome 2 KIAA0586 92.34 0 Joubert syndrome 23 KIAA0753 99.23 0 Orofaciodigital syndrome XV NEXMIF 97.66 0 Mental retardation, X-linked 98 KIF11 98.74 0 Microcephaly with or without chorioretinopathy, lymphedema, or mental retardation KIF1A 99.66 0 Mental retardation, autosomal dominant 9 KIFBP 96.44 0 Goldberg-Shprintzen megacolon syndrome KIF4A 99.41 0 Mental retardation, X-linked 100 KIF5A 99.35 0 Myoclonus, intractable, neonatal KIF5C 96.19 0 Cortical dysplasia, complex, with other brain malformations 2 KIF7 99.42 0 Joubert syndrome 12 KIRREL3 99.66 0 Mental retardation, autosomal dominant 4 KLC2 99.69 0 Spastic paraplegia, optic atrophy, and neuropathy KMT2A 97.93 0 Wiedemann-Steiner syndrome KMT2C 99.31 0 Kleefstra syndrome 2 KMT2D 99.67 0 Kabuki syndrome 1 KMT2E 98.54 0 Dong et al., Cell Rep 2014 : trouble du spectre autistique KMT5B 99.31 0 Stessman et al., Nat Genet 2017 : autisme et retard développemental KNL1 92.70 0 Microcephaly 4, primary, autosomal recessive KPTN 99.37 0 Mental retardation, autosomal recessive 41 KRAS 99.32 0 Noonan syndrome 3 L1CAM 99.66 0 CRASH syndrome L2HGDH 98.45 0 L-2-hydroxyglutaric aciduria LAMA1 99.13 0 Poretti-Boltshauser syndrome LAMA2 99.46 0 Muscular dystrophy, congenital, due to partial LAMA2 deficiency LAMB1 99.50 0 Lissencephaly 5 LAMC3 97.99 0 Cortical malformations, occipital LAMP2 93.32 0 Danon disease LARGE1 99.64 0 Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 6 LARP7 97.40 0 Alazami syndrome LAS1L 99.76 0 Wilson-Turner syndrome LIAS 98.94 0 Hyperglycinemia, lactic acidosis, and seizures LIG4 99.55 0 LIG4 syndrome LINS1 98.65 0 Mental retardation, autosomal recessive 27 LIPT1 98.69 0 Lipoyltransferase 1 deficiency LMBRD1 96.94 0 Methylmalonic aciduria and homocystinuria, cblF type LMNA 99.49 0 Emery-Dreifuss muscular dystrophy 3, AR LRP2 99.40 0 Donnai-Barrow syndrome LZTFL1 98.67 0 Bardet-Biedl syndrome 17 LZTR1 99.56 0 Noonan syndrome 10 MAGEL2 98.06 0 Schaaf-Yang syndrome MAN1B1 98.88 0 Mental retardation, autosomal recessive 15 MAN2B1 99.40 0 Mannosidosis, alpha-, types I and II MANBA 99.01 0 Mannosidosis, beta MAOA 85.51 0 Brunner syndrome MAP2K1 99.62 0 Cardiofaciocutaneous syndrome 3 MAP2K2 99.01 0 Cardiofaciocutaneous syndrome 4 MASP1 99.59 0 3MC syndrome 1 MAT1A 99.66 0 Hypermethioninemia, persistent, autosomal dominant, due to methionine adenosyltransferase I/III deficiency MBD5 99.52 0 Mental retardation, autosomal dominant 1 MBOAT7 99.50 0 Mental retardation, autosomal recessive 57 MBTPS2 96.46 0 IFAP syndrome with or without BRESHECK syndrome MCCC1 99.50 0 3-Methylcrotonyl-CoA carboxylase 1 deficiency MCOLN1 93.43 0 Mucolipidosis IV MCPH1 98.40 0 Microcephaly 1, primary, autosomal recessive MECP2 89.77 0 Rett syndrome MED12 99.82 0 Opitz-Kaveggia syndrome MED13L 99.52 0 Mental retardation and distinctive facial features with or without cardiac defects MED17 98.79 0 Microcephaly, postnatal progressive, with seizures and brain atrophy MED23 98.87 0 Mental retardation, autosomal recessive 18 MEF2C 99.52 0 Mental retardation, stereotypic movements, epilepsy, and/or cerebral malformations MEIS2 99.65 0 Cleft palate, cardiac defects, and mental retardation METTL23 99.62 0 Mental retardation, autosomal recessive 44 MFSD8 99.30 0 Ceroid lipofuscinosis, neuronal, 7 MID1 97.46 0 Opitz GBBB syndrome, type I MKKS 99.58 0 Bardet-Biedl syndrome 6 MKS1 99.54 0 Bardet-Biedl syndrome 13 MLYCD 87.33 0 Malonyl-CoA decarboxylase deficiency MMACHC 99.68 0 Methylmalonic aciduria and homocystinuria, cblC type MOCS1 99.68 0 Molybdenum cofactor deficiency A MOCS2 99.48 0 Molybdenum cofactor deficiency B MOGS 92.25 0 Congenital disorder of glycosylation, type IIb MPDU1 99.69 0 Congenital disorder of glycosylation, type If MPDZ 99.22 0 Hydrocephalus, nonsyndromic, autosomal recessive 2 MPLKIP 99.63 0 Trichothiodystrophy 4, nonphotosensitive MTFMT 97.00 0 Combined oxidative phosphorylation deficiency 15 MTHFR 99.58 0 Homocystinuria due to MTHFR deficiency MTM1 94.11 0 Myotubular myopathy, X-linked MTOR 99.61 0 Smith-Kingsmore syndrome MTR 99.55 0 Homocystinuria-megaloblastic anemia, cblG complementation type MTRR 99.33 0 Homocystinuria-megaloblastic anemia, cbl E type MVK 99.69 0 Mevalonic aciduria MYCN 82.91 0 Feingold syndrome 1 MYO5A 97.60 0 Griscelli syndrome, type 1 MYT1L 99.59 0 Mental retardation, autosomal dominant 39 NAA10 87.47 0 Ogden syndrome NACC1 99.66 0 Neurodevelopmental disorder with epilepsy, cataracts, feeding difficulties, and delayed brain myelination NAGA 99.67 0 Schindler disease, type I NAGLU 84.28 0 Mucopolysaccharidosis type IIIB (Sanfilippo B) NALCN 99.38 0 Congenital contractures of the limbs and face, hypotonia, and developmental delay NARS2 98.96 0 Combined oxidative phosphorylation deficiency 24 NBN 98.67 0 Nijmegen breakage syndrome NDE1 99.69 0 Lissencephaly 4 (with microcephaly) NDP 99.56 0 Norrie disease NDST1 99.67 0 Mental retardation, autosomal recessive 46 NDUFA1 97.69 0 Mitochondrial complex I deficiency NDUFA11 99.69 0 Mitochondrial complex I deficiency NDUFA12 99.64 0 Leigh syndrome due to mitochondrial complex 1 deficiency NDUFA2 99.69 0 Leigh syndrome due to mitochondrial complex I deficiency NDUFA9 99.27 0 Leigh syndrome due to mitochondrial complex I deficiency NDUFAF6 89.55 0 Leigh syndrome due to mitochondrial complex I deficiency NDUFS2 99.25 0 Mitochondrial complex I deficiency NDUFS3 99.67 0 Leigh syndrome due to mitochondrial complex I deficiency NDUFS4 99.05 0 Mitochondrial complex I deficiency NDUFS7 99.38 0 Leigh syndrome NEDD4L 98.92 0 Periventricular nodular heterotopia 7 NFIA 99.44 0 Brain malformations and urinary tract defects NFIX 99.64 0 Sotos syndrome 2 NGF 99.66 0 Neuropathy, hereditary sensory and autonomic, type V NHEJ1 99.67 0 Severe combined immunodeficiency with microcephaly, growth retardation, and sensitivity to ionizing radiation NHP2 99.64 0 Dyskeratosis congenita, autosomal recessive 2 NHS 88.25 0 Nance-Horan syndrome NIN 99.20 0 Seckel syndrome 7 NIPBL 98.53 0 Cornelia de Lange syndrome 1 NKX2-1 92.05 0 Choreoathetosis, hypothyroidism, and neonatal respiratory distress NONO 98.37 0 Mental retardation, X-linked, syndromic 34 NOTCH1 96.74 0 Adams-Oliver syndrome 5 NPC1 98.34 0 Niemann-Pick disease, type C1 NPC2 99.67 0 Niemann-pick disease, type C2 NPHP1 99.24 0 Joubert syndrome 4 NPHP3 98.15 0 Meckel syndrome 7 NR2F1 86.66 0 Bosch-Boonstra-Schaaf optic atrophy syndrome NR5A1 99.25 0 Adrenocortical insufficiency NRAS 99.61 0 Noonan syndrome 6 NRXN1 99.52 0 Pitt-Hopkins-like syndrome 2 NSD1 99.26 0 Sotos syndrome 1 NSDHL 99.39 0 CHILD syndrome NSUN2 95.86 0 Mental retardation, autosomal recessive 5 OCLN 99.47 0 Pseudo-TORCH syndrome 1 OCRL 92.17 0 Lowe syndrome OFD1 92.99 0 Orofaciodigital syndrome I OGT 96.41 0 Mental retardation, X-linked 106 OPHN1 90.64 0 Mental retardation, X-linked, with cerebellar hypoplasia and distinctive facial appearance ORC1 99.49 0 Meier-Gorlin syndrome 1 ORC4 98.60 0 Meier-Gorlin syndrome 2 ORC6 98.10 0 Meier-Gorlin syndrome 3 OSGEP 99.65 0 Braun et al., Nat Genet 2017 : Galloway-Mowat syndrome OTC 92.10 0 Ornithine transcarbamylase deficiency OTUD6B 97.03 0 Intellectual developmental disorder with dysmorphic facies, seizures, and distal limb anomalies PACS1 97.17 0 Schuurs-Hoeijmakers syndrome PAFAH1B1 98.98 0 Lissencephaly 1 PAH 99.66 0 Phenylketonuria PAK3 87.10 0 Mental retardation, X-linked 30/47 PANK2 95.75 0 Neurodegeneration with brain iron accumulation 1 PAX1 82.57 0 Otofaciocervical syndrome 2 PAX3 99.68 0 Craniofacial-deafness-hand syndrome PAX6 99.51 0 Aniridia PC 99.69 0 Pyruvate carboxylase deficiency PCDH19 99.22 0 Epileptic encephalopathy, early infantile, 9 PCGF2 99.69 0 Fitzgerald et al., Nature 2015 : retard mental, retard dévelopemental PCNT 99.50 0 Microcephalic osteodysplastic primordial dwarfism, type II PDE4D 97.76 0 Acrodysostosis 2, with or without hormone resistance PDHA1 97.16 0 Pyruvate dehydrogenase E1-alpha deficiency PDHB 99.40 0 Pyruvate dehydrogenase E1-beta deficiency PDHX 98.49 0 Lacticacidemia due to PDX1 deficiency PDSS1 82.84 0 Coenzyme Q10 deficiency, primary, 2 PDSS2 98.95 0 Coenzyme Q10 deficiency, primary, 3 PEPD 99.61 0 Prolidase deficiency PEX1 98.83 0 Peroxisome biogenesis disorder 1A (Zellweger) PEX10 83.86 0 Peroxisome biogenesis disorder 6A (Zellweger) PEX11B 99.63 0 Peroxisome biogenesis disorder 14B PEX12 99.40 0 Peroxisome biogenesis disorder 3A (Zellweger) PEX13 99.25 0 Peroxisome biogenesis disorder 11A (Zellweger) PEX14 99.66 0 Peroxisome biogenesis disorder 13A (Zellweger) PEX16 99.69 0 Peroxisome biogenesis disorder 8A (Zellweger) PEX19 99.60 0 Peroxisome biogenesis disorder 12A (Zellweger) PEX2 99.69 0 Peroxisome biogenesis disorder 5A (Zellweger) PEX26 96.96 0 Peroxisome biogenesis disorder 7A (Zellweger) PEX3 98.89 0 Peroxisome biogenesis disorder 10A (Zellweger) PEX5 99.15 0 Peroxisome biogenesis disorder 2A (Zellweger) PEX6 98.57 0 Peroxisome biogenesis disorder 4A (Zellweger) PEX7 90.36 0 Peroxisome biogenesis disorder 9B PGAP1 97.25 0 Mental retardation, autosomal recessive 42 PGAP2 99.68 0 Hyperphosphatasia with mental retardation syndrome 3 PGAP3 99.15 0 Hyperphosphatasia with mental retardation syndrome 4 PGK1 99.16 0 Phosphoglycerate kinase 1 deficiency PHC1 99.66 0 Microcephaly 11, primary, autosomal recessive PHF6 84.23 0 Borjeson-Forssman-Lehmann syndrome PHF8 99.04 0 Mental retardation syndrome, X-linked, Siderius type PHGDH 99.67 0 Phosphoglycerate dehydrogenase deficiency PHIP 95.93 0 Webster et al., Cold Spring Harb Mol Case Stud. 2016 : DD, ID, obésité et dysmorphies PIGA 92.30 0 Multiple congenital anomalies-hypotonia-seizures syndrome 2 PIGG 99.54 0 Mental retardation, autosomal recessive 53 PIGL 99.59 0 CHIME syndrome PIGN 97.78 0 Multiple congenital anomalies-hypotonia-seizures syndrome 1 PIGO 99.67 0 Hyperphosphatasia with mental retardation syndrome 2 PIGT 99.63 0 Multiple congenital anomalies-hypotonia-seizures syndrome 3 PIGV 99.66 0 Hyperphosphatasia with mental retardation syndrome 1 PIGW 99.68 0 Hyperphosphatasia with mental retardation syndrome 5 PIGY 99.66 0 Hyperphosphatasia with mental retardation syndrome 6 PIK3R2 91.70 0 Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1 PLA2G6 99.69 0 Neurodegeneration with brain iron accumulation 2B PLCB1 99.15 0 Epileptic encephalopathy, early infantile, 12 PLCB4 99.09 0 Auriculocondylar syndrome 2 PLOD1 98.58 0 Ehlers-Danlos syndrome, type VI PLP1 99.86 0 Pelizaeus-Merzbacher disease PMM2 98.47 0 Congenital disorder of glycosylation, type Ia PNKP 99.68 0 Microcephaly, seizures, and developmental delay PNP 99.66 0 Immunodeficiency due to purine nucleoside phosphorylase deficiency POC1A 99.26 0 Short stature, onychodysplasia, facial dysmorphism, and hypotrichosis POGZ 98.81 0 White-Sutton syndrome POLG 99.59 0 Mitochondrial DNA depletion syndrome 4B (MNGIE type) POLH 99.55 0 Xeroderma pigmentosum, variant type POLR3A 99.40 0 Leukodystrophy, hypomyelinating, 7, with or without oligodontia and/or hypogonadotropic hypogonadism POLR3B 99.29 0 Leukodystrophy, hypomyelinating, 8, with or without oligodontia and/or hypogonadotropic hypogonadism POMGNT1 99.66 0 Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 3 POMGNT2 99.69 0 Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies, type A, 8 POMK 99.66 0 Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 12 POMT1 99.56 0 Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 1 POMT2 98.42 0 Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 2 PORCN 99.91 0 Focal dermal hypoplasia PPM1D 98.20 0 Intellectual developmental disorder with gastrointestinal difficulties and high pain threshold PPP1CB 99.40 0 Noonan syndrome-like disorder with loose anagen hair 2 PPP2R1A 99.69 0 Mental retardation, autosomal dominant 36 PPP2R5D 99.64 0 Mental retardation, autosomal dominant 35 PPT1 99.67 0 Ceroid lipofuscinosis, neuronal, 1 PQBP1 99.90 0 Renpenning syndrome PRICKLE1 99.67 0 Epilepsy, progressive myoclonic 1B PRMT7 99.21 0 Short stature, brachydactyly, intellectual developmental disability, and seizures PRPS1 98.61 0 Arts syndrome PRSS12 98.69 0 Mental retardation, autosomal recessive 1 PSAP 99.68 0 Krabbe disease, atypical PSMD12 99.44 0 Stankiewicz-Isidor syndrome PTCH1 97.64 0 Holoprosencephaly 7 PTCHD1 99.37 0 Autism, susceptibility to, X-linked 4 PTDSS1 99.56 0 Lenz-Majewski hyperostotic dwarfism PTEN 98.68 0 Cowden syndrome 1 PTPN11 97.30 0 LEOPARD syndrome 1 PUF60 99.56 0 Verheij syndrome PURA 84.89 0 Mental retardation, autosomal dominant 31 PUS1 93.31 0 Myopathy, lactic acidosis, and sideroblastic anemia 1 PYCR1 99.67 0 Cutis laxa, autosomal recessive, type IIB QDPR 96.67 0 Hyperphenylalaninemia, BH4-deficient, C RAB18 98.43 0 Warburg micro syndrome 3 RAB27A 95.80 0 Griscelli syndrome, type 2 RAB39B 99.96 0 Mental retardation, X-linked 72 RAB3GAP1 99.24 0 Warburg micro syndrome 1 RAB3GAP2 99.14 0 Martsolf syndrome RAC1 87.43 0 Mental retardation, autosomal dominant 48 RAD21 99.34 0 Cornelia de Lange syndrome 4 RAF1 99.65 0 Noonan syndrome 5 RAI1 97.85 0 Smith-Magenis syndrome RARB 99.52 0 Microphthalmia, syndromic 12 RARS2 99.20 0 Pontocerebellar hypoplasia, type 6 RASA2 95.15 0 Aoki et al., JHG 2016 : RASopathie RAX 78.51 0 Microphthalmia, isolated 3 RBBP8 96.69 0 Seckel syndrome 2 RBM10 99.86 0 TARP syndrome RBM28 99.55 0 Alopecia, neurologic defects, and endocrinopathy syndrome RBM8A 99.68 0 Thrombocytopenia-absent radius syndrome RBPJ 99.36 0 Adams-Oliver syndrome 3 RECQL4 91.13 0 Baller-Gerold syndrome RELN 99.47 0 Lissencephaly 2 (Norman-Roberts type) RERE 99.45 0 Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart RFT1 97.48 0 Congenital disorder of glycosylation, type In RIT1 99.66 0 Noonan syndrome 8 RMND1 98.79 0 Combined oxidative phosphorylation deficiency 11 RNASEH2A 99.69 0 Aicardi-Goutieres syndrome 4 RNASEH2B 90.13 0 Aicardi-Goutieres syndrome 2 RNASEH2C 96.74 0 Aicardi-Goutieres syndrome 3 RNASET2 99.45 0 Leukoencephalopathy, cystic, without megalencephaly RNF113A 99.85 0 Trichothiodystrophy 5, nonphotosensitive ROGDI 90.00 0 Kohlschutter-Tonz syndrome RPGRIP1L 95.44 0 Joubert syndrome 7 RPIA 98.01 0 Ribose 5-phosphate isomerase deficiency RPS6KA3 85.79 0 Coffin-Lowry syndrome RRAS 94.39 0 Flex et al., HMG 2014 : RASopathie RTEL1 99.69 0 Dyskeratosis congenita, autosomal recessive 5 RTTN 98.71 0 Microcephaly, short stature, and polymicrogyria with seizures SALL1 99.68 0 Townes-Brocks branchiootorenal-like syndrome SAMHD1 99.47 0 Aicardi-Goutieres syndrome 5 SATB2 99.46 0 Glass syndrome SC5D 99.08 0 Lathosterolosis SCN1A 98.95 0 Epileptic encephalopathy, early infantile, 6 (Dravet syndrome) SCN2A 98.85 0 Epileptic encephalopathy, early infantile, 11 SCN8A 99.37 0 Epileptic encephalopathy, early infantile, 13 SCO2 99.68 0 Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1 SDCCAG8 99.19 0 Bardet-Biedl syndrome 16 SDHAF1 66.11 0 Mitochondrial complex II deficiency SEPSECS 99.07 0 Pontocerebellar hypoplasia type 2D SERAC1 98.98 0 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome SETBP1 98.39 0 Mental retardation, autosomal dominant 29 SETD2 99.30 0 Luscan-Lumish syndrome SETD5 99.55 0 Mental retardation, autosomal dominant 23 SGSH 96.47 0 Mucopolysaccharidosis type IIIA (Sanfilippo A) SHANK2 83.77 0 Autism susceptibility 17 SHANK3 78.63 0 Phelan-McDermid syndrome SHH 90.25 0 Holoprosencephaly 3 SHOC2 97.89 0 Noonan-like syndrome with loose anagen hair SHROOM4 99.52 0 Stocco dos Santos X-linked mental retardation syndrome SIL1 99.65 0 Marinesco-Sjogren syndrome SIN3A 99.56 0 Witteveen-Kolk syndrome SIX3 89.54 0 Holoprosencephaly 2 SKI 93.23 0 Shprintzen-Goldberg syndrome SLC12A6 99.13 0 Agenesis of the corpus callosum with peripheral neuropathy SLC16A2 99.71 0 Allan-Herndon-Dudley syndrome SLC17A5 98.53 0 Salla disease SLC19A3 99.50 0 Thiamine metabolism dysfunction syndrome 2 (biotin- or thiamine-responsive encephalopathy type 2) SLC1A4 97.40 0 Spastic tetraplegia, thin corpus callosum, and progressive microcephaly SLC25A1 86.05 0 Combined D-2- and L-2-hydroxyglutaric aciduria SLC25A12 99.45 0 Epileptic encephalopathy, early infantile, 39 SLC25A15 99.57 0 Hyperornithinemia-hyperammonemia-homocitrullinemia syndrome SLC25A19 99.66 0 Microcephaly, Amish type SLC25A22 99.68 0 Epileptic encephalopathy, early infantile, 3 SLC2A1 93.34 0 GLUT1 deficiency syndrome 1, infantile onset, severe SLC33A1 98.70 0 Congenital cataracts, hearing loss, and neurodegeneration SLC35A2 99.98 0 Congenital disorder of glycosylation, type IIm SLC35C1 99.69 0 Congenital disorder of glycosylation, type IIc SLC45A1 92.61 0 Intellectual developmental disorder with neuropsychiatric features SLC46A1 97.75 0 Folate malabsorption, hereditary SLC4A4 99.23 0 Renal tubular acidosis, proximal, with ocular abnormalities SLC6A1 99.61 0 Myoclonic-atonic epilepsy SLC6A17 99.68 0 Mental retardation, autosomal recessive 48 SLC6A3 99.68 0 Parkinsonism-dystonia, infantile SLC6A8 92.97 0 Cerebral creatine deficiency syndrome 1 SLC7A7 99.67 0 Lysinuric protein intolerance SLC9A6 80.47 0 Mental retardation, X-linked syndromic, Christianson type SMARCA2 97.63 0 Nicolaides-Baraitser syndrome SMARCA4 99.68 0 Coffin-Siris syndrome 4 SMARCB1 99.47 0 Coffin-Siris syndrome 3 SMARCE1 98.87 0 Coffin-Siris syndrome 5 SMC1A 97.41 0 Cornelia de Lange syndrome 2 SMC3 98.62 0 Cornelia de Lange syndrome 3 SMOC1 98.99 0 Microphthalmia with limb anomalies SMPD1 99.68 0 Niemann-Pick disease, type A SMS 83.70 0 Mental retardation, X-linked, Snyder-Robinson type SNAP29 98.97 0 Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome SNIP1 99.59 0 Psychomotor retardation, epilepsy, and craniofacial dysmorphism SNX14 97.83 0 Spinocerebellar ataxia, autosomal recessive 20 SOBP 96.13 0 Mental retardation, anterior maxillary protrusion, and strabismus SON 99.42 0 ZTTK syndrome SOS1 98.22 0 Noonan syndrome 4 SOS2 98.32 0 Noonan syndrome 9 SOX10 93.26 0 Waardenburg syndrome, type 2E, with or without neurologic involvement SOX11 84.37 0 Mental retardation, autosomal dominant, 27 SOX2 95.94 0 Optic nerve hypoplasia and abnormalities of the central nervous system SOX5 99.56 0 Lamb-Shaffer syndrome AFG2A 98.88 0 Epilepsy, hearing loss, and mental retardation syndrome SPECC1L 99.49 0 Opitz GBBB syndrome, type II SPR 77.10 0 Dystonia, dopa-responsive, due to sepiapterin reductase deficiency SPRED1 99.22 0 Legius syndrome SPTAN1 99.48 0 Epileptic encephalopathy, early infantile, 5 SRCAP 99.65 0 Floating-Harbor syndrome SRD5A3 96.86 0 Congenital disorder of glycosylation, type Iq ST3GAL3 99.66 0 Mental retardation, autosomal recessive 12 ST3GAL5 85.32 0 Salt and pepper developmental regression syndrome STAG1 98.01 0 Mental retardation, autosomal dominant 47 STAMBP 99.58 0 Microcephaly-capillary malformation syndrome STIL 99.24 0 Microcephaly 7, primary, autosomal recessive STRA6 99.67 0 Microphthalmia, syndromic 9 STT3A 99.55 0 Congenital disorder of glycosylation, type Iw STT3B 95.54 0 Congenital disorder of glycosylation, type Ix STX1B 99.68 0 Generalized epilepsy with febrile seizures plus, type 9 STXBP1 99.55 0 Epileptic encephalopathy, early infantile, 4 SUCLG1 98.06 0 Mitochondrial DNA depletion syndrome 9 (encephalomyopathic type with methylmalonic aciduria) SUOX 99.68 0 Sulfite oxidase deficiency SURF1 86.96 0 Leigh syndrome, due to COX IV deficiency SYN1 88.25 0 Epilepsy, X-linked, with variable learning disabilities and behavior disorders SYNCRIP 99.45 0 Lelieveld et al., Nat Neurosci 2016 : ID SYNE1 99.44 0 Spinocerebellar ataxia, autosomal recessive 8 SYNGAP1 99.68 0 Mental retardation, autosomal dominant 5 SYP 93.14 0 Mental retardation, X-linked 96 SYT14 88.69 0 Spinocerebellar ataxia, autosomal recessive 11 TAF1 97.05 0 Mental retardation, X-linked, syndromic 33 TAF2 98.57 0 Mental retardation, autosomal recessive 40 TBC1D23 97.70 0 Pontocerebellar hypoplasia, type 11 TBC1D24 99.68 0 Epileptic encephalopathy, early infantile, 16 TBC1D7 98.94 0 Macrocephaly/megalencephaly syndrome, autosomal recessive TBCE 98.41 0 Hypoparathyroidism-retardation-dysmorphism syndrome TBCK 98.05 0 Hypotonia, infantile, with psychomotor retardation and characteristic facies 3 TBL1XR1 98.00 0 Mental retardation, autosomal dominant 41 TCF20 99.69 0 Schäfgen et al., EJHG 2016 : TSA, DI, croissance excessive et hypotonie TCF4 99.65 0 Pitt-Hopkins syndrome TCOF1 99.61 0 Treacher Collins syndrome 1 TCTN1 99.08 0 Joubert syndrome 13 TCTN2 99.05 0 Joubert syndrome 24 TCTN3 99.61 0 Joubert syndrome 18 TECPR2 99.41 0 Spastic paraplegia 49, autosomal recessive TECR 99.69 0 Mental retardation, autosomal recessive 14 TFAP2A 99.48 0 Branchiooculofacial syndrome TGIF1 99.69 0 Holoprosencephaly 4 TH 98.57 0 Segawa syndrome, recessive THOC2 91.08 0 Mental retardation, X-linked 12/35 THOC6 99.66 0 Beaulieu-Boycott-Innes syndrome THRA 99.60 0 Hypothyroidism, congenital, nongoitrous, 6 TIMM8A 99.66 0 Mohr-Tranebjaerg syndrome TINF2 99.67 0 Dyskeratosis congenita, autosomal dominant 3 TMCO1 95.48 0 Craniofacial dysmorphism, skeletal anomalies, and mental retardation syndrome TMEM107 99.69 0 Orofaciodigital syndrome XVI TMEM138 99.68 0 Joubert syndrome 16 TMEM165 87.14 0 Congenital disorder of glycosylation, type IIk TMEM216 99.69 0 Joubert syndrome 2 TMEM231 99.62 0 Joubert syndrome 20 TMEM237 97.88 0 Joubert syndrome 14 TMEM67 97.57 0 Joubert syndrome 6 TMEM70 97.01 0 Mitochondrial complex V (ATP synthase) deficiency, nuclear type 2 TNK2 99.30 0 Hitomi et al., Ann Neurol 2013 : severe autosomal recessive infantile-onset epilepsy and ID TPK1 98.92 0 Thiamine metabolism dysfunction syndrome 5 (episodic encephalopathy type) TPP1 99.65 0 Spinocerebellar ataxia, autosomal recessive 7 TRAPPC11 98.70 0 Muscular dystrophy, limb-girdle, type 2S TRAPPC9 99.57 0 Mental retardation, autosomal recessive 13 TREX1 99.69 0 Aicardi-Goutieres syndrome 1, dominant and recessive TRIM32 99.68 0 Bardet-Biedl syndrome 11 TRIO 97.17 0 Mental retardation, autosomal dominant 44 TRIP12 99.18 0 Zhang et al., Hum Gen 2017 : intellectual disability with or without autism spectrum disorders, speech delay, and dysmorphic features. TRMT10A 99.08 0 Microcephaly, short stature, and impaired glucose metabolism 1 TRMU 94.99 0 Liver failure, transient infantile TRPV4 99.64 0 Spondylometaphyseal dysplasia, Kozlowski type TSEN2 99.60 0 Pontocerebellar hypoplasia type 2B TSEN54 87.28 0 Pontocerebellar hypoplasia type 2A TSFM 85.15 0 Combined oxidative phosphorylation deficiency 3 TSPAN7 98.69 0 Mental retardation, X-linked 58 SKIC3 99.17 0 Trichohepatoenteric syndrome 1 TTC8 98.67 0 Bardet-Biedl syndrome 8 TTI2 99.57 0 Mental retardation, autosomal recessive 39 TUBA1A 99.69 0 Lissencephaly 3 TUBA8 97.24 0 Cortical dysplasia, complex, with other brain malformations 8 TUBB2A 95.11 0 Cortical dysplasia, complex, with other brain malformations 5 TUBB2B 99.68 0 Cortical dysplasia, complex, with other brain malformations 7 TUBB3 94.69 0 Cortical dysplasia, complex, with other brain malformations 1 TUBB4A 98.34 0 Leukodystrophy, hypomyelinating, 6 TUBG1 99.69 0 Cortical dysplasia, complex, with other brain malformations 4 TUBGCP6 99.69 0 Microcephaly and chorioretinopathy, autosomal recessive, 1 TUSC3 99.45 0 Mental retardation, autosomal recessive 7 TWIST1 59.51 0 Saethre-Chotzen syndrome UBE2A 81.32 0 Mental retardation, X-linked syndromic, Nascimento-type UBE3A 98.84 0 Angelman syndrome UBE3B 99.43 0 Kaufman oculocerebrofacial syndrome UBR1 98.99 0 Johanson-Blizzard syndrome UNC80 99.46 0 Hypotonia, infantile, with psychomotor retardation and characteristic facies 2 UPF3B 90.82 0 Mental retardation, X-linked, syndromic 14 UQCRQ 99.62 0 Mitochondrial complex III deficiency, nuclear type 4 UROC1 99.69 0 Urocanase deficiency USP18 99.69 0 Pseudo-TORCH syndrome 2 USP9X 93.59 0 Mental retardation, X-linked 99 VLDLR 97.10 0 Cerebellar hypoplasia and mental retardation with or without quadrupedal locomotion 1 VPS13B 98.95 0 Cohen syndrome VRK1 99.08 0 Pontocerebellar hypoplasia type 1A WAC 97.24 0 Desanto-Shinawi syndrome WDPCP 98.77 0 Bardet-Biedl syndrome 15 WDR26 99.46 0 Skraban-Deardorff syndrome WDR45 99.94 0 Neurodegeneration with brain iron accumulation 5 WDR45B 98.84 0 Suleiman et al., Clin Genet 2017 : intellectual disability, spastic quadriplegia, epilepsy, and cerebral hypoplasia WDR62 99.58 0 Microcephaly 2, primary, autosomal recessive, with or without cortical malformations WDR73 99.54 0 Galloway-Mowat syndrome WDR81 99.65 0 Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 2 WWOX 99.63 0 Epileptic encephalopathy, early infantile, 28 XPA 95.49 0 Xeroderma pigmentosum, group A XPC 99.66 0 Xeroderma pigmentosum, group C XYLT1 91.40 0 Desbuquois dysplasia 2 YAP1 95.59 0 Coloboma, ocular, with or without hearing impairment, cleft lip/palate, and/or mental retardation YY1 97.61 0 Gabriele-de Vries syndrome ZBTB16 99.69 0 Skeletal defects, genital hypoplasia, and mental retardation ZBTB18 99.10 0 Mental retardation, autosomal dominant 22 ZBTB20 99.63 0 Primrose syndrome ZBTB24 99.63 0 Immunodeficiency-centromeric instability-facial anomalies syndrome-2 ZC4H2 97.81 0 Wieacker-Wolff syndrome ZDHHC9 98.90 0 Mental retardation, X-linked syndromic, Raymond type ZEB2 99.54 0 Mowat-Wilson syndrome ZFYVE26 99.53 0 Spastic paraplegia 15, autosomal recessive ZIC2 67.20 0 Holoprosencephaly 5 ZMPSTE24 98.68 0 Mandibuloacral dysplasia with type B lipodystrophy ZMYND11 99.50 0 Mental retardation, autosomal dominant 30 ZNF335 99.63 0 Microcephaly 10, primary, autosomal recessive ZNF41 99.90 0 Shoichet et al., AJHG 2013 : X-Linked Mental Retardation ZNF711 89.61 0 Mental retardation, X-linked 97 -
Nephropathies, hereditary (219 genes) - KUL
Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments ACE 95.00 0 NM_000789.4 ACTN4 95.00 0 NM_004924.6 AGT 95.00 0 NM_001384479.1 AGTR1 95.00 0 NM_031850.4 AGXT 95.00 0 NM_000030.3 ALG5 95.00 0 NM_013338.5 ALG8 95.00 0 NM_024079.5 ALG9 95.00 0 NM_024740.2 AMN 95.00 0 NM_030943.4 ANKS6 95.00 0 NM_173551.5 ANLN 95.00 0 NM_018685.5 ANOS1 95.00 0 NM_000216.4 AP2S1 95.00 0 NM_004069.6 APOA1 95.00 0 NM_000039.3 APOA2 95.00 0 NM_001643.2 APOC2 95.00 0 NM_000483.5 APOE 95.00 0 NM_000041.4 APOL1 95.00 0 NM_003661.4 APRT 95.00 0 NM_000485.3 ARHGAP24 95.00 0 NM_001025616.3 ARHGDIA 95.00 0 NM_001185077.3 ATP6V0A4 95.00 0 NM_020632.3 ATP6V1B1 95.00 0 NM_001692.4 BMP4 95.00 0 NM_001202.6 BNC2 95.00 0 NM_017637.6 BSND 95.00 0 NM_057176.3 C3 95.00 0 NM_000064.4 CA2 95.00 0 NM_000067.3 CACNA1D 95.00 0 NM_000720.4 CACNA1H 95.00 0 NM_021098.3 CASR 95.00 0 NM_000388.4 CD2AP 95.00 0 NM_012120.3 CD46 95.00 0 NM_002389.4 CDC73 95.00 0 NM_024529.5 CDK20 95.00 0 NM_001039803.3 CEP164 95.00 0 NM_014956.5 CEP290 95.00 0 NM_025114.4 CEP83 95.00 0 NM_016122.3 CFB 95.00 0 NM_001710.6 CFH 95.00 0 NM_000186.4 CFHR1 95.00 0 NM_002113.3 CFHR3 95.00 0 NM_021023.6 CFHR5 95.00 0 NM_030787.4 CFI 95.00 0 NM_000204.5 CLCN2 95.00 0 NM_004366.6 CLCN5 95.00 0 NM_000084.5 CLCNKA 95.00 0 NM_004070.4 CLCNKB 95.00 0 NM_000085.5 CLDN10 95.00 0 NM_006984.5 CLDN16 95.00 0 NM_006580.4 CLDN19 95.00 0 NM_148960.3 CNNM2 95.00 0 NM_017649.5 COL4A1 95.00 0 NM_001845.6 COL4A3 95.00 0 NM_000091.5 COL4A4 95.00 0 NM_000092.5 COL4A5 95.00 0 NM_000495.5 COQ2 95.00 0 NM_015697.9 COQ6 95.00 0 NM_182476.3 COQ8B 95.00 0 NM_024876.4 CRB2 95.00 0 NM_173689.7 CTNS 95.00 0 NM_004937.3 CUBN 95.00 0 NM_001081.4 CUL3 95.00 0 NM_003590.5 CYP11B1 95.00 0 NM_000497.4 CYP11B2 95.00 0 NM_000498.3 CYP17A1 95.00 0 NM_000102.4 CYP24A1 95.00 0 NM_000782.5 DAAM2 95.00 0 NM_001201427.2 DGKE 95.00 0 NM_003647.3 DLEC1 95.00 0 NM_182643.3 DNAJB11 95.00 0 NM_016306.6 DSTYK 95.00 0 NM_015375.3 DZIP1L 95.00 0 NM_173543.3 EGF 95.00 0 NM_001963.6 EHHADH 95.00 0 NM_001966.4 EMP2 95.00 0 NM_001424.6 EYA1 95.00 0 NM_000503.6 FAM20A 95.00 0 NM_017565.4 FAN1 95.00 0 NM_014967.5 FAT1 95.00 0 NM_005245.4 FGA 95.00 0 NM_021871.4 FGF20 95.00 0 NM_019851.3 FGF23 95.00 0 NM_020638.3 FN1 95.00 0 NM_212482.4 FOXC1 95.00 0 NM_001453.3 FOXC2 95.00 0 NM_005251.3 FOXI1 95.00 0 NM_012188.5 FXYD2 95.00 0 NM_001680.5 GANAB 95.00 0 NM_198335.4 GATA3 95.00 0 NM_001002295.2 GATM 95.00 0 NM_001482.3 GDNF 95.00 0 NM_000514.4 GLA 95.00 0 NM_000169.3 GLIS2 95.00 0 NM_032575.3 GNA11 95.00 0 NM_002067.5 GREB1L 95.00 0 NM_001142966.3 GRHPR 95.00 0 NM_012203.2 GRIP1 95.00 0 NM_021150.4 GSN 95.00 0 NM_000177.5 HNF1A 95.00 0 NM_000545.8 HNF1B 95.00 0 NM_000458.4 HNF4A 95.00 0 NM_175914.5 HOGA1 95.00 0 NM_138413.4 HOXA13 95.00 0 NM_000522.5 HPRT1 95.00 0 NM_000194.3 HSD11B2 95.00 0 NM_000196.4 IFT140 95.00 0 NM_014714.4 IFT81 95.00 0 NM_014055.4 INF2 95.00 0 NM_022489.4 INVS 95.00 0 NM_014425.5 ITGA8 95.00 0 NM_003638.3 ITSN1 95.00 0 NM_003024.3 ITSN2 95.00 0 NM_147152.3 JAG1 95.00 0 NM_000214.3 KANK2 95.00 0 NM_001136191.3 KCNA1 95.00 0 NM_000217.3 KCNJ1 95.00 0 NM_000220.6 KCNJ10 95.00 0 NM_002241.5 KCNJ5 95.00 0 NM_000890.5 KIRREL1 95.00 0 NM_018240.7 KL 95.00 0 NM_004795.4 KLHL3 95.00 0 NM_017415.3 LAMB2 95.00 0 NM_002292.4 LCAT 95.00 0 NM_000229.2 LDHD 95.00 0 NM_153486.4 LHX1 95.00 0 NM_005568.5 LIFR 95.00 0 NM_002310.6 LMX1B 95.00 0 NM_002316.4 LYZ 95.00 0 NM_000239.3 MAGED2 95.00 0 NM_177433.3 MAGI2 95.00 0 NM_012301.4 MAPKBP1 95.00 0 NM_001128608.2 MMACHC 95.00 0 NM_015506.3 MOCOS 95.00 0 NM_017947.4 MTX2 95.00 0 NM_006554.5 MUC1 95.00 0 NM_002456.6 MYH9 95.00 0 NM_002473.6 MYO1E 95.00 0 NM_004998.4 NEK8 95.00 0 NM_178170.3 NOTCH2 95.00 0 NM_024408.4 NPHP1 95.00 0 NM_000272.5 NPHP3 95.00 0 NM_153240.5 NPHP4 95.00 0 NM_015102.5 NPHS1 95.00 0 NM_004646.4 NPHS2 95.00 0 NM_014625.4 NR3C1 95.00 0 NM_001018077.1 NR3C2 95.00 0 NM_000901.5 NUP107 95.00 0 NM_020401.4 NUP133 95.00 0 NM_018230.3 NUP160 95.00 0 NM_015231.3 NUP85 95.00 0 NM_024844.5 NUP93 95.00 0 NM_014669.5 OCRL 95.00 0 NM_000276.4 OFD1 95.00 0 NM_003611.3 PAX2 95.00 0 NM_003987.5 PBX1 95.00 0 NM_002585.4 PCBD1 95.00 0 NM_000281.4 PDSS2 95.00 0 NM_020381.4 PHEX 95.00 0 NM_000444.6 PKD1 95.00 0 NM_001009944.3 PKD2 95.00 0 NM_000297.4 PKHD1 95.00 0 NM_138694.4 PLCE1 95.00 0 NM_016341.4 PODXL 95.00 0 NM_005397.4 PRPS1 95.00 0 NM_002764.4 PTPRO 95.00 0 NM_030667.3 REN 95.00 0 NM_000537.4 RET 95.00 0 NM_020975.6 ROBO2 95.00 0 NM_002942.5 SALL1 95.00 0 NM_002968.3 SARS2 95.00 0 NM_017827.4 SCARB2 95.00 0 NM_005506.4 SCNN1A 95.00 0 NM_001038.6 SCNN1B 95.00 0 NM_000336.3 SCNN1G 95.00 0 NM_001039.4 SDCCAG8 95.00 0 NM_006642.5 SEC61A1 95.00 0 NM_013336.4 SGPL1 95.00 0 NM_003901.4 SIX1 95.00 0 NM_005982.4 SIX5 95.00 0 NM_175875.5 SLC12A1 95.00 0 NM_000338.3 SLC12A3 95.00 0 NM_000339.3 SLC22A12 95.00 0 NM_144585.4 SLC26A1 95.00 0 NM_213613.4 SLC2A2 95.00 0 NM_000340.2 SLC2A9 95.00 0 NM_020041.3 SLC34A1 95.00 0 NM_003052.5 SLC34A3 95.00 0 NM_080877.3 SLC3A1 95.00 0 NM_000341.4 SLC4A1 95.00 0 NM_000342.4 SLC4A4 95.00 0 NM_003759.4 SLC5A2 95.00 0 NM_003041.4 SLC7A9 95.00 0 NM_014270.5 SLIT2 95.00 0 NM_004787.4 SMARCAL1 95.00 0 NM_014140.4 TBC1D1 95.00 0 NM_015173.4 TBC1D8B 95.00 0 NM_017752.3 TBX18 95.00 0 NM_001080508.3 TNS2 95.00 0 NM_015319.2 TRAF3IP1 95.00 0 NM_015650.4 TRAP1 95.00 0 NM_016292.3 TRIM8 95.00 0 NM_030912.3 TRPC6 95.00 0 NM_004621.6 TRPM6 95.00 0 NM_017662.5 TSC1 95.00 0 NM_000368.5 TSC2 95.00 0 NM_000548.5 TTC21B 95.00 0 NM_024753.5 TTR 95.00 0 NM_000371.4 UMOD 95.00 0 NM_003361.4 VHL 95.00 0 NM_000551.4 WDR19 95.00 0 NM_025132.4 WDR72 95.00 0 NM_182758.4 WFS1 95.00 0 NM_006005.3 WNK1 95.00 0 NM_018979.4 WNK4 95.00 0 NM_032387.5 WNT4 95.00 0 NM_030761.5 WT1 95.00 0 NM_024426.6 XDH 95.00 0 NM_000379.4 XPNPEP3 95.00 0 NM_022098.4 -
Nephropathy panel - UGent
Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments ACE 99.98 1 ACTG2 99.99 1 ACTN4 100.00 1 ADAMTS13 100.00 1 ADAMTS9 99.94 1 ADCY10 99.77 1 AGXT 100.00 1 AGTR1 99.97 1 AHI1 99.86 1 ALDOB 100.00 1 ALG1 86.66 1 ALG8 95.49 1 ALG9 99.73 1 ALMS1 99.90 1 ALPL 99.88 1 ABCD1 100.00 1 ANKS6 100.00 1 ANLN 99.85 1 ANOS1 99.96 1 AP2S1 99.98 1 APOA1 100.00 1 APOA2 99.84 1 APOL1 99.99 1 APRT 100.00 1 AQP2 100.00 1 ARHGAP24 99.86 1 ARHGDIA 100.00 1 ARL13B 99.53 1 ARL6 99.90 1 ARSA 99.99 1 ATP6V0A4 99.93 1 ATP6V1B1 99.98 1 ATP7B 100.00 1 NLRP3 100.00 1 AVPR2 100.00 1 B9D1 99.80 1 B9D2 99.88 1 BBIP1 99.99 1 BBS1 100.00 1 BBS10 99.98 1 BBS12 100.00 1 BBS2 99.90 1 BBS4 99.88 1 BBS5 99.00 1 BBS7 99.42 1 BBS9 99.75 1 BICC1 99.76 1 BMP4 100.00 1 BMP7 100.00 1 BSND 99.92 1 C3 100.00 1 C5 99.92 1 CA2 99.62 1 CACNA1S 99.96 1 CASR 99.99 1 CC2D2A 99.95 1 CCDC39 99.74 1 CCNQ 99.98 1 CD151 100.00 1 CD2AP 99.69 1 CD46 99.86 1 CDC5L 99.83 1 CDKN1C 100.00 1 CEP104 99.99 1 CEP120 99.90 1 CEP164 99.99 1 CEP290 98.10 1 CEP41 99.99 1 CEP83 98.68 1 CFAP418 100.00 1 CFB 99.97 1 CFH 99.12 1 CFHR1 84.44 1 CFHR2 90.26 1 CFHR3 91.62 1 CFHR4 99.86 1 CFHR5 99.68 1 CFI 99.87 1 CHD1L 98.53 1 CHD7 99.99 1 CHRM3 100.00 1 CHRNA3 99.95 1 CLCN5 99.67 1 CLCN7 99.99 1 CLCNKA 99.98 1 CLCNKB 99.98 1 CLDN10 99.97 1 CLDN16 99.98 1 CLDN19 99.02 1 CNNM2 99.94 1 COL4A1 99.99 1 COL4A3 99.94 1 COL4A4 99.95 1 COL4A5 99.64 1 COQ2 99.90 1 COQ6 99.94 1 COQ7 100.00 1 COQ8A 100.00 1 COQ8B 99.94 1 COQ9 99.62 1 CPLANE1 99.81 1 CPT2 99.65 1 CRB2 99.95 1 CSPP1 98.31 1 CTNS 100.00 1 CUBN 99.99 1 CUL3 99.76 1 CYP11B2 100.00 1 CYP24A1 100.00 1 DAAM2 99.99 1 DCDC2 99.96 1 DGKE 99.10 1 DMP1 99.99 1 DNAJB11 99.97 1 DSTYK 99.83 1 DYNC2H1 99.66 1 DYNC2I1 99.99 1 DZIP1L 98.46 1 EGF 99.96 1 EGFR 99.68 1 EHHADH 99.99 1 EMP2 100.00 1 ENPP1 99.88 1 EVC 99.95 1 EVC2 99.97 1 EYA1 99.81 1 FANCA 99.98 1 FAHD2A 100.00 1 FAM186B 99.99 1 FAM20A 100.00 1 FAN1 99.73 1 FAT1 99.99 1 FGA 99.98 1 FGF20 99.71 1 FGF23 100.00 1 FGFR1 100.00 1 FH 99.95 1 FLCN 99.51 1 FN1 99.95 1 FRAS1 99.97 1 FREM1 99.98 1 FREM2 99.97 1 FXYD2 100.00 1 G6PC1 99.93 1 GALNT3 99.52 1 GALT 100.00 1 GANAB 99.97 1 GATA3 99.96 1 GATM 99.92 1 GDNF 99.99 1 GLA 99.90 1 GLI3 100.00 1 GLIS2 100.00 1 GNA11 99.99 1 GON7 99.92 1 GPC3 99.60 1 GRHPR 99.93 1 GRIP1 99.83 1 GSN 99.93 1 HNF1B 100.00 1 HNF4A 100.00 1 HOGA1 100.00 1 HPRT1 97.80 1 HPSE2 100.00 1 HSD11B2 99.99 1 IFT122 99.98 1 IFT140 100.00 1 IFT172 99.98 1 IFT27 100.00 1 IFT43 99.97 1 IFT80 99.69 1 IFT81 94.64 1 INCENP 99.99 1 INF2 99.99 1 INPP5E 99.85 1 INVS 99.94 1 IQCB1 99.72 1 ITGA3 99.86 1 ITGA8 99.95 1 ITGB4 99.99 1 JAG1 100.00 1 KANK1 99.99 1 KANK2 99.99 1 KANK4 99.70 1 KCNA1 100.00 1 KCNJ1 100.00 1 KCNJ10 99.98 1 KIAA0586 95.75 1 KIF14 97.80 1 KIF7 100.00 1 KL 99.98 1 KLHL3 99.97 1 LAGE3 99.99 1 LAMB2 99.99 1 LMNA 99.96 1 LMX1B 100.00 1 LRIG2 97.97 1 LRP2 99.86 1 LRP5 99.95 1 LRP6 99.91 1 LYZ 99.86 1 LZTFL1 100.00 1 MAGED2 99.98 1 MAGI2 99.89 1 MAPKBP1 99.98 1 MET 99.97 1 MKKS 100.00 1 MKS1 99.92 1 MMACHC 99.98 1 MUC1 99.98 1 MYH9 99.95 1 MYO1E 99.94 1 NEIL1 99.99 1 NEK1 99.83 1 NEK9 99.99 1 NOTCH2 99.03 1 NPHP1 99.05 1 NPHP3 99.89 1 NPHP4 99.98 1 NPHS1 99.97 1 NPHS2 99.87 1 NR3C2 100.00 1 NUP107 97.46 1 NUP133 99.45 1 NUP205 99.92 1 NUP93 99.87 1 NXF5 96.29 1 OCRL 99.89 1 OFD1 99.68 1 PAX2 99.99 1 PAX8 99.99 1 PBX1 99.88 1 PCBD1 99.84 1 PDE6D 99.94 1 PDSS1 95.70 1 PDSS2 99.87 1 PHEX 99.83 1 PKD1 99.98 1 PKD2 99.91 1 PKHD1 99.95 1 PLCE1 99.98 1 PLG 99.89 1 PMM2 99.93 1 PRKCSH 99.99 1 PSAP 99.94 1 PTEN 99.89 1 PTPRO 99.91 1 PYGM 99.96 1 RBM48 99.09 1 RCOR1 99.97 1 REN 99.85 1 RET 99.97 1 ROBO2 99.80 1 RPGRIP1 99.95 1 RPGRIP1L 96.35 1 RRM2B 99.97 1 SALL1 100.00 1 SALL4 100.00 1 SARS2 99.99 1 SCARB2 99.99 1 SCNN1A 100.00 1 SCNN1B 99.38 1 SCNN1G 99.94 1 SDCCAG8 100.00 1 SDHB 97.32 1 SDHD 82.93 1 SEC61A1 99.99 1 SEC63 99.84 1 SGPL1 99.95 1 SIX1 100.00 1 SIX2 100.00 1 SIX5 100.00 1 SLC12A1 99.90 1 SLC12A3 99.84 1 SLC22A12 99.99 1 SLC26A1 100.00 1 SLC26A3 99.97 1 SLC2A2 99.96 1 SLC2A9 99.98 1 SLC34A1 99.99 1 SLC34A3 100.00 1 SLC37A4 99.90 1 SLC3A1 99.98 1 SLC41A1 99.98 1 SLC4A1 99.94 1 SLC4A4 99.97 1 SLC7A9 99.97 1 NHERF1 100.00 1 SMARCAL1 99.97 1 SOX17 100.00 1 SRGAP1 99.68 1 STRADA 99.98 1 STX16 100.00 1 SYNPO 100.00 1 TBC1D1 99.96 1 TBC1D8B 99.31 1 TBX18 99.50 1 TCTN1 99.92 1 TCTN2 99.99 1 TCTN3 99.92 1 THBD 100.00 1 TMEM107 100.00 1 TMEM138 100.00 1 TMEM216 99.98 1 TMEM231 88.88 1 TMEM237 99.30 1 TMEM67 99.69 1 TNFRSF25 99.98 1 TNXB 90.86 1 TP53RK 81.09 1 TRAP1 100.00 1 TRIM32 100.00 1 TRPC6 99.99 1 TRPM6 99.93 1 TSC1 99.99 1 TSC2 99.98 1 TTC21B 99.50 1 TTC8 99.67 1 UMOD 99.98 1 UPK3A 100.00 1 UPK3B 99.62 1 VDR 99.86 1 VHL 100.00 1 VIPAS39 99.87 1 VPS33B 99.95 1 WDPCP 99.87 1 WDR19 99.80 1 WDR35 99.92 1 WDR4 99.95 1 WDR73 99.92 1 WNK1 99.98 1 WNK4 99.98 1 WNT4 99.94 1 WT1 99.99 1 XDH 99.97 1 XPNPEP3 99.99 1 XPO5 99.89 1 YRDC 99.85 1 ZMPSTE24 98.70 1 ZMYM2 99.88 1 ZNF423 98.94 1 -
Nephrotic syndrome, FSGS, Alport syndrome (76 genes) - IPG
Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments ACTN4 100.00 1 NM_004924.6 AMN 100.00 1 NM_030943.4 ANLN 100.00 1 NM_018685.5 APOA1 100.00 1 NM_000039.3 APOL1 100.00 1 NM_003661.4 ARHGAP24 100.00 1 NM_001025616.3 ARHGDIA 100.00 1 NM_004309.6 AVIL 100.00 1 NM_006576.4 B2M 100.00 1 NM_004048.4 C3 100.00 1 NM_000064.4 CD151 100.00 1 NM_004357.5 CD2AP 100.00 1 NM_012120.3 CLCN5 100.00 1 NM_001127898.4 COL4A3 100.00 1 NM_000091.5 COL4A4 100.00 1 NM_000092.5 COL4A5 100.00 1 NM_033380.3 COL4A6 100.00 1 NM_033641.4 COQ2 100.00 1 NM_001358921.2 COQ6 100.00 1 NM_182476.3 COQ8A 100.00 1 NM_020247.5 COQ8B 100.00 1 NM_024876.4 CRB2 100.00 1 NM_173689.7 CUBN 100.00 1 NM_001081.4 DGKE 100.00 1 NM_003647.3 EMP2 100.00 1 NM_001424.6 FGA 100.00 1 NM_021871.4 FN1 100.00 1 NM_212482.4 G6PC1 100.00 1 NM_000151.4 GLA 100.00 1 NM_000169.3 GSN 100.00 1 NM_198252.3 INF2 100.00 1 NM_022489.4 KANK2 100.00 1 NM_001136191.3 LAMB2 100.00 1 NM_002292.4 LMX1B 100.00 1 NM_001174147.2 LRP2 100.00 1 NM_004525.3 LYZ 100.00 1 NM_000239.3 MAGI2 100.00 1 NM_012301.4 MYH9 100.00 1 NM_002473.6 MYO1E 100.00 1 NM_004998.4 NPHS1 100.00 1 NM_004646.4 NPHS2 100.00 1 NM_014625.4 NUP107 100.00 1 NM_020401.4 NUP133 100.00 1 NM_018230.3 NUP160 100.00 1 NM_015231.3 NUP205 100.00 1 NM_015135.3 NUP85 100.00 1 NM_024844.5 NUP93 100.00 1 NM_014669.5 OCRL 100.00 1 NM_000276.4 PAX2 100.00 1 NM_000278.5 PDSS2 100.00 1 NM_020381.4 PLCE1 100.00 1 NM_016341.4 PMM2 0.00 1 NM_000303.2 / only position Chr16(GRCh38):g.8797616 87976 PTPRO 100.00 1 NM_030667.3 SGPL1 100.00 1 NM_003901.4 SLC35A1 100.00 1 NM_006416.5 TBC1D8B 100.00 1 NM_017752.3 TRPC6 100.00 1 NM_004621.6 TTC21B 100.00 1 NM_024753.5 TTR 100.00 1 NM_000371.4 UMOD 100.00 1 NM_003361.4 WDR73 100.00 1 NM_032856.5 WT1 100.00 1 NM_024426.6 GON7 100.00 1 NM_032490.5 ITGA3 100.00 1 NM_002204.4 KIRREL1 100.00 1 NM_018240.7 LAGE3 100.00 1 NM_006014.5 LAMA5 100.00 1 NM_005560.6 NOS1AP 100.00 1 NM_014697.3 OSGEP 100.00 1 NM_017807.4 PODXL 94.00 1 NM_001018111.3 SARS2 100.00 1 NM_017827.4 SMARCAL1 100.00 1 NM_014140.4 TP53RK 100.00 1 NM_033550.4 TPRKB 100.00 1 NM_016058.5 WDR4 100.00 1 NM_018669.6 XPO5 100.00 1 NM_020750.3 YRDC 100.00 1 NM_024640.4 -
Panel Nephro-ULG-V1
Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments ACE 97.24 0 , ACTG2 100.00 0 , ACTN4 100.00 0 , ADAMTS13 96.63 0 , ADAMTS9 100.00 0 , ADCY10 100.00 0 , AGT 100.00 0 , AGTR1 100.00 0 , AGXT 100.00 0 , ALDOB 100.00 0 , ALG5 100.00 0 , ALG8 100.00 0 , ALG9 99.28 0 , ALMS1 100.00 0 , ALPL 100.00 0 , AMN 86.23 0 , ANKS6 91.46 0 , ANLN 100.00 0 , ANOS1 94.70 0 , AP2S1 100.00 0 , APOA1 100.00 0 , APOL1 100.00 0 , APRT 100.00 0 , AQP2 100.00 0 , ARHGAP24 99.80 0 , ARHGDIA 100.00 0 , ARL6 100.00 0 , ATP6V0A4 100.00 0 , ATP6V1B1 100.00 0 , ATP7B 100.00 0 , ATXN10 99.92 0 , AVIL 100.00 0 , AVPR2 100.00 0 , B2M 100.00 0 , B9D1 100.00 0 , B9D2 100.00 0 , BBIP1 100.00 0 , BBS1 100.00 0 , BBS10 100.00 0 , BBS12 100.00 0 , BBS2 100.00 0 , BBS4 100.00 0 , BBS5 100.00 0 , BBS7 100.00 0 , BBS9 100.00 0 , BICC1 99.81 0 , BMP4 100.00 0 , BMP7 100.00 0 , BNC2 100.00 0 , BSND 100.00 0 , C3 100.00 0 , CA2 100.00 0 , CASR 100.00 0 , CC2D2A 100.00 0 , CD151 100.00 0 , CD2AP 100.00 0 , CD46 100.00 0 , CDC5L 100.00 0 , CDC73 100.00 0 , CENPF 100.00 0 , CEP164 100.00 0 , CEP290 99.95 0 , CEP41 100.00 0 , CEP55 100.00 0 , CEP83 100.00 0 , CFB 100.00 0 , CFH 100.00 0 , CFHR1 95.06 0 , CFHR3 99.44 0 , CFHR5 100.00 0 , CFI 100.00 0 , CHD1L 99.95 0 , CHD7 100.00 0 , CHRM3 100.00 0 , CHRNA3 99.35 0 , CLCN5 100.00 0 , CLCNKA 100.00 0 , CLCNKB 100.00 0 , CLDN10 100.00 0 , CLDN16 100.00 0 , CLDN19 100.00 0 , CNNM2 99.42 0 , COL4A1 99.52 0 , COL4A3 99.47 0 , COL4A4 100.00 0 , COL4A5 99.90 0 , COL4A6 99.82 0 , COQ2 95.50 0 , COQ6 100.00 0 , COQ8A 100.00 0 , COQ8B 100.00 0 , CRB2 94.59 0 , CSPP1 100.00 0 , CTNS 100.00 0 , CTU2 98.44 0 , CUBN 100.00 0 , CUL3 100.00 0 , CYP24A1 100.00 0 , DAAM2 100.00 0 , DCDC2 100.00 0 , DGKE 100.00 0 , DHCR7 99.99 0 , DIS3L2 100.00 0 , DMP1 100.00 0 , DNAJB11 100.00 0 , DSTYK 100.00 0 , DYNC2H1 99.97 0 , DZIP1L 100.00 0 , EGF 100.00 0 , EGFR 99.63 0 , EHHADH 100.00 0 , EMP2 100.00 0 , EYA1 100.00 0 , FAH 100.00 0 , FAM20A 99.78 0 , CCNQ 82.12 0 , FAN1 100.00 0 , FAT1 100.00 0 , FGA 100.00 0 , FGF20 99.13 0 , FGF23 100.00 0 , FH 100.00 0 , FLCN 100.00 0 , FN1 99.98 0 , FRAS1 100.00 0 , FREM1 100.00 0 , FREM2 100.00 0 , FXYD2 100.00 0 , G6PC1 100.00 0 , GALT 100.00 0 , GANAB 100.00 0 , GATA3 100.00 0 , GATM 100.00 0 , GLA 100.00 0 , GLI3 100.00 0 , GLIS2 100.00 0 , GNA11 99.87 0 , GPC3 99.84 0 , GREB1L 100.00 0 , GRHPR 100.00 0 , GRIP1 100.00 0 , GSN 100.00 0 , HAAO 100.00 0 , HNF1B 100.00 0 , HNF4A 100.00 0 , HOGA1 100.00 0 , HOXA13 71.26 0 , HPRT1 97.10 0 , HPSE2 100.00 0 , HSD11B2 78.40 0 , IFT122 100.00 0 , IFT140 99.96 0 , IFT172 100.00 0 , IFT27 100.00 0 , IFT80 100.00 0 , INF2 99.98 0 , INVS 100.00 0 , IQCB1 100.00 0 , ITGA3 99.70 0 , ITGA8 99.76 0 , JAG1 99.83 0 , KANK1 100.00 0 , KANK2 100.00 0 , KANK4 100.00 0 , KCNA1 100.00 0 , KCNJ1 100.00 0 , KCNJ10 100.00 0 , KCNJ16 100.00 0 , KDM6A 99.90 0 , KL 95.50 0 , KLHL3 100.00 0 , KMT2D 100.00 0 , KYNU 99.98 0 , LAMA5 98.59 0 , LAMB2 100.00 0 , LIFR 100.00 0 , LMX1B 100.00 0 , LRIG2 99.95 0 , LRP2 100.00 0 , LRP4 99.14 0 , LRP5 97.83 0 , LRP6 100.00 0 , LYZ 100.00 0 , LZTFL1 100.00 0 , MAGED2 99.94 0 , MAGI2 93.63 0 , MAPKBP1 100.00 0 , MET 100.00 0 , MKKS 100.00 0 , MKS1 100.00 0 , MMACHC 100.00 0 , MUC1 100.00 0 , MYH9 100.00 0 , MYO1E 100.00 0 , MYOCD 100.00 0 , NADSYN1 100.00 0 , NEK8 100.00 0 , NIPBL 100.00 0 , NOTCH2 100.00 0 , NPHP1 100.00 0 , NPHP3 99.73 0 , NPHP4 100.00 0 , NPHS1 100.00 0 , NPHS2 100.00 0 , NR3C2 100.00 0 , NRIP1 100.00 0 , NUP107 100.00 0 , NUP133 100.00 0 , NUP160 100.00 0 , NUP205 100.00 0 , NUP85 100.00 0 , NUP93 100.00 0 , NXF5 0.00 0 , OCRL 99.96 0 , OFD1 100.00 0 , PAX2 100.00 0 , PBX1 100.00 0 , PCBD1 92.70 0 , PDE6D 100.00 0 , PDSS2 100.00 0 , PHEX 98.98 0 , PKD1 96.86 0 , PKD2 92.32 0 , PKHD1 100.00 0 , PLCE1 100.00 0 , PLG 100.00 0 , PLVAP 100.00 0 , PMM2 100.00 0 , PODXL 90.59 0 , PRKCSH 100.00 0 , PTPRO 100.00 0 , REN 100.00 0 , RET 99.35 0 , ROBO1 100.00 0 , ROBO2 100.00 0 , ROR2 98.01 0 , RPGRIP1L 99.18 0 , RRAGD 99.90 0 , RRM2B 100.00 0 , SALL1 100.00 0 , SARS2 100.00 0 , SCARB2 100.00 0 , SCNN1A 100.00 0 , SCNN1B 100.00 0 , SCNN1G 100.00 0 , SDCCAG8 100.00 0 , SDHB 100.00 0 , SDHD 100.00 0 , SEC61A1 100.00 0 , SEC63 99.95 0 , SGPL1 99.92 0 , SIX1 100.00 0 , SIX2 100.00 0 , SIX5 93.51 0 , SLC12A1 100.00 0 , SLC12A3 100.00 0 , SLC1A1 100.00 0 , SLC22A12 100.00 0 , SLC26A1 100.00 0 , SLC26A3 100.00 0 , SLC2A2 100.00 0 , SLC2A9 100.00 0 , SLC34A1 100.00 0 , SLC34A3 100.00 0 , SLC3A1 100.00 0 , SLC41A1 100.00 0 , SLC4A1 100.00 0 , SLC4A4 100.00 0 , SLC5A2 100.00 0 , SLC6A19 100.00 0 , SLC7A7 100.00 0 , SLC7A9 100.00 0 , NHERF1 100.00 0 , SLIT2 99.95 0 , SMARCAL1 100.00 0 , SOX17 99.26 0 , STRA6 100.00 0 , STX16 100.00 0 , TBC1D1 100.00 0 , TBC1D8B 100.00 0 , TBX18 99.84 0 , TCTN2 100.00 0 , TCTN3 100.00 0 , TFAP2A 100.00 0 , THBD 100.00 0 , TMEM138 100.00 0 , TMEM216 100.00 0 , TMEM231 100.00 0 , TMEM237 100.00 0 , TMEM260 97.92 0 , TMEM67 100.00 0 , TRAP1 95.57 0 , TRIM32 100.00 0 , TRIM8 100.00 0 , TRPC6 100.00 0 , TRPM6 100.00 0 , TSC1 100.00 0 , TSC2 100.00 0 , TTC21B 50.00 0 , TTC8 100.00 0 , TTR 100.00 0 , TULP3 100.00 0 , UMOD 100.00 0 , UPK3A 100.00 0 , VHL 100.00 0 , VIPAS39 100.00 0 , VPS33B 100.00 0 , WBP11 100.00 0 , WDPCP 100.00 0 , WDR19 100.00 0 , WDR35 100.00 0 , WDR73 100.00 0 , WNK1 100.00 0 , WNK4 100.00 0 , WNT4 93.15 0 , WNT5A 88.79 0 , WT1 95.16 0 , XDH 100.00 0 , XPNPEP3 100.00 0 , XPO5 99.80 0 , ZIC3 100.00 0 , ZMYM2 99.97 0 , ZNF423 100.00 0 , -
mitochondrial disease, nuclear based (343 genes) - VUB
Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments AARS2 100.00 0 No comment ABAT 100.00 0 No comment ABCB7 100.00 0 No comment ACAD9 100.00 0 No comment ACO2 100.00 0 No comment ADPRS 99.18 0 No comment AFG3L2 95.05 0 No comment AGK 100.00 0 No comment AIFM1 100.00 0 No comment ALDH1B1 100.00 0 No comment ANO10 100.00 0 No comment APTX 100.00 0 No comment ATAD3A 98.67 0 No comment ATAD3B 98.52 0 No comment ATAD3C 97.28 0 No comment ATL1 100.00 0 No comment ATL3 100.00 0 No comment ATP5F1A 100.00 0 No comment ATP5F1B 100.00 0 No comment ATP5F1C 100.00 0 No comment ATP5F1D 86.59 0 No comment ATP5F1E 100.00 0 No comment ATP5IF1 100.00 0 No comment ATP5MC1 100.00 0 No comment ATP5MC2 100.00 0 No comment ATP5MC3 100.00 0 No comment ATP5MK 100.00 0 No comment ATP5ME 100.00 0 No comment ATP5MF 100.00 0 No comment ATP5MG 100.00 0 No comment ATP5MGL 100.00 0 No comment ATP5PB 99.84 0 No comment ATP5PD 99.81 0 No comment ATP5PF 100.00 0 No comment ATP5PO 100.00 0 No comment ATPAF1 81.57 0 No comment ATPAF2 100.00 0 No comment BCS1L 100.00 0 No comment BOLA1 100.00 0 No comment BOLA2 100.00 0 No comment BOLA3 84.43 0 No comment MTRFR 100.00 0 No comment C19ORF12 100.00 0 No comment C1QBP 97.23 0 No comment CARS2 95.42 0 No comment CEP89 100.00 0 No comment CHCHD10 97.45 0 No comment CHKB 99.69 0 No comment CLPB 100.00 0 No comment CLPP 100.00 0 No comment COA1 100.00 0 No comment COA3 100.00 0 No comment COA5 100.00 0 No comment COA6 100.00 0 No comment COA7 100.00 0 No comment COA8 100.00 0 No comment COASY 100.00 0 No comment COQ2 97.15 0 No comment COQ4 100.00 0 No comment COQ6 100.00 0 No comment COQ7 100.00 0 No comment COQ8A 100.00 0 No comment COQ8B 90.08 0 No comment COQ9 99.99 0 No comment COX10 100.00 0 No comment COX14 100.00 0 No comment COX15 100.00 0 No comment COX20 98.72 0 No comment COX4I1 100.00 0 No comment COX4I2 100.00 0 No comment COX5A 97.33 0 No comment COX5B 100.00 0 No comment COX6A1 100.00 0 No comment COX6A2 100.00 0 No comment COX6B1 100.00 0 No comment COX6B2 100.00 0 No comment COX6C 100.00 0 No comment COX7A1 100.00 0 No comment COX7A2 100.00 0 No comment COX7A2L 100.00 0 No comment COX7B 99.88 0 No comment COX7B2 100.00 0 No comment COX7C 100.00 0 No comment COX8A 100.00 0 No comment COX8C 98.71 0 No comment CYC1 88.46 0 No comment CYCS 100.00 0 No comment DARS2 100.00 0 No comment DDHD1 98.94 0 No comment DES 100.00 0 No comment DGUOK 100.00 0 No comment DHTKD1 99.98 0 No comment DLAT 100.00 0 No comment DLD 100.00 0 No comment DLST 100.00 0 No comment DMAC2L 100.00 0 No comment DNA2 100.00 0 No comment DNAJC19 100.00 0 No comment DNAJC3 100.00 0 No comment DNM1L 100.00 0 No comment EARS2 100.00 0 No comment ECHS1 99.99 0 No comment ECSIT 100.00 0 No comment ELAC2 99.99 0 No comment ETHE1 99.88 0 No comment FARS2 100.00 0 No comment FASTKD2 100.00 0 No comment FBXL4 100.00 0 No comment FDX2 100.00 0 No comment FDXR 100.00 0 No comment FH 100.00 0 No comment FOXRED1 100.00 0 No comment FXN 89.89 0 No comment GARS1 99.53 0 No comment GATB 100.00 0 No comment GATC 100.00 0 No comment GATM 99.26 0 No comment GFER 97.55 0 No comment GFM1 100.00 0 No comment GFM2 100.00 0 No comment GLRX5 84.06 0 No comment GLUD1 99.45 0 No comment GTPBP3 100.00 0 No comment HARS2 100.00 0 No comment HCCS 100.00 0 No comment HIBCH 100.00 0 No comment HLCS 100.00 0 No comment HSD17B10 100.00 0 No comment HSPA9 100.00 0 No comment HSPD1 99.53 0 No comment HTRA2 100.00 0 No comment IARS2 100.00 0 No comment IBA57 87.89 0 No comment ISCA1 99.77 0 No comment ISCA2 100.00 0 No comment ISCU 99.39 0 No comment KARS1 100.00 0 No comment LACTB 91.87 0 No comment LARS2 100.00 0 No comment LIAS 100.00 0 No comment LIPT1 100.00 0 No comment LIPT2 94.78 0 No comment LONP1 99.83 0 No comment LRPPRC 99.14 0 No comment LYRM4 68.80 0 No comment LYRM7 100.00 0 No comment MARS2 100.00 0 No comment MCUR1 79.55 0 No comment MDH2 98.91 0 No comment MFF 100.00 0 No comment MFN2 100.00 0 No comment MGME1 100.00 0 No comment MICOS13 100.00 0 No comment MICU1 100.00 0 No comment MIEF2 100.00 0 No comment MMUT 100.00 0 No comment MPC1 100.00 0 No comment MPV17 100.00 0 No comment MRM2 99.91 0 No comment MRM3 100.00 0 No comment MRPL12 92.58 0 No comment MRPL3 100.00 0 No comment MRPL44 100.00 0 No comment MRPL57 100.00 0 No comment MRPS14 100.00 0 No comment MRPS16 100.00 0 No comment MRPS2 98.34 0 No comment MRPS22 100.00 0 No comment MRPS34 97.33 0 No comment MRPS7 100.00 0 No comment MRRF 100.00 0 No comment MSTO1 100.00 0 No comment MTFMT 99.11 0 No comment MTO1 95.75 0 No comment MTPAP 100.00 0 No comment NADK2 90.73 0 No comment NARS2 100.00 0 No comment NAXE 99.78 0 No comment NDUFA1 100.00 0 No comment NDUFA10 95.87 0 No comment NDUFA11 98.06 0 No comment NDUFA12 100.00 0 No comment NDUFA13 100.00 0 No comment NDUFA2 100.00 0 No comment NDUFA3 100.00 0 No comment NDUFA4 99.68 0 No comment NDUFA5 87.27 0 No comment NDUFA6 100.00 0 No comment NDUFA7 100.00 0 No comment NDUFA8 100.00 0 No comment NDUFA9 100.00 0 No comment NDUFAB1 100.00 0 No comment NDUFAF1 100.00 0 No comment NDUFAF2 100.00 0 No comment NDUFAF3 100.00 0 No comment NDUFAF4 100.00 0 No comment NDUFAF5 100.00 0 No comment NDUFAF6 93.73 0 No comment NDUFAF7 100.00 0 No comment NDUFB1 100.00 0 No comment NDUFB10 100.00 0 No comment NDUFB11 99.52 0 No comment NDUFB2 100.00 0 No comment NDUFB3 100.00 0 No comment NDUFB4 99.85 0 No comment NDUFB5 100.00 0 No comment NDUFB6 100.00 0 No comment NDUFB7 100.00 0 No comment NDUFB8 100.00 0 No comment NDUFB9 100.00 0 No comment NDUFC1 100.00 0 No comment NDUFC2 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 NDUFS5 99.18 0 No comment NDUFS6 100.00 0 No comment NDUFS7 99.49 0 No comment NDUFS8 100.00 0 No comment NDUFV1 100.00 0 No comment NDUFV2 100.00 0 No comment NDUFV3 99.46 0 No comment NFS1 93.58 0 No comment NFU1 99.75 0 No comment NSUN3 100.00 0 No comment NUBPL 100.00 0 No comment OGDH 100.00 0 No comment MED12 100.00 0 No comment OPA3 100.00 0 No comment OXA1L 100.00 0 No comment PANK2 98.60 0 No comment PARS2 100.00 0 No comment PODXL 100.00 0 No comment PDHA1 98.17 0 No comment PDHB 100.00 0 No comment PDHX 99.87 0 No comment PDK1 99.19 0 No comment PDK2 100.00 0 No comment PDK3 99.76 0 No comment PDK4 100.00 0 No comment PDP1 100.00 0 No comment PDSS1 86.24 0 No comment PDSS2 100.00 0 No comment PET100 100.00 0 No comment PET117 100.00 0 No comment PIGA 100.00 0 No comment PINK1 92.83 0 No comment PISD 100.00 0 No comment PITRM1 100.00 0 No comment PMPCA 100.00 0 No comment PNPT1 100.00 0 No comment POLG 100.00 0 No comment POLG2 100.00 0 No comment POLR3A 100.00 0 No comment PPA2 99.97 0 No comment PTRH2 100.00 0 No comment PUS1 99.08 0 No comment PYCR1 100.00 0 No comment PYCR2 100.00 0 No comment QRSL1 100.00 0 No comment RARS2 100.00 0 No comment REEP1 97.37 0 No comment RMND1 100.00 0 No comment RNASEH1 100.00 0 No comment RRM2B 100.00 0 No comment SARS2 100.00 0 No comment SCO1 100.00 0 No comment SCO2 100.00 0 No comment SDHA 98.02 0 No comment SDHAF1 96.03 0 No comment SDHB 100.00 0 No comment SDHD 80.22 0 No comment SERAC1 100.00 0 No comment SFXN4 100.00 0 No comment SLC19A2 99.50 0 No comment SLC19A3 100.00 0 No comment SLC25A1 93.77 0 No comment SLC25A12 100.00 0 No comment SLC25A13 99.94 0 No comment SLC25A19 100.00 0 No comment SLC25A22 100.00 0 No comment SLC25A24 99.82 0 No comment SLC25A3 100.00 0 No comment SLC25A32 100.00 0 No comment SLC25A4 99.09 0 No comment SLC25A46 100.00 0 No comment SLC25A5 98.36 0 No comment SLC25A6 100.00 0 No comment SLC39A8 97.00 0 No comment SPART 100.00 0 No comment SPAST 100.00 0 No comment AFG2A 100.00 0 No comment SPG7 96.56 0 No comment SQSTM1 93.68 0 No comment STXBP1 100.00 0 No comment SUCLA2 100.00 0 No comment SUCLG1 95.74 0 No comment SUCLG2 99.95 0 No comment SURF1 87.74 0 No comment TACO1 99.90 0 No comment TANGO2 100.00 0 No comment TARS2 100.00 0 No comment WWTR1 99.81 0 No comment THG1L 100.00 0 No comment TIMM44 99.93 0 No comment TIMM50 100.00 0 No comment TIMM8A 100.00 0 No comment TIMMDC1 100.00 0 No comment TK2 95.90 0 No comment TMEM126A 100.00 0 No comment TMEM126B 100.00 0 No comment TMEM70 100.00 0 No comment TPK1 100.00 0 No comment TRIAP1 100.00 0 No comment TRIT1 100.00 0 No comment TRMT10C 100.00 0 No comment TRMT5 100.00 0 No comment TRMU 100.00 0 No comment TRNT1 100.00 0 No comment TSFM 93.22 0 No comment TTC19 85.12 0 No comment TUFM 100.00 0 No comment TWNK 100.00 0 No comment TXN2 100.00 0 No comment TYMP 91.72 0 No comment UBA52 100.00 0 No comment UQCC1 100.00 0 No comment UQCC2 100.00 0 No comment UQCC3 100.00 0 No comment UQCR10 100.00 0 No comment UQCR11 100.00 0 No comment UQCRB 100.00 0 No comment UQCRC1 99.82 0 No comment UQCRC2 100.00 0 No comment UQCRFS1 98.87 0 No comment UQCRH 100.00 0 No comment UQCRQ 100.00 0 No comment VARS2 100.00 0 No comment VPS13D 100.00 0 No comment WARS2 100.00 0 No comment YARS2 100.00 0 No comment YME1L1 100.00 0 No comment