Belgian Genetic Tests database- Analytes
- POMC
POMC
| Name: |
proopiomelanocortin
|
| Symbol: |
POMC
|
| Version of Orphanet: |
2023-06-22 14:14:43
|
| Synonyms: |
ACTH
CLIP
LPH
MSH
NPP
POC
adrenocorticotropic hormone
adrenocorticotropin
alpha-melanocyte stimulating hormone
beta-endorphin
beta-lipotropin
beta-melanocyte stimulating hormone
opiomelanocortin prepropeptide
|
| XREF(s): | |
| Created: |
13 May 2019 - 01:01
|
| Changed: |
22 Jun 2023 - 16:14
|
-
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 -
Early-onset severe obesity (44 genes) - ULG
Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments ADCY3 100.00 0 only for coding exons and intronic borders +/-14pb ALMS1 100.00 0 only for coding exons and intronic borders +/-14pb BBS1 100.00 0 only for coding exons and intronic borders +/-14pb BBS2 100.00 0 only for coding exons and intronic borders +/-14pb ARL6 100.00 0 only for coding exons and intronic borders +/-14pb BBS4 100.00 0 only for coding exons and intronic borders +/-14pb BBS5 100.00 0 only for coding exons and intronic borders +/-14pb MKKS 100.00 0 only for coding exons and intronic borders +/-14pb BBS7 100.00 0 only for coding exons and intronic borders +/-14pb TTC8 100.00 0 only for coding exons and intronic borders +/-14pb BBS9 99.99 0 only for coding exons and intronic borders +/-14pb BBS10 100.00 0 only for coding exons and intronic borders +/-14pb TRIM32 100.00 0 only for coding exons and intronic borders +/-14pb BBS12 100.00 0 only for coding exons and intronic borders +/-14pb MKS1 100.00 0 only for coding exons and intronic borders +/-14pb CEP290 99.99 0 only for coding exons and intronic borders +/-14pb WDPCP 100.00 0 only for coding exons and intronic borders +/-14pb SDCCAG8 100.00 0 only for coding exons and intronic borders +/-14pb LZTFL1 100.00 0 only for coding exons and intronic borders +/-14pb BBIP1 100.00 0 only for coding exons and intronic borders +/-14pb IFT27 100.00 0 only for coding exons and intronic borders +/-14pb BDNF 100.00 0 only for coding exons and intronic borders +/-14pb CREBBP 99.99 0 only for coding exons and intronic borders +/-14pb EP300 99.99 0 only for coding exons and intronic borders +/-14pb GNAS 99.34 0 only for coding exons and intronic borders +/-14pb INPP5E 97.02 0 only for coding exons and intronic borders +/-14pb LEP 100.00 1 only for coding exons and intronic borders +/-14pb LEPR 99.99 1 only for coding exons and intronic borders +/-14pb MAGEL2 99.54 0 only for coding exons and intronic borders +/-14pb MC3R 100.00 1 only for coding exons and intronic borders +/-14pb MC4R 100.00 1 only for coding exons and intronic borders +/-14pb MYT1L 100.00 0 only for coding exons and intronic borders +/-14pb NTRK2 100.00 0 only for coding exons and intronic borders +/-14pb PCSK1 99.99 0 only for coding exons and intronic borders +/-14pb PHF6 99.98 0 only for coding exons and intronic borders +/-14pb POMC 99.97 1 only for coding exons and intronic borders +/-14pb RAB23 100.00 0 only for coding exons and intronic borders +/-14pb SETD2 100.00 0 only for coding exons and intronic borders +/-14pb SH2B1 100.00 1 only for coding exons and intronic borders +/-14pb SIM1 100.00 1 only for coding exons and intronic borders +/-14pb TBX3 98.58 0 only for coding exons and intronic borders +/-14pb TUB 100.00 0 only for coding exons and intronic borders +/-14pb DYRK1B 99.94 0 only for coding exons and intronic borders +/-14pb MRAP2 100.00 0 only for coding exons and intronic borders +/-14pb -
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 -
Neurodevelopmental disorders (1300 genes) - ULB
Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments A2ML1 100.00 0 Neurodevelopmental disorders ABCC6 99.95 0 Neurodevelopmental disorders ABCC9 99.93 0 Neurodevelopmental disorders ABCD1 97.56 0 Neurodevelopmental disorders ABCD4 100.00 0 Neurodevelopmental disorders ABCG5 99.99 0 Neurodevelopmental disorders ABHD5 99.85 0 Neurodevelopmental disorders ABI2 100.00 0 Neurodevelopmental disorders ACAD9 100.00 0 Neurodevelopmental disorders ACAT1 93.45 0 Neurodevelopmental disorders ACO2 100.00 0 Neurodevelopmental disorders ACOX1 100.00 0 Neurodevelopmental disorders ACSF3 99.86 0 Neurodevelopmental disorders ACSL4 99.98 0 Neurodevelopmental disorders ACTB 100.00 0 Neurodevelopmental disorders ACTG1 100.00 0 Neurodevelopmental disorders ACVR1 100.00 0 Neurodevelopmental disorders ACY1 100.00 0 Neurodevelopmental disorders ADAR 100.00 0 Neurodevelopmental disorders ADAT3 99.45 0 Neurodevelopmental disorders COQ8A 99.92 0 Neurodevelopmental disorders ADCY5 99.17 0 Neurodevelopmental disorders ADK 100.00 0 Neurodevelopmental disorders ADNP 100.00 0 Neurodevelopmental disorders ADORA1 100.00 0 Neurodevelopmental disorders ADRA2B 100.00 0 Neurodevelopmental disorders ADSL 100.00 0 Neurodevelopmental disorders AFF2 99.91 0 Neurodevelopmental disorders AFF3 100.00 0 Neurodevelopmental disorders AFP 100.00 0 Neurodevelopmental disorders AGA 100.00 0 Neurodevelopmental disorders AGAP2 98.60 0 Neurodevelopmental disorders AGBL4 100.00 0 Neurodevelopmental disorders AGL 100.00 0 Neurodevelopmental disorders AGPAT2 93.10 0 Neurodevelopmental disorders AGXT 100.00 0 Neurodevelopmental disorders AGTR2 100.00 0 Neurodevelopmental disorders AHCY 100.00 0 Neurodevelopmental disorders AHDC1 99.99 0 Neurodevelopmental disorders AHI1 100.00 0 Neurodevelopmental disorders AIFM1 99.98 0 Neurodevelopmental disorders AIMP1 99.97 0 Neurodevelopmental disorders AIMP2 96.68 0 Neurodevelopmental disorders AK1 100.00 0 Neurodevelopmental disorders AKT1 100.00 0 Neurodevelopmental disorders AKT3 100.00 0 Neurodevelopmental disorders ALDH18A1 100.00 0 Neurodevelopmental disorders ALDH3A2 99.94 0 Neurodevelopmental disorders ALDH4A1 96.50 0 Neurodevelopmental disorders ALDH5A1 84.13 0 Neurodevelopmental disorders ALG1 78.28 0 Neurodevelopmental disorders ALG11 100.00 0 Neurodevelopmental disorders ALG12 100.00 0 Neurodevelopmental disorders ALG13 99.53 0 Neurodevelopmental disorders ALG2 99.83 0 Neurodevelopmental disorders ALG3 93.20 0 Neurodevelopmental disorders ALG6 100.00 0 Neurodevelopmental disorders ALG9 98.18 0 Neurodevelopmental disorders ALX1 100.00 0 Neurodevelopmental disorders ALX4 98.04 0 Neurodevelopmental disorders AMER1 99.97 0 Neurodevelopmental disorders AMPD2 99.90 0 Neurodevelopmental disorders AMT 100.00 0 Neurodevelopmental disorders ANK2 99.99 0 Neurodevelopmental disorders ANK3 100.00 0 Neurodevelopmental disorders ANKH 100.00 0 Neurodevelopmental disorders ANKRD11 100.00 0 Neurodevelopmental disorders ANO10 100.00 0 Neurodevelopmental disorders ANO3 100.00 0 Neurodevelopmental disorders ANO5 100.00 0 Neurodevelopmental disorders ANTXR1 99.97 0 Neurodevelopmental disorders AP1S1 100.00 0 Neurodevelopmental disorders AP1S2 100.00 0 Neurodevelopmental disorders AP3B1 100.00 0 Neurodevelopmental disorders AP4B1 100.00 0 Neurodevelopmental disorders AP4E1 99.99 0 Neurodevelopmental disorders AP4M1 100.00 0 Neurodevelopmental disorders AP4S1 100.00 0 Neurodevelopmental disorders APAF1 100.00 0 Neurodevelopmental disorders APC 100.00 0 Neurodevelopmental disorders APOB 98.90 0 Neurodevelopmental disorders APTX 99.96 0 Neurodevelopmental disorders AQP7 99.59 0 Neurodevelopmental disorders AR 100.00 0 Neurodevelopmental disorders ARFGEF2 100.00 0 Neurodevelopmental disorders ARG1 100.00 0 Neurodevelopmental disorders ARHGAP11A 100.00 0 Neurodevelopmental disorders ARHGAP24 99.97 0 Neurodevelopmental disorders ARHGEF2 100.00 0 Neurodevelopmental disorders ARHGEF4 99.85 0 Neurodevelopmental disorders ARHGEF6 100.00 0 Neurodevelopmental disorders ARHGEF9 99.92 0 Neurodevelopmental disorders ARID1A 97.21 0 Neurodevelopmental disorders ARID1B 98.17 0 Neurodevelopmental disorders ARL13B 99.98 0 Neurodevelopmental disorders ARL3 99.80 0 Neurodevelopmental disorders ARL6 100.00 0 Neurodevelopmental disorders ARMC9 100.00 0 Neurodevelopmental disorders ARSL 99.92 0 Neurodevelopmental disorders ARX 88.86 0 Neurodevelopmental disorders ASH1L 100.00 0 Neurodevelopmental disorders ASL 99.96 0 Neurodevelopmental disorders ASNS 97.93 0 Neurodevelopmental disorders ASPA 100.00 0 Neurodevelopmental disorders ASPM 100.00 0 Neurodevelopmental disorders ASS1 98.12 0 Neurodevelopmental disorders ASTN2 98.47 0 Neurodevelopmental disorders ASXL1 99.93 0 Neurodevelopmental disorders ASXL3 100.00 0 Neurodevelopmental disorders ATG5 100.00 0 Neurodevelopmental disorders ATIC 97.39 0 Neurodevelopmental disorders ATL1 99.89 0 Neurodevelopmental disorders ATM 100.00 0 Neurodevelopmental disorders ATP13A2 98.30 0 Neurodevelopmental disorders ATP1A2 99.94 0 Neurodevelopmental disorders ATP2A2 100.00 0 Neurodevelopmental disorders ATP6AP2 98.57 0 Neurodevelopmental disorders ATP6V0A2 99.97 0 Neurodevelopmental disorders ATP7A 100.00 0 Neurodevelopmental disorders ATP8A2 99.91 0 Neurodevelopmental disorders ATRX 99.89 0 Neurodevelopmental disorders ATXN1 100.00 0 Neurodevelopmental disorders ATXN7 98.67 0 Neurodevelopmental disorders AUH 99.24 0 Neurodevelopmental disorders AUTS2 99.82 0 Neurodevelopmental disorders NLRP3 100.00 0 Neurodevelopmental disorders AVPR2 99.37 0 Neurodevelopmental disorders AXIN1 100.00 0 Neurodevelopmental disorders AXL 100.00 0 Neurodevelopmental disorders B3GLCT 94.30 0 Neurodevelopmental disorders B4GAT1 99.99 0 Neurodevelopmental disorders B4GALT1 100.00 0 Neurodevelopmental disorders B4GALT7 90.50 0 Neurodevelopmental disorders BBS1 100.00 0 Neurodevelopmental disorders BBS10 100.00 0 Neurodevelopmental disorders BBS12 100.00 0 Neurodevelopmental disorders BBS2 100.00 0 Neurodevelopmental disorders BBS4 99.97 0 Neurodevelopmental disorders BBS5 100.00 0 Neurodevelopmental disorders BBS7 99.99 0 Neurodevelopmental disorders BBS9 99.93 0 Neurodevelopmental disorders BCKDHA 99.90 0 Neurodevelopmental disorders BCKDHB 100.00 0 Neurodevelopmental disorders BCL11A 100.00 0 Neurodevelopmental disorders BCOR 99.79 0 Neurodevelopmental disorders BCS1L 100.00 0 Neurodevelopmental disorders BIN1 99.94 0 Neurodevelopmental disorders BIRC6 99.99 0 Neurodevelopmental disorders BLM 100.00 0 Neurodevelopmental disorders BRAF 96.83 0 Neurodevelopmental disorders BRCA2 100.00 0 Neurodevelopmental disorders BRD4 99.43 0 Neurodevelopmental disorders BRF1 93.75 0 Neurodevelopmental disorders BRIP1 100.00 0 Neurodevelopmental disorders BRWD3 99.91 0 Neurodevelopmental disorders BSCL2 100.00 0 Neurodevelopmental disorders BTD 100.00 0 Neurodevelopmental disorders BUB1B 100.00 0 Neurodevelopmental disorders TSPOAP1 99.52 0 Neurodevelopmental disorders TWNK 100.00 0 Neurodevelopmental disorders C12ORF57 100.00 0 Neurodevelopmental disorders MTRFR 100.00 0 Neurodevelopmental disorders DIPK2A 98.86 0 Neurodevelopmental disorders CPLANE1 100.00 0 Neurodevelopmental disorders CARNMT1 97.76 0 Neurodevelopmental disorders CA2 99.97 0 Neurodevelopmental disorders CA8 100.00 0 Neurodevelopmental disorders CACNA1A 99.53 0 Neurodevelopmental disorders CACNA1B 99.04 0 Neurodevelopmental disorders CACNA1C 99.97 0 Neurodevelopmental disorders CACNA1D 99.81 0 Neurodevelopmental disorders CACNA1F 99.02 0 Neurodevelopmental disorders CACNA1G 99.97 0 Neurodevelopmental disorders CACNA1H 98.10 0 Neurodevelopmental disorders CACNA2D3 99.31 0 Neurodevelopmental disorders CACNB2 100.00 0 Neurodevelopmental disorders CACNG2 100.00 0 Neurodevelopmental disorders CACNG7 99.94 0 Neurodevelopmental disorders CALM1 100.00 0 Neurodevelopmental disorders CAMTA1 99.98 0 Neurodevelopmental disorders CANT1 100.00 0 Neurodevelopmental disorders CAPN12 100.00 0 Neurodevelopmental disorders CASK 99.99 0 Neurodevelopmental disorders CBL 100.00 0 Neurodevelopmental disorders CBS 99.85 0 Neurodevelopmental disorders CC2D1A 99.45 0 Neurodevelopmental disorders CC2D2A 100.00 0 Neurodevelopmental disorders CCAR2 99.98 0 Neurodevelopmental disorders CCBE1 99.32 0 Neurodevelopmental disorders CFAP53 100.00 0 Neurodevelopmental disorders CCDC174 100.00 0 Neurodevelopmental disorders CCDC22 97.87 0 Neurodevelopmental disorders CCDC39 100.00 0 Neurodevelopmental disorders CCDC78 100.00 0 Neurodevelopmental disorders CCDC88C 99.64 0 Neurodevelopmental disorders CCNT1 100.00 0 Neurodevelopmental disorders CCSER1 100.00 0 Neurodevelopmental disorders CD163L1 99.94 0 Neurodevelopmental disorders CDC42BPB 99.67 0 Neurodevelopmental disorders CDH11 100.00 0 Neurodevelopmental disorders CDH15 94.37 0 Neurodevelopmental disorders CDK5RAP2 100.00 0 Neurodevelopmental disorders CDKL5 99.77 0 Neurodevelopmental disorders CDKN1C 85.53 0 Neurodevelopmental disorders CDON 100.00 0 Neurodevelopmental disorders CELSR1 95.69 0 Neurodevelopmental disorders CENPJ 100.00 0 Neurodevelopmental disorders CEP135 99.96 0 Neurodevelopmental disorders CEP152 100.00 0 Neurodevelopmental disorders CEP290 100.00 0 Neurodevelopmental disorders CEP41 100.00 0 Neurodevelopmental disorders CEP57 100.00 0 Neurodevelopmental disorders CHAMP1 100.00 0 Neurodevelopmental disorders CHAT 99.97 0 Neurodevelopmental disorders CHD1 100.00 0 Neurodevelopmental disorders CHD1L 99.95 0 Neurodevelopmental disorders CHD2 100.00 0 Neurodevelopmental disorders CHD3 97.53 0 Neurodevelopmental disorders CHD4 99.13 0 Neurodevelopmental disorders CHD7 100.00 0 Neurodevelopmental disorders CHD8 100.00 0 Neurodevelopmental disorders CHKB 99.75 0 Neurodevelopmental disorders CHRNA2 99.99 0 Neurodevelopmental disorders CHRNA4 94.66 0 Neurodevelopmental disorders CHRND 100.00 0 Neurodevelopmental disorders CHST11 100.00 0 Neurodevelopmental disorders CIC 99.22 0 Neurodevelopmental disorders CLCN4 100.00 0 Neurodevelopmental disorders CLCN7 95.85 0 Neurodevelopmental disorders CLCNKB 99.96 0 Neurodevelopmental disorders CLIC2 99.96 0 Neurodevelopmental disorders CLIP1 100.00 0 Neurodevelopmental disorders CLN3 100.00 0 Neurodevelopmental disorders CLN5 98.80 0 Neurodevelopmental disorders CLN6 100.00 0 Neurodevelopmental disorders CLN8 100.00 0 Neurodevelopmental disorders CLPB 99.94 0 Neurodevelopmental disorders CMIP 99.43 0 Neurodevelopmental disorders CNKSR2 99.82 0 Neurodevelopmental disorders CNOT1 99.97 0 Neurodevelopmental disorders CNOT3 100.00 0 Neurodevelopmental disorders CNOT4 100.00 0 Neurodevelopmental disorders CNOT6 100.00 0 Neurodevelopmental disorders CNTN3 100.00 0 Neurodevelopmental disorders CNTN4 100.00 0 Neurodevelopmental disorders CNTNAP2 99.10 0 Neurodevelopmental disorders COA3 100.00 0 Neurodevelopmental disorders COG1 99.01 0 Neurodevelopmental disorders COG5 99.95 0 Neurodevelopmental disorders COG6 100.00 0 Neurodevelopmental disorders COG7 100.00 0 Neurodevelopmental disorders COG8 99.96 0 Neurodevelopmental disorders COL11A1 100.00 0 Neurodevelopmental disorders COL1A2 99.33 0 Neurodevelopmental disorders COL25A1 99.96 0 Neurodevelopmental disorders COL27A1 99.65 0 Neurodevelopmental disorders COL4A1 98.48 0 Neurodevelopmental disorders COL4A2 100.00 0 Neurodevelopmental disorders CERT1 99.99 0 Neurodevelopmental disorders COLEC11 100.00 0 Neurodevelopmental disorders COPB2 99.91 0 Neurodevelopmental disorders COQ2 99.66 0 Neurodevelopmental disorders COX10 100.00 0 Neurodevelopmental disorders COX15 99.99 0 Neurodevelopmental disorders CP 100.00 0 Neurodevelopmental disorders CYP2A6 100.00 0 Neurodevelopmental disorders CYP21A2 100.00 0 Neurodevelopmental disorders CRADD 100.00 0 Neurodevelopmental disorders CRBN 100.00 0 Neurodevelopmental disorders CREB1 99.99 0 Neurodevelopmental disorders CREBBP 99.97 0 Neurodevelopmental disorders CSMD1 100.00 0 Neurodevelopmental disorders CSNK2A1 100.00 0 Neurodevelopmental disorders CSTF2T 100.00 0 Neurodevelopmental disorders CTC1 99.70 0 Neurodevelopmental disorders CTCF 100.00 0 Neurodevelopmental disorders CTDP1 92.47 0 Neurodevelopmental disorders CTNNB1 100.00 0 Neurodevelopmental disorders CTSA 99.94 0 Neurodevelopmental disorders CTSD 93.41 0 Neurodevelopmental disorders CTTNBP2 99.83 0 Neurodevelopmental disorders CUBN 100.00 0 Neurodevelopmental disorders CUL3 100.00 0 Neurodevelopmental disorders CUL4B 99.51 0 Neurodevelopmental disorders CUL5 99.99 0 Neurodevelopmental disorders CUX2 99.78 0 Neurodevelopmental disorders CYB5R3 100.00 0 Neurodevelopmental disorders CYFIP1 99.90 0 Neurodevelopmental disorders CYP27A1 99.38 0 Neurodevelopmental disorders D2HGDH 99.95 0 Neurodevelopmental disorders DAG1 100.00 0 Neurodevelopmental disorders DAGLA 99.99 0 Neurodevelopmental disorders DARS2 100.00 0 Neurodevelopmental disorders DBT 100.00 0 Neurodevelopmental disorders DCAF17 96.96 0 Neurodevelopmental disorders DCPS 100.00 0 Neurodevelopmental disorders DCX 99.94 0 Neurodevelopmental disorders DDHD2 100.00 0 Neurodevelopmental disorders DDX11 99.92 0 Neurodevelopmental disorders DDX3X 100.00 0 Neurodevelopmental disorders DEAF1 97.27 0 Neurodevelopmental disorders DHCR24 98.73 0 Neurodevelopmental disorders DHCR7 99.97 0 Neurodevelopmental disorders DHFR 91.86 0 Neurodevelopmental disorders DHTKD1 99.54 0 Neurodevelopmental disorders DHX9 100.00 0 Neurodevelopmental disorders DIAPH1 99.95 0 Neurodevelopmental disorders DIAPH3 100.00 0 Neurodevelopmental disorders DIP2A 99.87 0 Neurodevelopmental disorders DIP2B 99.66 0 Neurodevelopmental disorders DISC1 0.00 0 Neurodevelopmental disorders DKC1 99.88 0 Neurodevelopmental disorders DLD 100.00 0 Neurodevelopmental disorders DLG2 100.00 0 Neurodevelopmental disorders DLG3 99.58 0 Neurodevelopmental disorders DLG4 100.00 0 Neurodevelopmental disorders DLGAP1 99.92 0 Neurodevelopmental disorders DMD 99.96 0 Neurodevelopmental disorders DMPK 99.91 0 Neurodevelopmental disorders DNAH5 100.00 0 Neurodevelopmental disorders DNAJC19 99.65 0 Neurodevelopmental disorders DNM1 93.52 0 Neurodevelopmental disorders DNMT1 99.54 0 Neurodevelopmental disorders DNMT3A 99.73 0 Neurodevelopmental disorders DNMT3B 100.00 0 Neurodevelopmental disorders DOCK6 99.15 0 Neurodevelopmental disorders DOCK8 99.94 0 Neurodevelopmental disorders DPAGT1 100.00 0 Neurodevelopmental disorders DPF2 100.00 0 Neurodevelopmental disorders DPH1 99.97 0 Neurodevelopmental disorders DPM1 100.00 0 Neurodevelopmental disorders DPP6 99.83 0 Neurodevelopmental disorders DPYD 100.00 0 Neurodevelopmental disorders DSCAM 99.93 0 Neurodevelopmental disorders DST 100.00 0 Neurodevelopmental disorders DUSP15 83.59 0 Neurodevelopmental disorders DYM 100.00 0 Neurodevelopmental disorders DYNC1H1 99.92 0 Neurodevelopmental disorders DYRK1A 100.00 0 Neurodevelopmental disorders GLB1 100.00 0 Neurodevelopmental disorders ECM2 100.00 0 Neurodevelopmental disorders EDC3 100.00 0 Neurodevelopmental disorders EFCAB5 99.99 0 Neurodevelopmental disorders EFNB1 100.00 0 Neurodevelopmental disorders EFNB2 100.00 0 Neurodevelopmental disorders EFL1 100.00 0 Neurodevelopmental disorders EFTUD2 99.99 0 Neurodevelopmental disorders EHMT1 97.78 0 Neurodevelopmental disorders EI24 99.67 0 Neurodevelopmental disorders EIF2AK3 96.33 0 Neurodevelopmental disorders EIF2S3 100.00 0 Neurodevelopmental disorders EIF3G 100.00 0 Neurodevelopmental disorders EIF4A1 99.36 0 Neurodevelopmental disorders EIF4G1 100.00 0 Neurodevelopmental disorders ELAVL2 100.00 0 Neurodevelopmental disorders ELK1 99.85 0 Neurodevelopmental disorders ELOVL4 100.00 0 Neurodevelopmental disorders ELP2 100.00 0 Neurodevelopmental disorders EMC1 100.00 0 Neurodevelopmental disorders EML1 98.26 0 Neurodevelopmental disorders EMX2 99.97 0 Neurodevelopmental disorders EN2 99.85 0 Neurodevelopmental disorders EP300 100.00 0 Neurodevelopmental disorders EP400 100.00 0 Neurodevelopmental disorders EPB41L1 100.00 0 Neurodevelopmental disorders EPHA5 99.93 0 Neurodevelopmental disorders EPHB2 96.50 0 Neurodevelopmental disorders ERBIN 100.00 0 Neurodevelopmental disorders ERBB4 100.00 0 Neurodevelopmental disorders ERCC2 99.22 0 Neurodevelopmental disorders ERCC3 100.00 0 Neurodevelopmental disorders ERCC5 100.00 0 Neurodevelopmental disorders ERCC6 100.00 0 Neurodevelopmental disorders ERCC8 100.00 0 Neurodevelopmental disorders ERLIN2 100.00 0 Neurodevelopmental disorders ESCO2 100.00 0 Neurodevelopmental disorders ETFB 100.00 0 Neurodevelopmental disorders ETHE1 97.84 0 Neurodevelopmental disorders EXOC3L2 99.73 0 Neurodevelopmental disorders EXOSC3 100.00 0 Neurodevelopmental disorders EXT1 100.00 0 Neurodevelopmental disorders EZH2 100.00 0 Neurodevelopmental disorders EZR 100.00 0 Neurodevelopmental disorders F5 99.99 0 Neurodevelopmental disorders FAAH2 100.00 0 Neurodevelopmental disorders OTULIN 87.40 0 Neurodevelopmental disorders HYCC1 100.00 0 Neurodevelopmental disorders FAM177A1 100.00 0 Neurodevelopmental disorders FANCB 100.00 0 Neurodevelopmental disorders FANCD2 100.00 0 Neurodevelopmental disorders FANCG 99.98 0 Neurodevelopmental disorders FBLN5 100.00 0 Neurodevelopmental disorders FBN1 100.00 0 Neurodevelopmental disorders FBN2 100.00 0 Neurodevelopmental disorders FBXO31 94.11 0 Neurodevelopmental disorders FBXO33 92.42 0 Neurodevelopmental disorders FEZF2 99.95 0 Neurodevelopmental disorders FGD1 99.24 0 Neurodevelopmental disorders FGF14 100.00 0 Neurodevelopmental disorders FGFR1 99.94 0 Neurodevelopmental disorders FGFR2 100.00 0 Neurodevelopmental disorders FGFR3 99.24 0 Neurodevelopmental disorders FGG 100.00 0 Neurodevelopmental disorders FH 100.00 0 Neurodevelopmental disorders FHIT 100.00 0 Neurodevelopmental disorders FIGN 100.00 0 Neurodevelopmental disorders FKRP 100.00 0 Neurodevelopmental disorders FKTN 100.00 0 Neurodevelopmental disorders FLNA 99.75 0 Neurodevelopmental disorders FLVCR1 100.00 0 Neurodevelopmental disorders FMN2 100.00 0 Neurodevelopmental disorders FMR1 99.99 0 Neurodevelopmental disorders FOLR1 100.00 0 Neurodevelopmental disorders FOXG1 92.10 0 Neurodevelopmental disorders FOXP1 100.00 0 Neurodevelopmental disorders FOXP2 99.61 0 Neurodevelopmental disorders FOXP3 99.44 0 Neurodevelopmental disorders FRAS1 100.00 0 Neurodevelopmental disorders FRMPD4 99.90 0 Neurodevelopmental disorders FRRS1L 82.37 0 Neurodevelopmental disorders FTCD 96.32 0 Neurodevelopmental disorders FTO 100.00 0 Neurodevelopmental disorders FTSJ1 100.00 0 Neurodevelopmental disorders FUCA1 99.91 0 Neurodevelopmental disorders FXR1 99.74 0 Neurodevelopmental disorders G6PC3 100.00 0 Neurodevelopmental disorders GABRA1 100.00 0 Neurodevelopmental disorders GABRA5 100.00 0 Neurodevelopmental disorders GABRB3 100.00 0 Neurodevelopmental disorders GABRG2 91.70 0 Neurodevelopmental disorders GABRG3 99.57 0 Neurodevelopmental disorders GAD1 100.00 0 Neurodevelopmental disorders GALE 100.00 0 Neurodevelopmental disorders GALK1 99.40 0 Neurodevelopmental disorders GALNT18 100.00 0 Neurodevelopmental disorders GALT 100.00 0 Neurodevelopmental disorders GAMT 97.00 0 Neurodevelopmental disorders GAN 98.52 0 Neurodevelopmental disorders GARNL3 100.00 0 Neurodevelopmental disorders GARS1 97.89 0 Neurodevelopmental disorders GAS2 100.00 0 Neurodevelopmental disorders GATAD2B 100.00 0 Neurodevelopmental disorders GATM 98.74 0 Neurodevelopmental disorders GBA1 100.00 0 Neurodevelopmental disorders GBE1 100.00 0 Neurodevelopmental disorders GCH1 99.71 0 Neurodevelopmental disorders GCK 99.13 0 Neurodevelopmental disorders GCOM1 95.06 0 Neurodevelopmental disorders GCSH 73.97 0 Neurodevelopmental disorders GDI1 99.45 0 Neurodevelopmental disorders GFAP 100.00 0 Neurodevelopmental disorders GFM1 100.00 0 Neurodevelopmental disorders GHR 99.41 0 Neurodevelopmental disorders GIGYF1 99.99 0 Neurodevelopmental disorders GIMAP8 100.00 0 Neurodevelopmental disorders GJB1 100.00 0 Neurodevelopmental disorders GJB6 100.00 0 Neurodevelopmental disorders GJC2 96.72 0 Neurodevelopmental disorders GK 98.88 0 Neurodevelopmental disorders GLDC 97.39 0 Neurodevelopmental disorders GLI2 96.28 0 Neurodevelopmental disorders GLI3 100.00 0 Neurodevelopmental disorders GLO1 100.00 0 Neurodevelopmental disorders GLRA1 100.00 0 Neurodevelopmental disorders GLUL 100.00 0 Neurodevelopmental disorders GLYCTK 98.86 0 Neurodevelopmental disorders GM2A 100.00 0 Neurodevelopmental disorders GMPPA 100.00 0 Neurodevelopmental disorders GMPPB 100.00 0 Neurodevelopmental disorders GNAO1 100.00 0 Neurodevelopmental disorders GNAS 100.00 0 Neurodevelopmental disorders GNB1 100.00 0 Neurodevelopmental disorders GNB5 98.67 0 Neurodevelopmental disorders GNPAT 100.00 0 Neurodevelopmental disorders GNPTAB 99.91 0 Neurodevelopmental disorders GNPTG 95.92 0 Neurodevelopmental disorders GNRHR 100.00 0 Neurodevelopmental disorders GNS 100.00 0 Neurodevelopmental disorders GORASP2 99.76 0 Neurodevelopmental disorders GP1BB 44.39 0 Neurodevelopmental disorders GPC3 99.72 0 Neurodevelopmental disorders GPHN 100.00 0 Neurodevelopmental disorders GPKOW 99.98 0 Neurodevelopmental disorders GPR37 100.00 0 Neurodevelopmental disorders ADGRG1 99.99 0 Neurodevelopmental disorders GPT2 97.87 0 Neurodevelopmental disorders GRB2 100.00 0 Neurodevelopmental disorders GRIA3 99.99 0 Neurodevelopmental disorders GRIA4 100.00 0 Neurodevelopmental disorders GRID2 100.00 0 Neurodevelopmental disorders GRIK2 100.00 0 Neurodevelopmental disorders GRIN1 99.80 0 Neurodevelopmental disorders GRIN2A 100.00 0 Neurodevelopmental disorders GRIN2B 100.00 0 Neurodevelopmental disorders GRIN3B 87.60 0 Neurodevelopmental disorders GRM1 99.99 0 Neurodevelopmental disorders GSE1 99.15 0 Neurodevelopmental disorders GSPT2 99.99 0 Neurodevelopmental disorders GSS 100.00 0 Neurodevelopmental disorders GTF2H5 100.00 0 Neurodevelopmental disorders GTF2IRD1 99.04 0 Neurodevelopmental disorders GTF3C1 100.00 0 Neurodevelopmental disorders GTPBP2 99.78 0 Neurodevelopmental disorders GUSB 97.13 0 Neurodevelopmental disorders GYS2 100.00 0 Neurodevelopmental disorders HAL 99.95 0 Neurodevelopmental disorders HAX1 100.00 0 Neurodevelopmental disorders HCCS 100.00 0 Neurodevelopmental disorders HCFC1 99.85 0 Neurodevelopmental disorders HCN1 99.93 0 Neurodevelopmental disorders HDAC4 99.86 0 Neurodevelopmental disorders HDAC6 99.91 0 Neurodevelopmental disorders HDAC8 99.75 0 Neurodevelopmental disorders HDAC9 100.00 0 Neurodevelopmental disorders HECTD1 100.00 0 Neurodevelopmental disorders HECW2 100.00 0 Neurodevelopmental disorders HEPACAM 99.85 0 Neurodevelopmental disorders HERC1 100.00 0 Neurodevelopmental disorders HERC2 97.66 0 Neurodevelopmental disorders HESX1 100.00 0 Neurodevelopmental disorders HEXA 100.00 0 Neurodevelopmental disorders HEXB 99.19 0 Neurodevelopmental disorders H1-4 99.57 0 Neurodevelopmental disorders H4C2 100.00 0 Neurodevelopmental disorders HIVEP2 99.91 0 Neurodevelopmental disorders HIVEP3 100.00 0 Neurodevelopmental disorders HLCS 100.00 0 Neurodevelopmental disorders HMGA2 93.67 0 Neurodevelopmental disorders HNMT 100.00 0 Neurodevelopmental disorders HNRNPH1 100.00 0 Neurodevelopmental disorders HNRNPU 99.82 0 Neurodevelopmental disorders HNRNPUL1 99.31 0 Neurodevelopmental disorders HOXA1 100.00 0 Neurodevelopmental disorders HOXB1 100.00 0 Neurodevelopmental disorders HOXD10 100.00 0 Neurodevelopmental disorders HPD 100.00 0 Neurodevelopmental disorders HPRT1 92.71 0 Neurodevelopmental disorders HRAS 100.00 0 Neurodevelopmental disorders HSD17B10 100.00 0 Neurodevelopmental disorders HSPA4 100.00 0 Neurodevelopmental disorders HSPD1 95.18 0 Neurodevelopmental disorders HTR2A 100.00 0 Neurodevelopmental disorders HUWE1 99.95 0 Neurodevelopmental disorders IARS1 100.00 0 Neurodevelopmental disorders IDH2 93.11 0 Neurodevelopmental disorders IDS 99.88 0 Neurodevelopmental disorders IDUA 91.86 0 Neurodevelopmental disorders IER3IP1 99.44 0 Neurodevelopmental disorders IFT172 100.00 0 Neurodevelopmental disorders IGBP1 99.53 0 Neurodevelopmental disorders IGF1 100.00 0 Neurodevelopmental disorders IGF1R 100.00 0 Neurodevelopmental disorders IKBKG 96.89 0 Neurodevelopmental disorders IL1RAPL1 99.95 0 Neurodevelopmental disorders ILF2 100.00 0 Neurodevelopmental disorders INPP5E 99.14 0 Neurodevelopmental disorders INSR 96.68 0 Neurodevelopmental disorders INTU 100.00 0 Neurodevelopmental disorders IQGAP3 100.00 0 Neurodevelopmental disorders IQSEC2 98.53 0 Neurodevelopmental disorders IRS1 100.00 0 Neurodevelopmental disorders IRX5 98.24 0 Neurodevelopmental disorders CRPPA 95.50 0 Neurodevelopmental disorders ITGA7 100.00 0 Neurodevelopmental disorders ITGB3 99.17 0 Neurodevelopmental disorders ITPR1 99.99 0 Neurodevelopmental disorders ITSN1 99.99 0 Neurodevelopmental disorders JADE2 100.00 0 Neurodevelopmental disorders JAG1 99.87 0 Neurodevelopmental disorders JAM3 99.88 0 Neurodevelopmental disorders JMJD1C 100.00 0 Neurodevelopmental disorders JUP 100.00 0 Neurodevelopmental disorders KANK1 100.00 0 Neurodevelopmental disorders KANSL1 100.00 0 Neurodevelopmental disorders KAT6A 100.00 0 Neurodevelopmental disorders KAT6B 100.00 0 Neurodevelopmental disorders KATNAL2 100.00 0 Neurodevelopmental disorders KATNB1 99.90 0 Neurodevelopmental disorders KCNA1 100.00 0 Neurodevelopmental disorders KCNH1 100.00 0 Neurodevelopmental disorders KCNJ10 100.00 0 Neurodevelopmental disorders KCNJ11 100.00 0 Neurodevelopmental disorders KCNJ6 100.00 0 Neurodevelopmental disorders KCNK9 100.00 0 Neurodevelopmental disorders KCNMA1 99.93 0 Neurodevelopmental disorders KCNQ2 99.92 0 Neurodevelopmental disorders KCNQ3 98.20 0 Neurodevelopmental disorders KCNQ4 94.57 0 Neurodevelopmental disorders KCNT1 98.96 0 Neurodevelopmental disorders KCTD7 100.00 0 Neurodevelopmental disorders KDM1A 99.82 0 Neurodevelopmental disorders KDM5A 100.00 0 Neurodevelopmental disorders KDM5B 100.00 0 Neurodevelopmental disorders KDM5C 99.97 0 Neurodevelopmental disorders KDM6A 99.72 0 Neurodevelopmental disorders KDM6B 99.91 0 Neurodevelopmental disorders RUBCN 96.60 0 Neurodevelopmental disorders KIAA0753 100.00 0 Neurodevelopmental disorders WASHC4 98.56 0 Neurodevelopmental disorders KIAA1109 99.99 0 Neurodevelopmental disorders KIFBP 100.00 0 Neurodevelopmental disorders CIP2A 100.00 0 Neurodevelopmental disorders LNPK 99.88 0 Neurodevelopmental disorders NEXMIF 100.00 0 Neurodevelopmental disorders KIF11 100.00 0 Neurodevelopmental disorders KIF16B 99.96 0 Neurodevelopmental disorders KIF1A 98.74 0 Neurodevelopmental disorders KIF21A 98.54 0 Neurodevelopmental disorders KIF26B 99.95 0 Neurodevelopmental disorders KIF2A 99.97 0 Neurodevelopmental disorders KIF4A 99.86 0 Neurodevelopmental disorders KIF5A 100.00 0 Neurodevelopmental disorders KIF5C 100.00 0 Neurodevelopmental disorders KIF7 99.64 0 Neurodevelopmental disorders KIRREL3 100.00 0 Neurodevelopmental disorders KIT 99.95 0 Neurodevelopmental disorders KLC2 100.00 0 Neurodevelopmental disorders KLF7 100.00 0 Neurodevelopmental disorders KLF8 99.94 0 Neurodevelopmental disorders KMT2A 99.70 0 Neurodevelopmental disorders KMT2C 100.00 0 Neurodevelopmental disorders KMT2D 99.98 0 Neurodevelopmental disorders KMT2E 99.98 0 Neurodevelopmental disorders KPTN 100.00 0 Neurodevelopmental disorders KRAS 100.00 0 Neurodevelopmental disorders KRBOX4 100.00 0 Neurodevelopmental disorders KRT18 72.23 0 Neurodevelopmental disorders KRT24 100.00 0 Neurodevelopmental disorders KRT8 94.97 0 Neurodevelopmental disorders KYNU 100.00 0 Neurodevelopmental disorders L1CAM 99.98 0 Neurodevelopmental disorders L2HGDH 99.75 0 Neurodevelopmental disorders LAMA1 99.79 0 Neurodevelopmental disorders LAMA2 100.00 0 Neurodevelopmental disorders LAMB1 100.00 0 Neurodevelopmental disorders LAMC3 98.42 0 Neurodevelopmental disorders LAMP2 99.60 0 Neurodevelopmental disorders LARGE1 100.00 0 Neurodevelopmental disorders LARP7 100.00 0 Neurodevelopmental disorders LAS1L 99.53 0 Neurodevelopmental disorders LBR 100.00 0 Neurodevelopmental disorders LCT 100.00 0 Neurodevelopmental disorders LHX3 90.58 0 Neurodevelopmental disorders LIG4 100.00 0 Neurodevelopmental disorders LINS1 100.00 0 Neurodevelopmental disorders LMAN2L 100.00 0 Neurodevelopmental disorders LMBRD1 100.00 0 Neurodevelopmental disorders ADGRL2 99.98 0 Neurodevelopmental disorders LRP1 100.00 0 Neurodevelopmental disorders LRP2 99.71 0 Neurodevelopmental disorders LRP5 96.72 0 Neurodevelopmental disorders LRPPRC 98.80 0 Neurodevelopmental disorders LRRC7 100.00 0 Neurodevelopmental disorders LYST 100.00 0 Neurodevelopmental disorders MAGEL2 99.88 0 Neurodevelopmental disorders MAGT1 100.00 0 Neurodevelopmental disorders MAN1B1 99.81 0 Neurodevelopmental disorders MAN2B1 99.30 0 Neurodevelopmental disorders MANBA 99.49 0 Neurodevelopmental disorders MAOA 98.99 0 Neurodevelopmental disorders MAP1B 99.93 0 Neurodevelopmental disorders MAP2 100.00 0 Neurodevelopmental disorders MAP2K1 100.00 0 Neurodevelopmental disorders MAP2K2 99.99 0 Neurodevelopmental disorders MAPK1 99.88 0 Neurodevelopmental disorders MAPK3 99.96 0 Neurodevelopmental disorders MAPRE2 100.00 0 Neurodevelopmental disorders MAPT 100.00 0 Neurodevelopmental disorders MAT1A 100.00 0 Neurodevelopmental disorders MBD3 100.00 0 Neurodevelopmental disorders MBD5 100.00 0 Neurodevelopmental disorders MBTPS2 100.00 0 Neurodevelopmental disorders MCCC1 99.77 0 Neurodevelopmental disorders MCCC2 99.65 0 Neurodevelopmental disorders MCOLN1 95.75 0 Neurodevelopmental disorders MCPH1 99.70 0 Neurodevelopmental disorders MDM2 100.00 0 Neurodevelopmental disorders MECP2 96.46 0 Neurodevelopmental disorders MED12 99.02 0 Neurodevelopmental disorders MED13L 99.95 0 Neurodevelopmental disorders MED17 100.00 0 Neurodevelopmental disorders MED23 99.94 0 Neurodevelopmental disorders MED29 100.00 0 Neurodevelopmental disorders MEF2C 100.00 0 Neurodevelopmental disorders MET 100.00 0 Neurodevelopmental disorders METTL23 100.00 0 Neurodevelopmental disorders MFRP 100.00 0 Neurodevelopmental disorders MFSD8 100.00 0 Neurodevelopmental disorders MGAT2 100.00 0 Neurodevelopmental disorders MIB1 100.00 0 Neurodevelopmental disorders MID1 100.00 0 Neurodevelopmental disorders MID2 100.00 0 Neurodevelopmental disorders MIR222 100.00 0 Neurodevelopmental disorders MKKS 100.00 0 Neurodevelopmental disorders MLH1 100.00 0 Neurodevelopmental disorders MLYCD 96.09 0 Neurodevelopmental disorders MMAA 100.00 0 Neurodevelopmental disorders MMACHC 100.00 0 Neurodevelopmental disorders MMADHC 100.00 0 Neurodevelopmental disorders MMP21 97.88 0 Neurodevelopmental disorders MOCS1 99.94 0 Neurodevelopmental disorders MOCS2 100.00 0 Neurodevelopmental disorders MOGS 98.86 0 Neurodevelopmental disorders MOV10 100.00 0 Neurodevelopmental disorders MPDU1 100.00 0 Neurodevelopmental disorders MPDZ 100.00 0 Neurodevelopmental disorders MPHOSPH8 100.00 0 Neurodevelopmental disorders MPI 100.00 0 Neurodevelopmental disorders MPLKIP 100.00 0 Neurodevelopmental disorders MPZ 99.80 0 Neurodevelopmental disorders MRAP 100.00 0 Neurodevelopmental disorders MRPS22 98.08 0 Neurodevelopmental disorders MSH6 99.89 0 Neurodevelopmental disorders MST1R 100.00 0 Neurodevelopmental disorders MTFMT 97.83 0 Neurodevelopmental disorders MTHFR 100.00 0 Neurodevelopmental disorders MTHFS 94.81 0 Neurodevelopmental disorders MTM1 99.91 0 Neurodevelopmental disorders MTMR2 99.55 0 Neurodevelopmental disorders MTR 100.00 0 Neurodevelopmental disorders MTRR 100.00 0 Neurodevelopmental disorders MMUT 99.99 0 Neurodevelopmental disorders MVK 100.00 0 Neurodevelopmental disorders MYCN 99.89 0 Neurodevelopmental disorders MYH10 100.00 0 Neurodevelopmental disorders MYH7B 99.85 0 Neurodevelopmental disorders MYH9 99.99 0 Neurodevelopmental disorders MYO1E 99.57 0 Neurodevelopmental disorders MYO3A 100.00 0 Neurodevelopmental disorders MYO5A 99.67 0 Neurodevelopmental disorders MYO7A 99.88 0 Neurodevelopmental disorders MYOC 100.00 0 Neurodevelopmental disorders MYT1L 100.00 0 Neurodevelopmental disorders NAA10 96.95 0 Neurodevelopmental disorders NAA15 100.00 0 Neurodevelopmental disorders NAGA 100.00 0 Neurodevelopmental disorders NAGLU 96.69 0 Neurodevelopmental disorders NALCN 100.00 0 Neurodevelopmental disorders NANS 100.00 0 Neurodevelopmental disorders NAV2 100.00 0 Neurodevelopmental disorders NBEA 97.18 0 Neurodevelopmental disorders NBN 100.00 0 Neurodevelopmental disorders NCKAP1 100.00 0 Neurodevelopmental disorders NDE1 100.00 0 Neurodevelopmental disorders NDP 100.00 0 Neurodevelopmental disorders NDST1 100.00 0 Neurodevelopmental disorders NDUFA1 100.00 0 Neurodevelopmental disorders NDUFA10 96.45 0 Neurodevelopmental disorders NDUFA11 80.54 0 Neurodevelopmental disorders NDUFA12 100.00 0 Neurodevelopmental disorders NDUFAF5 99.96 0 Neurodevelopmental disorders NDUFS1 100.00 0 Neurodevelopmental disorders NDUFS2 100.00 0 Neurodevelopmental disorders NDUFS3 100.00 0 Neurodevelopmental disorders NDUFS4 99.96 0 Neurodevelopmental disorders NDUFS7 93.34 0 Neurodevelopmental disorders NDUFS8 100.00 0 Neurodevelopmental disorders NDUFV1 99.62 0 Neurodevelopmental disorders NEDD4L 98.66 0 Neurodevelopmental disorders NEDD9 100.00 0 Neurodevelopmental disorders NEU1 100.00 0 Neurodevelopmental disorders NF1 98.78 0 Neurodevelopmental disorders NFATC1 99.80 0 Neurodevelopmental disorders NFIA 99.95 0 Neurodevelopmental disorders NFIX 94.60 0 Neurodevelopmental disorders NGF 100.00 0 Neurodevelopmental disorders NHEJ1 100.00 0 Neurodevelopmental disorders NHP2 100.00 0 Neurodevelopmental disorders NHS 92.80 0 Neurodevelopmental disorders NIPBL 99.48 0 Neurodevelopmental disorders NKX2-1 97.73 0 Neurodevelopmental disorders NLGN1 100.00 0 Neurodevelopmental disorders NLGN3 99.95 0 Neurodevelopmental disorders NLGN4X 100.00 0 Neurodevelopmental disorders NLGN4Y 60.20 0 Neurodevelopmental disorders NOG 99.95 0 Neurodevelopmental disorders NONO 100.00 0 Neurodevelopmental disorders NOTCH3 93.46 0 Neurodevelopmental disorders NPC1 97.50 0 Neurodevelopmental disorders NPC2 100.00 0 Neurodevelopmental disorders NPHP1 100.00 0 Neurodevelopmental disorders NPHP3 99.99 0 Neurodevelopmental disorders NR2F1 99.99 0 Neurodevelopmental disorders NR3C2 99.99 0 Neurodevelopmental disorders NR4A2 100.00 0 Neurodevelopmental disorders NRAS 100.00 0 Neurodevelopmental disorders NRCAM 100.00 0 Neurodevelopmental disorders NRG3 99.55 0 Neurodevelopmental disorders NRIP1 100.00 0 Neurodevelopmental disorders NRXN1 99.87 0 Neurodevelopmental disorders NRXN2 93.76 0 Neurodevelopmental disorders NSD1 100.00 0 Neurodevelopmental disorders NSDHL 100.00 0 Neurodevelopmental disorders NSUN2 99.69 0 Neurodevelopmental disorders NTRK1 98.36 0 Neurodevelopmental disorders NTRK2 100.00 0 Neurodevelopmental disorders NUAK1 99.69 0 Neurodevelopmental disorders NXF5 98.08 0 Neurodevelopmental disorders OBSL1 99.88 0 Neurodevelopmental disorders OCA2 99.49 0 Neurodevelopmental disorders OCLN 100.00 0 Neurodevelopmental disorders OCRL 98.81 0 Neurodevelopmental disorders ODC1 100.00 0 Neurodevelopmental disorders OFD1 97.13 0 Neurodevelopmental disorders OGT 99.90 0 Neurodevelopmental disorders OPHN1 99.94 0 Neurodevelopmental disorders SLC25A15 100.00 0 Neurodevelopmental disorders OTC 99.17 0 Neurodevelopmental disorders OXTR 92.68 0 Neurodevelopmental disorders PACS1 98.26 0 Neurodevelopmental disorders PAFAH1B1 100.00 0 Neurodevelopmental disorders PAH 100.00 0 Neurodevelopmental disorders PAK3 98.75 0 Neurodevelopmental disorders PANK2 100.00 0 Neurodevelopmental disorders PARD3B 100.00 0 Neurodevelopmental disorders PARP1 100.00 0 Neurodevelopmental disorders PAX1 96.00 0 Neurodevelopmental disorders PAX5 100.00 0 Neurodevelopmental disorders PAX6 100.00 0 Neurodevelopmental disorders PAX8 99.96 0 Neurodevelopmental disorders PBRM1 100.00 0 Neurodevelopmental disorders PODXL 100.00 0 Neurodevelopmental disorders PCDH10 99.96 0 Neurodevelopmental disorders PCDH19 98.99 0 Neurodevelopmental disorders PCGF2 100.00 0 Neurodevelopmental disorders PCLO 100.00 0 Neurodevelopmental disorders PCNT 99.88 0 Neurodevelopmental disorders PDE1C 99.99 0 Neurodevelopmental disorders PDE4D 99.96 0 Neurodevelopmental disorders PDE8B 98.72 0 Neurodevelopmental disorders PDHA1 92.64 0 Neurodevelopmental disorders PDHX 100.00 0 Neurodevelopmental disorders PDSS1 85.11 0 Neurodevelopmental disorders PDSS2 100.00 0 Neurodevelopmental disorders PEPD 97.88 0 Neurodevelopmental disorders PER2 100.00 0 Neurodevelopmental disorders PEX1 100.00 0 Neurodevelopmental disorders PEX10 87.10 0 Neurodevelopmental disorders PEX11B 100.00 0 Neurodevelopmental disorders PEX12 100.00 0 Neurodevelopmental disorders PEX13 100.00 0 Neurodevelopmental disorders PEX16 99.97 0 Neurodevelopmental disorders PEX19 100.00 0 Neurodevelopmental disorders PEX2 100.00 0 Neurodevelopmental disorders PEX26 100.00 0 Neurodevelopmental disorders PEX3 100.00 0 Neurodevelopmental disorders PEX5 100.00 0 Neurodevelopmental disorders PEX6 99.74 0 Neurodevelopmental disorders PEX7 95.60 0 Neurodevelopmental disorders PGA5 100.00 0 Neurodevelopmental disorders PGAP1 100.00 0 Neurodevelopmental disorders PGAP2 100.00 0 Neurodevelopmental disorders PGAP3 98.48 0 Neurodevelopmental disorders PGK1 99.88 0 Neurodevelopmental disorders PHF2 99.95 0 Neurodevelopmental disorders PHF21A 100.00 0 Neurodevelopmental disorders PHF6 100.00 0 Neurodevelopmental disorders PHF8 100.00 0 Neurodevelopmental disorders PHGDH 100.00 0 Neurodevelopmental disorders PHIP 99.68 0 Neurodevelopmental disorders PHKA2 99.88 0 Neurodevelopmental disorders PHKG2 100.00 0 Neurodevelopmental disorders PIAS1 99.99 0 Neurodevelopmental disorders PIGG 100.00 0 Neurodevelopmental disorders PIGL 100.00 0 Neurodevelopmental disorders PIGN 100.00 0 Neurodevelopmental disorders PIGO 100.00 0 Neurodevelopmental disorders PIGS 99.99 0 Neurodevelopmental disorders PIGT 100.00 0 Neurodevelopmental disorders PIGV 100.00 0 Neurodevelopmental disorders PIGW 100.00 0 Neurodevelopmental disorders PIGY 100.00 0 Neurodevelopmental disorders PIK3R2 88.52 0 Neurodevelopmental disorders PLA2G6 100.00 0 Neurodevelopmental disorders PLCB1 100.00 0 Neurodevelopmental disorders PLP1 100.00 0 Neurodevelopmental disorders PLXNB1 100.00 0 Neurodevelopmental disorders PMM2 100.00 0 Neurodevelopmental disorders PNKP 99.84 0 Neurodevelopmental disorders PNP 100.00 0 Neurodevelopmental disorders POC1A 99.00 0 Neurodevelopmental disorders POGZ 100.00 0 Neurodevelopmental disorders POLG 100.00 0 Neurodevelopmental disorders POLR2M 100.00 0 Neurodevelopmental disorders POLR3A 100.00 0 Neurodevelopmental disorders POLR3B 100.00 0 Neurodevelopmental disorders POMC 100.00 0 Neurodevelopmental disorders POMGNT1 100.00 0 Neurodevelopmental disorders POMGNT2 100.00 0 Neurodevelopmental disorders POMT1 100.00 0 Neurodevelopmental disorders POMT2 99.53 0 Neurodevelopmental disorders PORCN 98.59 0 Neurodevelopmental disorders POT1 99.99 0 Neurodevelopmental disorders POU1F1 100.00 0 Neurodevelopmental disorders POU3F3 71.08 0 Neurodevelopmental disorders POU3F4 100.00 0 Neurodevelopmental disorders PPM1D 100.00 0 Neurodevelopmental disorders HCRT 100.00 0 Neurodevelopmental disorders PPP1CB 100.00 0 Neurodevelopmental disorders PPP1R1B 100.00 0 Neurodevelopmental disorders PPP2R1A 100.00 0 Neurodevelopmental disorders PPP2R5D 100.00 0 Neurodevelopmental disorders PPT1 100.00 0 Neurodevelopmental disorders PQBP1 99.91 0 Neurodevelopmental disorders PRICKLE1 100.00 0 Neurodevelopmental disorders PRKAR1A 100.00 0 Neurodevelopmental disorders PRKRA 99.64 0 Neurodevelopmental disorders PRMT7 100.00 0 Neurodevelopmental disorders PRODH 88.26 0 Neurodevelopmental disorders PRPS1 99.91 0 Neurodevelopmental disorders PRR12 99.99 0 Neurodevelopmental disorders PRRT2 100.00 0 Neurodevelopmental disorders PRSS12 100.00 0 Neurodevelopmental disorders PSAP 100.00 0 Neurodevelopmental disorders PSEN1 100.00 0 Neurodevelopmental disorders PTCH1 98.82 0 Neurodevelopmental disorders PTCHD1 99.78 0 Neurodevelopmental disorders PTDSS1 100.00 0 Neurodevelopmental disorders PTEN 99.45 0 Neurodevelopmental disorders PTHLH 100.00 0 Neurodevelopmental disorders PTK7 100.00 0 Neurodevelopmental disorders PTPN11 94.43 0 Neurodevelopmental disorders PUF60 99.31 0 Neurodevelopmental disorders PUM1 100.00 0 Neurodevelopmental disorders PURA 95.47 0 Neurodevelopmental disorders PUS1 100.00 0 Neurodevelopmental disorders PUS3 100.00 0 Neurodevelopmental disorders PUS7 100.00 0 Neurodevelopmental disorders NECTIN1 99.19 0 Neurodevelopmental disorders PYCR1 100.00 0 Neurodevelopmental disorders PYCR2 100.00 0 Neurodevelopmental disorders PYGL 100.00 0 Neurodevelopmental disorders QRICH1 100.00 0 Neurodevelopmental disorders RAB18 99.99 0 Neurodevelopmental disorders RAB27A 100.00 0 Neurodevelopmental disorders RAB39B 100.00 0 Neurodevelopmental disorders RAB3GAP1 100.00 0 Neurodevelopmental disorders RAB3GAP2 100.00 0 Neurodevelopmental disorders RAB40AL 99.91 0 Neurodevelopmental disorders RABL6 99.42 0 Neurodevelopmental disorders NCOA3 88.47 0 Neurodevelopmental disorders RAD21 100.00 0 Neurodevelopmental disorders RAF1 100.00 0 Neurodevelopmental disorders RAI1 93.59 0 Neurodevelopmental disorders RALGAPB 100.00 0 Neurodevelopmental disorders RALGDS 92.25 0 Neurodevelopmental disorders RANBP17 98.10 0 Neurodevelopmental disorders RAPSN 100.00 0 Neurodevelopmental disorders RARS2 100.00 0 Neurodevelopmental disorders RASGEF1B 100.00 0 Neurodevelopmental disorders RBBP8 99.97 0 Neurodevelopmental disorders RBFOX1 98.87 0 Neurodevelopmental disorders RBL2 98.63 0 Neurodevelopmental disorders RBM10 99.23 0 Neurodevelopmental disorders RBM28 98.67 0 Neurodevelopmental disorders RELN 100.00 0 Neurodevelopmental disorders RERE 99.81 0 Neurodevelopmental disorders REV3L 99.86 0 Neurodevelopmental disorders RFT1 99.87 0 Neurodevelopmental disorders RFX3 100.00 0 Neurodevelopmental disorders RFX6 100.00 0 Neurodevelopmental disorders RIC8A 99.98 0 Neurodevelopmental disorders RIMS1 100.00 0 Neurodevelopmental disorders RIT1 100.00 0 Neurodevelopmental disorders RMND1 99.49 0 Neurodevelopmental disorders RMRP 100.00 0 Neurodevelopmental disorders RNASEH2A 100.00 0 Neurodevelopmental disorders RNASEH2B 94.58 0 Neurodevelopmental disorders RNASEH2C 100.00 0 Neurodevelopmental disorders RNASET2 100.00 0 Neurodevelopmental disorders RNF125 99.99 0 Neurodevelopmental disorders RNF213 100.00 0 Neurodevelopmental disorders ROGDI 91.40 0 Neurodevelopmental disorders RP2 99.78 0 Neurodevelopmental disorders RPGRIP1L 96.40 0 Neurodevelopmental disorders RPL15 99.14 0 Neurodevelopmental disorders RPS6KA2 100.00 0 Neurodevelopmental disorders RPS6KA3 96.78 0 Neurodevelopmental disorders RRAS 97.75 0 Neurodevelopmental disorders RTEL1 100.00 0 Neurodevelopmental disorders RTN2 99.44 0 Neurodevelopmental disorders RTN4IP1 100.00 0 Neurodevelopmental disorders RUNX1 99.48 0 Neurodevelopmental disorders RUVBL1 100.00 0 Neurodevelopmental disorders RYR1 99.39 0 Neurodevelopmental disorders RYR2 100.00 0 Neurodevelopmental disorders S100G 98.92 0 Neurodevelopmental disorders SACS 99.95 0 Neurodevelopmental disorders SALL1 100.00 0 Neurodevelopmental disorders SAMHD1 100.00 0 Neurodevelopmental disorders SARDH 99.83 0 Neurodevelopmental disorders SARS2 100.00 0 Neurodevelopmental disorders SATB2 99.34 0 Neurodevelopmental disorders SBF1 98.38 0 Neurodevelopmental disorders SC5D 100.00 0 Neurodevelopmental disorders SCAPER 99.94 0 Neurodevelopmental disorders SCN1A 100.00 0 Neurodevelopmental disorders SCN2A 100.00 0 Neurodevelopmental disorders SCN7A 100.00 0 Neurodevelopmental disorders SCN8A 100.00 0 Neurodevelopmental disorders SCN9A 99.99 0 Neurodevelopmental disorders SCO2 93.85 0 Neurodevelopmental disorders SDCCAG8 100.00 0 Neurodevelopmental disorders SDHA 95.31 0 Neurodevelopmental disorders SDK1 96.50 0 Neurodevelopmental disorders SERAC1 100.00 0 Neurodevelopmental disorders SETBP1 100.00 0 Neurodevelopmental disorders SETD1A 100.00 0 Neurodevelopmental disorders SETD1B 99.89 0 Neurodevelopmental disorders SETD2 100.00 0 Neurodevelopmental disorders SETD5 100.00 0 Neurodevelopmental disorders NR5A1 87.73 0 Neurodevelopmental disorders SFPQ 99.89 0 Neurodevelopmental disorders SGCA 100.00 0 Neurodevelopmental disorders SGSH 99.85 0 Neurodevelopmental disorders SHANK1 99.69 0 Neurodevelopmental disorders SHANK2 100.00 0 Neurodevelopmental disorders SHANK3 90.31 0 Neurodevelopmental disorders SHC1 100.00 0 Neurodevelopmental disorders SHH 99.47 0 Neurodevelopmental disorders SHOC2 100.00 0 Neurodevelopmental disorders SHOX 98.69 0 Neurodevelopmental disorders SHROOM4 99.98 0 Neurodevelopmental disorders SIL1 99.95 0 Neurodevelopmental disorders SIN3A 97.83 0 Neurodevelopmental disorders SIX3 99.61 0 Neurodevelopmental disorders HHAT 92.45 0 Neurodevelopmental disorders SLC12A6 100.00 0 Neurodevelopmental disorders SLC16A2 99.97 0 Neurodevelopmental disorders SLC17A5 100.00 0 Neurodevelopmental disorders SLC1A1 100.00 0 Neurodevelopmental disorders SLC1A4 99.98 0 Neurodevelopmental disorders SLC20A2 100.00 0 Neurodevelopmental disorders SLC24A2 99.82 0 Neurodevelopmental disorders SLC25A1 98.83 0 Neurodevelopmental disorders SLC25A12 100.00 0 Neurodevelopmental disorders SLC25A13 100.00 0 Neurodevelopmental disorders SLC25A22 100.00 0 Neurodevelopmental disorders SLC25A24 99.90 0 Neurodevelopmental disorders SLC26A9 100.00 0 Neurodevelopmental disorders SLC2A1 100.00 0 Neurodevelopmental disorders SLC2A2 99.95 0 Neurodevelopmental disorders SLC33A1 100.00 0 Neurodevelopmental disorders SLC35A2 100.00 0 Neurodevelopmental disorders SLC35C1 100.00 0 Neurodevelopmental disorders SLC39A8 98.92 0 Neurodevelopmental disorders SLC46A1 99.98 0 Neurodevelopmental disorders SLC4A4 100.00 0 Neurodevelopmental disorders SLC5A2 99.99 0 Neurodevelopmental disorders SLC5A5 99.97 0 Neurodevelopmental disorders SLC6A1 100.00 0 Neurodevelopmental disorders SLC6A17 100.00 0 Neurodevelopmental disorders SLC6A3 100.00 0 Neurodevelopmental disorders SLC6A4 100.00 0 Neurodevelopmental disorders SLC6A8 99.41 0 Neurodevelopmental disorders SLC7A7 100.00 0 Neurodevelopmental disorders SLC9A6 99.66 0 Neurodevelopmental disorders SLC9A7 95.89 0 Neurodevelopmental disorders SLC9A9 100.00 0 Neurodevelopmental disorders SLCO1B1 99.89 0 Neurodevelopmental disorders SLCO1B3 99.94 0 Neurodevelopmental disorders SLX4 100.00 0 Neurodevelopmental disorders SMAD2 100.00 0 Neurodevelopmental disorders SMAD4 98.47 0 Neurodevelopmental disorders SMARCA2 98.99 0 Neurodevelopmental disorders SMARCA4 100.00 0 Neurodevelopmental disorders SMARCB1 100.00 0 Neurodevelopmental disorders SMARCC2 100.00 0 Neurodevelopmental disorders SMARCE1 98.46 0 Neurodevelopmental disorders SMC1A 99.87 0 Neurodevelopmental disorders SMC3 100.00 0 Neurodevelopmental disorders SMG6 96.90 0 Neurodevelopmental disorders SMOC1 98.05 0 Neurodevelopmental disorders SMPD1 100.00 0 Neurodevelopmental disorders SNAP29 100.00 0 Neurodevelopmental disorders SNIP1 100.00 0 Neurodevelopmental disorders SNRPA 100.00 0 Neurodevelopmental disorders SNX14 99.98 0 Neurodevelopmental disorders SNX19 99.99 0 Neurodevelopmental disorders SOBP 95.50 0 Neurodevelopmental disorders SON 100.00 0 Neurodevelopmental disorders SOS1 100.00 0 Neurodevelopmental disorders SOS2 99.96 0 Neurodevelopmental disorders SOX10 95.36 0 Neurodevelopmental disorders SOX11 100.00 0 Neurodevelopmental disorders SOX2 95.35 0 Neurodevelopmental disorders SOX3 97.06 0 Neurodevelopmental disorders SOX5 100.00 0 Neurodevelopmental disorders SPAST 99.83 0 Neurodevelopmental disorders AFG2A 99.97 0 Neurodevelopmental disorders SPG11 100.00 0 Neurodevelopmental disorders SPG7 95.78 0 Neurodevelopmental disorders SPR 99.98 0 Neurodevelopmental disorders SPRED1 100.00 0 Neurodevelopmental disorders SPTAN1 100.00 0 Neurodevelopmental disorders SPTLC1 99.27 0 Neurodevelopmental disorders SRCAP 100.00 0 Neurodevelopmental disorders SRD5A3 98.61 0 Neurodevelopmental disorders SREBF2 99.91 0 Neurodevelopmental disorders SRGAP3 100.00 0 Neurodevelopmental disorders SRPX2 99.04 0 Neurodevelopmental disorders ST3GAL3 100.00 0 Neurodevelopmental disorders ST3GAL5 90.70 0 Neurodevelopmental disorders STAG1 100.00 0 Neurodevelopmental disorders STAT5B 100.00 0 Neurodevelopmental disorders STIL 100.00 0 Neurodevelopmental disorders STRA6 100.00 0 Neurodevelopmental disorders STS 99.91 0 Neurodevelopmental disorders STT3A 100.00 0 Neurodevelopmental disorders STT3B 100.00 0 Neurodevelopmental disorders STX11 100.00 0 Neurodevelopmental disorders STXBP1 100.00 0 Neurodevelopmental disorders STXBP5 100.00 0 Neurodevelopmental disorders SUCLA2 99.86 0 Neurodevelopmental disorders SUCLG1 93.27 0 Neurodevelopmental disorders SUOX 100.00 0 Neurodevelopmental disorders SUPT16H 100.00 0 Neurodevelopmental disorders SURF1 82.91 0 Neurodevelopmental disorders KMT5B 100.00 0 Neurodevelopmental disorders SYN1 96.00 0 Neurodevelopmental disorders SYNE1 100.00 0 Neurodevelopmental disorders SYNGAP1 99.76 0 Neurodevelopmental disorders SYNM 92.93 0 Neurodevelopmental disorders SYNPO 100.00 0 Neurodevelopmental disorders SYP 97.84 0 Neurodevelopmental disorders SYT14 92.28 0 Neurodevelopmental disorders SYT3 99.96 0 Neurodevelopmental disorders TAF1 99.98 0 Neurodevelopmental disorders TAF13 100.00 0 Neurodevelopmental disorders TAF2 100.00 0 Neurodevelopmental disorders TAT 100.00 0 Neurodevelopmental disorders TBC1D24 99.99 0 Neurodevelopmental disorders TBC1D7 100.00 0 Neurodevelopmental disorders TBCE 100.00 0 Neurodevelopmental disorders TBCK 100.00 0 Neurodevelopmental disorders TBR1 99.60 0 Neurodevelopmental disorders TBX1 83.55 0 Neurodevelopmental disorders TCF20 100.00 0 Neurodevelopmental disorders TCF3 99.97 0 Neurodevelopmental disorders TCF4 100.00 0 Neurodevelopmental disorders TCF7L2 100.00 0 Neurodevelopmental disorders TDG 100.00 0 Neurodevelopmental disorders TECR 100.00 0 Neurodevelopmental disorders TELO2 98.19 0 Neurodevelopmental disorders TENM1 99.91 0 Neurodevelopmental disorders TET3 100.00 0 Neurodevelopmental disorders TFAP2A 99.96 0 Neurodevelopmental disorders TGFBR1 91.80 0 Neurodevelopmental disorders TGFBR2 100.00 0 Neurodevelopmental disorders TGIF1 100.00 0 Neurodevelopmental disorders TGM1 100.00 0 Neurodevelopmental disorders TH 98.79 0 Neurodevelopmental disorders THOC2 99.62 0 Neurodevelopmental disorders THOC6 100.00 0 Neurodevelopmental disorders THRA 100.00 0 Neurodevelopmental disorders THRB 100.00 0 Neurodevelopmental disorders THSD1 100.00 0 Neurodevelopmental disorders TIMM8A 99.00 0 Neurodevelopmental disorders TINF2 99.94 0 Neurodevelopmental disorders TMCO1 100.00 0 Neurodevelopmental disorders TMEM107 100.00 0 Neurodevelopmental disorders TMEM135 100.00 0 Neurodevelopmental disorders TMEM165 91.64 0 Neurodevelopmental disorders TMEM216 99.87 0 Neurodevelopmental disorders TMEM231 100.00 0 Neurodevelopmental disorders TMEM237 99.85 0 Neurodevelopmental disorders TMEM67 99.95 0 Neurodevelopmental disorders TMEM70 100.00 0 Neurodevelopmental disorders TMLHE 99.11 0 Neurodevelopmental disorders TNIK 100.00 0 Neurodevelopmental disorders TNK2 99.86 0 Neurodevelopmental disorders TNRC6B 99.93 0 Neurodevelopmental disorders TOPORS 100.00 0 Neurodevelopmental disorders TOR1A 99.70 0 Neurodevelopmental disorders TDO2 100.00 0 Neurodevelopmental disorders TPK1 99.99 0 Neurodevelopmental disorders THPO 99.80 0 Neurodevelopmental disorders ACD 99.99 0 Neurodevelopmental disorders TPTE 99.28 0 Neurodevelopmental disorders TRAF7 99.04 0 Neurodevelopmental disorders TRAPPC11 99.97 0 Neurodevelopmental disorders TRAPPC12 99.96 0 Neurodevelopmental disorders TRAPPC9 99.15 0 Neurodevelopmental disorders TREX1 100.00 0 Neurodevelopmental disorders TRHR 100.00 0 Neurodevelopmental disorders TRIM10 100.00 0 Neurodevelopmental disorders TRIM3 100.00 0 Neurodevelopmental disorders TRIM32 100.00 0 Neurodevelopmental disorders TRIO 98.86 0 Neurodevelopmental disorders TRIP12 100.00 0 Neurodevelopmental disorders TRMT10A 100.00 0 Neurodevelopmental disorders TRPM3 100.00 0 Neurodevelopmental disorders TRPM6 100.00 0 Neurodevelopmental disorders TRPV4 100.00 0 Neurodevelopmental disorders TRPV6 100.00 0 Neurodevelopmental disorders TSC1 100.00 0 Neurodevelopmental disorders TSC2 99.94 0 Neurodevelopmental disorders TSEN54 91.60 0 Neurodevelopmental disorders TSHR 100.00 0 Neurodevelopmental disorders TSPAN7 99.05 0 Neurodevelopmental disorders SKIC3 99.99 0 Neurodevelopmental disorders TTC8 99.73 0 Neurodevelopmental disorders TTC9 91.41 0 Neurodevelopmental disorders TTI2 100.00 0 Neurodevelopmental disorders TTN 100.00 0 Neurodevelopmental disorders TTR 100.00 0 Neurodevelopmental disorders TUBA1A 100.00 0 Neurodevelopmental disorders TUBA8 99.98 0 Neurodevelopmental disorders TUBB 100.00 0 Neurodevelopmental disorders TUBB2B 100.00 0 Neurodevelopmental disorders TUBB3 99.01 0 Neurodevelopmental disorders TUBGCP4 99.17 0 Neurodevelopmental disorders TUBGCP6 100.00 0 Neurodevelopmental disorders TUSC3 100.00 0 Neurodevelopmental disorders TWIST1 97.62 0 Neurodevelopmental disorders UBE2A 100.00 0 Neurodevelopmental disorders UBE3A 100.00 0 Neurodevelopmental disorders UBE3B 100.00 0 Neurodevelopmental disorders UBR1 100.00 0 Neurodevelopmental disorders UBTF 100.00 0 Neurodevelopmental disorders UNC50 100.00 0 Neurodevelopmental disorders UNC80 99.98 0 Neurodevelopmental disorders UPB1 100.00 0 Neurodevelopmental disorders UPF3B 99.86 0 Neurodevelopmental disorders UROC1 99.97 0 Neurodevelopmental disorders USP9X 100.00 0 Neurodevelopmental disorders UTP6 100.00 0 Neurodevelopmental disorders VCP 97.10 0 Neurodevelopmental disorders VLDLR 96.00 0 Neurodevelopmental disorders VPS13B 100.00 0 Neurodevelopmental disorders VPS39 99.94 0 Neurodevelopmental disorders VPS4A 100.00 0 Neurodevelopmental disorders VRK1 100.00 0 Neurodevelopmental disorders WAC 100.00 0 Neurodevelopmental disorders WDFY3 100.00 0 Neurodevelopmental disorders WDR11 100.00 0 Neurodevelopmental disorders WDR13 99.05 0 Neurodevelopmental disorders WDR19 100.00 0 Neurodevelopmental disorders WDR26 99.54 0 Neurodevelopmental disorders WDR4 100.00 0 Neurodevelopmental disorders WDR45 100.00 0 Neurodevelopmental disorders WDR45B 99.94 0 Neurodevelopmental disorders WDR62 100.00 0 Neurodevelopmental disorders WDR73 100.00 0 Neurodevelopmental disorders WDR81 99.63 0 Neurodevelopmental disorders NSD2 100.00 0 Neurodevelopmental disorders WNT2 100.00 0 Neurodevelopmental disorders WRN 100.00 0 Neurodevelopmental disorders WWOX 100.00 0 Neurodevelopmental disorders XPA 98.10 0 Neurodevelopmental disorders XPNPEP3 100.00 0 Neurodevelopmental disorders XPO5 100.00 0 Neurodevelopmental disorders XYLT1 89.98 0 Neurodevelopmental disorders YAP1 99.86 0 Neurodevelopmental disorders YEATS2 100.00 0 Neurodevelopmental disorders YTHDC1 99.99 0 Neurodevelopmental disorders YWHAE 91.19 0 Neurodevelopmental disorders YY1 99.76 0 Neurodevelopmental disorders ZBTB11 100.00 0 Neurodevelopmental disorders ZBTB16 100.00 0 Neurodevelopmental disorders ZBTB18 99.54 0 Neurodevelopmental disorders ZBTB20 100.00 0 Neurodevelopmental disorders ZBTB24 100.00 0 Neurodevelopmental disorders ZC3H14 99.55 0 Neurodevelopmental disorders ZC3H4 99.95 0 Neurodevelopmental disorders ZCCHC12 100.00 0 Neurodevelopmental disorders ZDHHC15 98.46 0 Neurodevelopmental disorders ZDHHC9 100.00 0 Neurodevelopmental disorders ZEB2 99.96 0 Neurodevelopmental disorders ZFHX4 100.00 0 Neurodevelopmental disorders ZFP57 100.00 0 Neurodevelopmental disorders ZFYVE26 100.00 0 Neurodevelopmental disorders ZIC2 95.66 0 Neurodevelopmental disorders ZMYM3 99.98 0 Neurodevelopmental disorders ZMYND11 100.00 0 Neurodevelopmental disorders ZPR1 100.00 0 Neurodevelopmental disorders ZNF292 100.00 0 Neurodevelopmental disorders ZNF407 100.00 0 Neurodevelopmental disorders ZNF41 100.00 0 Neurodevelopmental disorders ZNF526 100.00 0 Neurodevelopmental disorders ZNF559 100.00 0 Neurodevelopmental disorders ZNF592 100.00 0 Neurodevelopmental disorders ZNF594 100.00 0 Neurodevelopmental disorders ZNF599 99.76 0 Neurodevelopmental disorders ZNF674 100.00 0 Neurodevelopmental disorders ZNF697 99.70 0 Neurodevelopmental disorders ZNF711 99.98 0 Neurodevelopmental disorders ZNF774 100.00 0 Neurodevelopmental disorders ZNF8 100.00 0 Neurodevelopmental disorders ZNF81 99.55 0 Neurodevelopmental disorders ZNF827 100.00 0 Neurodevelopmental disorders ZNRF3 94.23 0 Neurodevelopmental disorders ZWILCH 100.00 0 Neurodevelopmental disorders -
Obesitas (genepanel) - UZA
Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments ADCY3 99.96 1 BDNF 100.00 1 LEP 99.97 1 LEPR 96.36 1 MC3R 100.00 1 MC4R 99.98 1 NR0B2 99.99 1 NTRK2 99.99 1 PCSK1 99.99 1 POMC 100.00 1 SIM1 99.97 1 UCP3 99.98 1 -
Obesitas, early onset (8 genes) - VUB
Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments MC4R 100.00 0 MC3R 100.00 0 LEP 100.00 0 LEPR 94.67 0 PCSK1 100.00 0 POMC 100.00 0 SIM1 100.00 0 NTRK2 100.00 0 -
Obesity - 13 genes - IPG
Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments ADCY3 100.00 1 no BDNF 100.00 1 no LEP 100.00 1 no LEPR 100.00 1 no MC3R 100.00 1 no MC4R 100.00 1 no NR0B2 100.00 1 no NTRK2 100.00 1 no PCSK1 100.00 1 no POMC 100.00 1 no SIM1 100.00 1 no UCP3 100.00 1 no UCP2 100.00 1 NM_003355.3 -
Skin disorders - UGent
Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments AAAS 99.88 1 AAGAB 100.00 1 ABCA12 99.94 1 ABCB6 99.97 1 ABHD5 99.98 1 ADAM10 99.88 1 ADAR 99.84 1 ADGRE2 98.77 1 ALDH3A2 99.95 1 ALOX12B 100.00 1 ALOXE3 99.98 1 ALX4 100.00 1 ANTXR1 99.83 1 ANTXR2 99.67 1 AP1S1 99.49 1 AP3B1 99.89 1 AP3D1 100.00 1 APCDD1 99.99 1 AQP5 99.88 1 ARHGAP31 100.00 1 ARSL 99.93 1 ATP2A2 99.98 1 ATP6V1B2 99.99 1 ATP7A 99.87 1 AXIN2 100.00 1 BANF1 99.84 1 BCS1L 99.99 1 BLM 99.80 1 BLOC1S3 100.00 1 BLOC1S6 99.98 1 BMS1 85.80 1 BRAF 99.78 1 C1QA 99.99 1 C1QB 99.58 1 C1QC 99.97 1 C5 99.92 1 CARD11 99.97 1 CARD14 99.99 1 CASP10 99.85 1 CASP14 99.86 1 CASP8 99.92 1 CAST 99.94 1 CBL 99.95 1 CD151 100.00 1 CDH1 99.98 1 CDH3 99.98 1 CDKN1B 100.00 1 CDKN1C 100.00 1 CDSN 99.94 1 CERS3 99.85 1 CHST8 100.00 1 CHUK 99.83 1 CLDN1 99.99 1 CLDN10 99.97 1 COG6 99.86 1 COL17A1 99.98 1 COL18A1 99.99 1 COL7A1 99.99 1 COX7B 99.86 1 CYP11B1 100.00 1 CSTB 99.99 1 CSTA 99.83 1 CTLA4 99.99 1 CTSC 99.97 1 CYLD 99.46 1 CYP11A1 99.99 1 CYP21A2 99.85 1 CYP26C1 99.92 1 CYP4F22 99.97 1 DCAF17 99.84 1 DCLRE1C 99.79 1 DCPS 99.98 1 DDB2 100.00 1 DHCR24 99.93 1 DIP2B 99.65 1 DKC1 99.59 1 DLL4 100.00 1 DOCK6 100.00 1 DOCK8 99.86 1 DPH1 100.00 1 DSC3 99.73 1 DSG1 99.35 1 DSG3 99.97 1 DSG4 99.91 1 DSP 100.00 1 DST 99.52 1 DSTYK 99.83 1 DTNBP1 99.89 1 GLB1 99.92 1 EDA 99.44 1 EDAR 99.89 1 EDARADD 99.98 1 EDN3 100.00 1 EDNRA 99.97 1 EDNRB 99.99 1 ELOVL4 99.91 1 ENPP1 99.88 1 EOGT 99.09 1 EPG5 99.95 1 ERCC2 99.98 1 ERCC3 99.90 1 ERCC4 99.92 1 ERCC5 99.99 1 ERCC6 99.60 1 ERCC8 99.79 1 EVC 99.95 1 EVC2 99.97 1 EXPH5 99.81 1 F12 99.99 1 FAM111B 99.98 1 FAS 99.99 1 FASLG 99.84 1 FECH 99.98 1 FERMT1 99.90 1 FGFR1 98.88 1 FGFR3 100.00 1 FOXN1 99.97 1 FZD6 99.95 1 GBA1 96.92 1 GINS1 99.99 1 GJA1 100.00 1 GJB2 100.00 1 GJB3 99.99 1 GJB4 100.00 1 GJB6 100.00 1 GPR143 99.60 1 GREM2 100.00 1 GRHL2 100.00 1 GRIN2B 99.99 1 GTF2E2 100.00 1 GTF2H5 100.00 1 HCCS 99.90 1 HOXC13 99.98 1 HPGD 99.98 1 HPS1 100.00 1 HPS3 99.91 1 HPS4 99.98 1 HPS5 99.91 1 HPS6 100.00 1 HR 99.95 1 HRAS 100.00 1 HSPA9 99.96 1 IFT122 99.98 1 IFT43 99.97 1 IKBKG 57.34 1 IL2RA 99.99 1 IL31RA 100.00 1 ITGA3 99.86 1 ITGA6 99.78 1 ITGB4 99.99 1 ITPR2 99.13 1 JUP 99.94 1 KCNH1 99.92 1 KCTD1 99.99 1 KDF1 99.86 1 KDSR 99.99 1 KEAP1 100.00 1 KIT 99.86 1 KITLG 99.46 1 KLHL24 99.90 1 KRAS 99.13 1 KREMEN1 99.88 1 KRT1 99.89 1 KRT10 100.00 1 KRT13 99.98 1 KRT14 99.99 1 KRT16 100.00 1 KRT17 100.00 1 KRT2 99.88 1 KRT3 99.89 1 KRT5 99.98 1 KRT6A 100.00 1 KRT6B 99.95 1 KRT6C 96.59 1 KRT7 99.87 1 KRT74 99.92 1 KRT83 100.00 1 KRT85 99.97 1 KRT9 100.00 1 LAMA4 99.90 1 LAMB3 99.99 1 LAMC2 99.54 1 LBR 99.66 1 LIPH 99.99 1 LIPN 99.94 1 LMNA 99.96 1 LMNB2 99.99 1 LORICRIN 100.00 1 LPAR6 99.99 1 LRMDA 99.87 1 LRP1 99.94 1 LYST 99.87 1 LZTR1 99.46 1 MBTPS2 99.81 1 MC1R 100.00 1 MC2R 100.00 1 MC4R 100.00 1 MCM4 99.96 1 MEN1 99.98 1 MITF 99.98 1 MLPH 100.00 1 MMP1 99.99 1 MPDU1 99.97 1 MPLKIP 99.99 1 MSX1 100.00 1 MYO5A 99.94 1 NECTIN1 99.99 1 NECTIN4 99.97 1 NF1 99.88 1 NFKBIA 99.99 1 NIPAL4 100.00 1 NLRC4 99.95 1 NLRP1 95.26 1 NLRP12 99.99 1 NLRP3 100.00 1 NNT 99.87 1 NOP10 99.99 1 NOTCH1 99.98 1 NR5A1 99.92 1 NRAS 99.66 1 NSDHL 99.87 1 OCA2 99.60 1 OSMR 99.95 1 PADI3 99.35 1 PAX3 100.00 1 PAX6 99.95 1 PDGFRB 99.99 1 PEPD 99.98 1 PEX7 99.72 1 PGM3 99.94 1 PHGDH 99.79 1 PHYH 100.00 1 PIEZO1 99.98 1 PIGL 99.98 1 PIGT 99.95 1 PKP1 99.98 1 PLCD1 99.98 1 PLCG2 99.99 1 PLEC 100.00 1 PMVK 99.60 1 PNPLA1 99.98 1 PNPLA2 100.00 1 PNPLA6 99.99 1 POFUT1 100.00 1 POGLUT1 99.99 1 POLA1 99.57 1 POLH 99.85 1 POMC 99.99 1 NT5C3A 99.95 1 PORCN 99.93 1 HCRT 99.85 1 PRKCD 99.96 1 PRKD1 99.96 1 PSAT1 99.98 1 PSENEN 100.00 1 PSMB8 99.96 1 PTCH1 99.99 1 PTEN 99.89 1 PTPN11 99.98 1 PTPRF 99.92 1 RAB27A 99.94 1 RAD50 99.75 1 RAF1 99.97 1 RAG1 100.00 1 RAG2 100.00 1 RBM28 99.99 1 RBPJ 99.96 1 RECQL4 100.00 1 RET 99.97 1 RHBDF2 99.95 1 RIN2 99.99 1 RIT1 99.78 1 RMRP 100.00 1 RSPO1 99.99 1 SCN9A 99.83 1 SDR9C7 99.99 1 SERPINB7 99.93 1 SERPINB8 99.98 1 SERPING1 100.00 1 SGPL1 99.95 1 SHOC2 99.96 1 SLC24A5 99.99 1 SLC27A4 100.00 1 SLC29A3 99.98 1 SLC39A4 100.00 1 SLC45A2 100.00 1 SLURP1 100.00 1 SMARCA2 99.95 1 SMARCAD1 99.86 1 SNAI2 100.00 1 SNAP29 99.85 1 SNRPE 99.26 1 SOS1 99.68 1 SOS2 99.39 1 SOX10 100.00 1 SOX18 100.00 1 SPINK5 99.91 1 SPINT1 100.00 1 SPRED1 99.99 1 SRD5A3 99.94 1 ST14 100.00 1 ST3GAL5 99.96 1 STAT3 99.97 1 STIM1 99.99 1 STK11 100.00 1 STS 99.81 1 SULT2B1 99.92 1 SUMF1 99.95 1 TAT 99.99 1 TCHH 99.94 1 TERC 98.59 1 TGM1 99.82 1 TGM3 100.00 1 TGM5 100.00 1 TINF2 100.00 1 TP63 99.97 1 TRPM1 99.96 1 TRPS1 100.00 1 TRPV3 99.90 1 TWIST2 100.00 1 TXNRD2 99.97 1 TYRP1 99.97 1 UBR1 99.93 1 UROD 99.32 1 UROS 100.00 1 USB1 89.62 1 VCX 96.04 1 VCX3A 85.19 1 WDR19 99.80 1 WDR35 99.92 1 WNT10A 100.00 1 XPA 99.68 1 XPC 99.98 1 ZMPSTE24 98.70 1