Entity Name Entity type Gene Symbol Sources(; separated) Level4 Level3 Level2 Model_Of_Inheritance Phenotypes Omim Orphanet HPO Publications Description Flagged GEL_Status UserRatings_Green_amber_red version ready Mode of pathogenicity EnsemblId(GRch37) EnsemblId(GRch38) HGNC Position Chromosome Position GRCh37 Start Position GRCh37 End Position GRCh38 Start Position GRCh38 End STR Repeated Sequence STR Normal Repeats STR Pathogenic Repeats Region Haploinsufficiency Score Region Triplosensitivity Score Region Required Overlap Percentage Region Variant Type Region Verbose Name ACTA2 gene ACTA2 BabySeq Category B gene;Expert Review Amber Additional findings_Paediatric Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Aortic aneurysm, familial thoracic False 2 0;0;0 0.278 False ENSG00000107796 ENSG00000107796 HGNC:130 AIP gene AIP BabySeq Category B gene;Expert Review Amber Additional findings_Paediatric Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Pituitary adenoma False 2 50;50;0 0.278 False ENSG00000110711 ENSG00000110711 HGNC:358 BMPR2 gene BMPR2 BabySeq Category B gene;Expert Review Amber Additional findings_Paediatric Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Pulmonary hypertension, familial primary False 2 0;0;0 0.278 False ENSG00000204217 ENSG00000204217 HGNC:1078 CACNA1C gene CACNA1C BabySeq Category B gene;Expert Review Amber Additional findings_Paediatric Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Brugada syndrome False 2 0;0;0 0.278 False ENSG00000151067 ENSG00000151067 HGNC:1390 CDKN2A gene CDKN2A BabySeq Category B gene;Expert Review Amber Additional findings_Paediatric Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Melanoma False 2 0;0;0 0.278 False ENSG00000147889 ENSG00000147889 HGNC:1787 CP gene CP BabySeq Category B gene;Expert Review Amber Additional findings_Paediatric Screening BIALLELIC, autosomal or pseudoautosomal Aceruloplasminaemia False 2 0;0;0 0.278 False ENSG00000047457 ENSG00000047457 HGNC:2295 CRYAB gene CRYAB BabySeq Category A gene;BabySeq Category B gene;Expert Review Amber Additional findings_Paediatric Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Myofibrillar myopathy;Cardiomyopathy, dilated False 2 0;0;0 0.278 False ENSG00000109846 ENSG00000109846 HGNC:2389 DES gene DES BabySeq Category A gene;BabySeq Category B gene;Expert Review Amber Additional findings_Paediatric Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Cardiomyopathy, dilated;Myopathy, myofibrillar False 2 0;0;0 0.278 False ENSG00000175084 ENSG00000175084 HGNC:2770 DKC1 gene DKC1 BabySeq Category B gene;Expert Review Amber Additional findings_Paediatric Screening X-LINKED: hemizygous mutation in males, biallelic mutations in females Dyskeratosis congenita False 2 0;0;0 0.278 False ENSG00000130826 ENSG00000130826 HGNC:2890 DMD gene DMD BabySeq Category A gene;BabySeq Category B gene;Expert Review Amber Additional findings_Paediatric Screening X-LINKED: hemizygous mutation in males, biallelic mutations in females Becker muscular dystrophy;Duchenne muscular dystrophy;Cardiomyopathy, dilated False 2 0;0;0 0.278 False ENSG00000198947 ENSG00000198947 HGNC:2928 DSC2 gene DSC2 BabySeq Category B gene;Expert Review Amber Additional findings_Paediatric Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Arrhythmogenic right ventricular cardiomyopathy False 2 0;0;0 0.278 False ENSG00000134755 ENSG00000134755 HGNC:3036 DSG2 gene DSG2 BabySeq Category B gene;Expert Review Amber Additional findings_Paediatric Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Arrhythmogenic right ventricular cardiomyopathy False 2 0;0;0 0.278 False ENSG00000046604 ENSG00000046604 HGNC:3049 DSP gene DSP BabySeq Category A gene;BabySeq Category B gene;Expert Review Amber Additional findings_Paediatric Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Arrhythmogenic right ventricular dysplasia/cardiomyopathy;Epidermolysis bullosa, lethal acantholytic False 2 0;0;0 0.278 False ENSG00000096696 ENSG00000096696 HGNC:3052 GABRG2 gene GABRG2 BabySeq Category C gene;Expert Review Amber Additional findings_Paediatric Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Epilepsy, generalized, with febrile seizures plus, type 3 MIM# 607681;Epileptic encephalopathy, early infantile, 74 MIM# 618396;Febrile seizures, familial, 8 MIM# 607681 27864268 False 2 0;100;0 0.278 True ENSG00000113327 ENSG00000113327 HGNC:4087 GCH1 gene GCH1 BabySeq Category B gene;Expert Review Amber Additional findings_Paediatric Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Dystonia, dopa-responsive False 2 0;0;0 0.278 False ENSG00000131979 ENSG00000131979 HGNC:4193 GJA5 gene GJA5 BabySeq Category B gene;Expert Review Amber Additional findings_Paediatric Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Atrial fibrillation False 2 0;0;0 0.278 False ENSG00000143140 ENSG00000265107 HGNC:4279 GPD1L gene GPD1L BabySeq Category B gene;Expert Review Amber Additional findings_Paediatric Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Brugada syndrome False 2 0;0;0 0.278 False ENSG00000152642 ENSG00000152642 HGNC:28956 JUP gene JUP BabySeq Category A gene;BabySeq Category B gene;Expert Review Amber Additional findings_Paediatric Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Naxos disease;Arrhythmogenic right ventricular dysplasia 12 False 2 0;0;0 0.278 False ENSG00000173801 ENSG00000173801 HGNC:6207 KCNA5 gene KCNA5 BabySeq Category B gene;Expert Review Amber Additional findings_Paediatric Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Atrial fibrillation False 2 0;0;0 0.278 False ENSG00000130037 ENSG00000130037 HGNC:6224 KCNE1 gene KCNE1 BabySeq Category A gene;BabySeq Category B gene;Expert Review Amber Additional findings_Paediatric Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Jervell and Lange-Nielsen syndrome;Long QT syndrome-5 False 2 0;0;0 0.278 False ENSG00000180509 ENSG00000180509 HGNC:6240 KCNE2 gene KCNE2 BabySeq Category B gene;Expert Review Amber Additional findings_Paediatric Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Long QT syndrome-6 False 2 0;0;0 0.278 False ENSG00000159197 ENSG00000159197 HGNC:6242 KCNH2 gene KCNH2 BabySeq Category B gene;Expert Review Amber Additional findings_Paediatric Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Long QT syndrome-2 False 2 0;0;0 0.278 False ENSG00000055118 ENSG00000055118 HGNC:6251 KCNQ1 gene KCNQ1 BabySeq Category A gene;BabySeq Category B gene;Expert Review Amber Additional findings_Paediatric Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Jervell and Lange-Nielsen syndrome;Long QT syndrome-1 False 2 100;0;0 0.278 False ENSG00000053918 ENSG00000053918 HGNC:6294 KRIT1 gene KRIT1 Expert list;Expert Review Amber Additional findings_Paediatric Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Cerebral cavernous malformations-1 MIM# 116860 PMID: 30061145, 20301470, 27561926 False 2 0;100;0 0.278 True ENSG00000001631 ENSG00000001631 HGNC:1573 LMNA gene LMNA BabySeq Category A gene;BabySeq Category B gene;Expert Review Amber Additional findings_Paediatric Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Emery-Dreifuss muscular dystrophy 2;Charcot-Marie-Tooth disease;Dilated cardiomyopathy False 2 0;0;0 0.278 False ENSG00000160789 ENSG00000160789 HGNC:6636 MCCC1 gene MCCC1 BabySeq Category B gene;Expert Review Amber Additional findings_Paediatric Screening BIALLELIC, autosomal or pseudoautosomal 3-Methylcrotonyl-CoA carboxylase 1 deficiency False 2 0;0;0 0.278 False ENSG00000078070 ENSG00000078070 HGNC:6936 MTHFR gene MTHFR BabySeq Category B gene;Expert Review Amber Additional findings_Paediatric Screening BIALLELIC, autosomal or pseudoautosomal Homocystinuria due to MTHFR deficiency False 2 0;0;0 0.278 False ENSG00000177000 ENSG00000177000 HGNC:7436 MYH11 gene MYH11 BabySeq Category B gene;Expert Review Amber Additional findings_Paediatric Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Aortic aneurysm, familial thoracic 4 False 2 0;0;0 0.278 False ENSG00000133392 ENSG00000133392 HGNC:7569 MYL2 gene MYL2 BabySeq Category B gene;Expert Review Amber Additional findings_Paediatric Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Cardiomyopathy, familial hypertrophic, 10 False 2 0;0;0 0.278 False ENSG00000111245 ENSG00000111245 HGNC:7583 MYL3 gene MYL3 BabySeq Category B gene;Expert Review Amber Additional findings_Paediatric Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Cardiomyopathy, familial hypertrophic, 8 False 2 0;0;0 0.278 False ENSG00000160808 ENSG00000160808 HGNC:7584 MYLK gene MYLK BabySeq Category B gene;Expert Review Amber Additional findings_Paediatric Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Aortic aneurysm, familial thoracic 7 False 2 0;0;0 0.278 False ENSG00000065534 ENSG00000065534 HGNC:7590 NKX2-5 gene NKX2-5 BabySeq Category B gene;Expert Review Amber Additional findings_Paediatric Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Congenital heart disease False 2 0;0;0 0.278 False ENSG00000183072 ENSG00000183072 HGNC:2488 PCSK9 gene PCSK9 BabySeq Category B gene;Expert Review Amber Additional findings_Paediatric Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Hypercholesterolemia False 2 0;0;0 0.278 False ENSG00000169174 ENSG00000169174 HGNC:20001 PHOX2B gene PHOX2B BabySeq Category B gene;Expert Review Amber Additional findings_Paediatric Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Central hypoventilation syndrome False 2 0;0;0 0.278 False ENSG00000109132 ENSG00000109132 HGNC:9143 PKP2 gene PKP2 BabySeq Category B gene;Expert Review Amber Additional findings_Paediatric Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Arrhythmogenic right ventricular dysplasia 9 False 2 0;0;0 0.278 False ENSG00000057294 ENSG00000057294 HGNC:9024 RBM20 gene RBM20 BabySeq Category B gene;Expert Review Amber Additional findings_Paediatric Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Cardiomyopathy, dilated, 1DD False 2 0;0;0 0.278 False ENSG00000203867 ENSG00000203867 HGNC:27424 SCN5A gene SCN5A BabySeq Category B gene;Expert Review Amber Additional findings_Paediatric Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Brugada syndrome;Long QT syndrome False 2 0;0;0 0.278 False ENSG00000183873 ENSG00000183873 HGNC:10593 SDHAF2 gene SDHAF2 BabySeq Category B gene;Expert Review Amber Additional findings_Paediatric Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Hereditary Paraganglioma-Pheochromocytoma Syndromes False 2 0;0;0 0.278 False ENSG00000167985 ENSG00000167985 HGNC:26034 SDHB gene SDHB BabySeq Category B gene;Expert Review Amber Additional findings_Paediatric Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Hereditary Paraganglioma-Pheochromocytoma Syndromes False 2 0;0;0 0.278 False ENSG00000117118 ENSG00000117118 HGNC:10681 SDHC gene SDHC BabySeq Category B gene;Expert Review Amber Additional findings_Paediatric Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Hereditary Paraganglioma-Pheochromocytoma Syndromes False 2 0;0;0 0.278 False ENSG00000143252 ENSG00000143252 HGNC:10682 SNTA1 gene SNTA1 BabySeq Category B gene;Expert Review Amber Additional findings_Paediatric Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Long QT syndrome False 2 0;0;0 0.278 False ENSG00000101400 ENSG00000101400 HGNC:11167 TERC gene TERC BabySeq Category B gene;Expert Review Amber Additional findings_Paediatric Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Dyskeratosis congenita False 2 0;0;0 0.278 False ENSG00000270141 ENSG00000270141 HGNC:11727 TERT gene TERT BabySeq Category B gene;Expert Review Amber Additional findings_Paediatric Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Dyskeratosis congenita False 2 0;0;0 0.278 False ENSG00000164362 ENSG00000164362 HGNC:11730 TINF2 gene TINF2 BabySeq Category B gene;Expert Review Amber Additional findings_Paediatric Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Dyskeratosis congenita False 2 0;0;0 0.278 False ENSG00000092330 ENSG00000092330 HGNC:11824 TNNC1 gene TNNC1 BabySeq Category B gene;Expert Review Amber Additional findings_Paediatric Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Cardiomyopathy, dilated False 2 0;0;0 0.278 False ENSG00000114854 ENSG00000114854 HGNC:11943 TNNI3 gene TNNI3 BabySeq Category B gene;Expert Review Amber Additional findings_Paediatric Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Familial hypertrophic cardiomyopathy;Cardiomyopathy, dilated False 2 0;0;0 0.278 False ENSG00000129991 ENSG00000129991 HGNC:11947 TNNT2 gene TNNT2 BabySeq Category B gene;Expert Review Amber Additional findings_Paediatric Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Familial hypertrophic cardiomyopathy;Cardiomyopathy, dilated False 2 0;0;0 0.278 False ENSG00000118194 ENSG00000118194 HGNC:11949 TPM1 gene TPM1 BabySeq Category B gene;Expert Review Amber Additional findings_Paediatric Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Cardiomyopathy, hypertrophic False 2 0;0;0 0.278 False ENSG00000140416 ENSG00000140416 HGNC:12010 TTN gene TTN BabySeq Category A gene;BabySeq Category B gene;Expert Review Amber Additional findings_Paediatric Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Centronuclear myopathy;Cardiomyopathy, dilated False 2 0;0;0 0.278 False ENSG00000155657 ENSG00000155657 HGNC:12403 VCL gene VCL BabySeq Category B gene;Expert Review Amber Additional findings_Paediatric Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Cardiomyopathy, dilated False 2 0;0;0 0.278 False ENSG00000035403 ENSG00000035403 HGNC:12665 VWF gene VWF BabySeq Category B gene;Expert Review Amber Additional findings_Paediatric Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted von Willebrand disease False 2 0;0;0 0.278 False ENSG00000110799 ENSG00000110799 HGNC:12726 WT1 gene WT1 BabySeq Category A gene;BabySeq Category B gene;Expert Review Amber Additional findings_Paediatric Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Frasier syndrome;Denys-Drash syndrome;Wilms tumor, type 1 False 2 0;0;0 0.278 False ENSG00000184937 ENSG00000184937 HGNC:12796