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 ADAR gene ADAR Expert Review Amber Newborns additional phenotypes panel 1 MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Aicardi-Goutieres syndrome 6, autosomal dominant False 2 0;0;0 0.114 False Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments ENSG00000160710 ENSG00000160710 HGNC:225 ALPL gene ALPL Expert Review Amber Newborns additional phenotypes panel 1 MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Autosomal dominant hypophosphatasia False 2 0;0;0 0.114 False Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments ENSG00000162551 ENSG00000162551 HGNC:438 APOA5 gene APOA5 Expert Review Amber Newborns additional phenotypes panel 1 MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Hyperchylomicronemia, late-onset False 2 0;0;0 0.114 False ENSG00000110243 ENSG00000110243 HGNC:17288 APOB gene APOB Expert Review Amber Newborns additional phenotypes panel 1 MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Hypercholesterolaemia, familial, 2 False 2 0;0;0 0.114 False Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments ENSG00000084674 ENSG00000084674 HGNC:603 C3 gene C3 Expert Review Amber Newborns additional phenotypes panel 1 MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Hemolytic uremic syndrome, atypical, susceptibility to, 5 False 2 0;0;0 0.114 False Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments ENSG00000125730 ENSG00000125730 HGNC:1318 CACNA1C gene CACNA1C Expert Review Amber Newborns additional phenotypes panel 1 MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Timothy Syndrome False 2 0;0;0 0.114 False Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments ENSG00000151067 ENSG00000151067 HGNC:1390 CARD11 gene CARD11 Expert Review Amber Newborns additional phenotypes panel 1 MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown B-cell expansion with NFKB and T-cell anergy False 2 0;0;0 0.114 False Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments ENSG00000198286 ENSG00000198286 HGNC:16393 CAV1 gene CAV1 Expert Review Amber Newborns additional phenotypes panel 1 MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Lipodystrophy, familial partial, type 7 False 2 0;0;0 0.114 False Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments ENSG00000105974 ENSG00000105974 HGNC:1527 CD46 gene CD46 Expert Review Amber Newborns additional phenotypes panel 1 MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Hemolytic uremic syndrome, atypical, susceptibility to, 2, autosomal dominant False 2 0;0;0 0.114 False ENSG00000117335 ENSG00000117335 HGNC:6953 CFB gene CFB Expert Review Amber Newborns additional phenotypes panel 1 MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Hemolytic uremic syndrome, atypical, susceptibility to, 4 False 2 0;0;0 0.114 False Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments ENSG00000243649 ENSG00000243649 HGNC:1037 CFH gene CFH Expert Review Amber Newborns additional phenotypes panel 1 BIALLELIC, autosomal or pseudoautosomal Hemolytic uremic syndrome, atypical, susceptibility to, 1, autosomal recessive False 2 0;0;0 0.114 False ENSG00000000971 ENSG00000000971 HGNC:4883 CFI gene CFI Expert Review Amber Newborns additional phenotypes panel 1 MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Hemolytic uremic syndrome, atypical, susceptibility to, 3 False 2 0;0;0 0.114 False ENSG00000205403 ENSG00000205403 HGNC:5394 CHRNE gene CHRNE Expert Review Amber Newborns additional phenotypes panel 1 MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Myasthenic syndrome, congenital, 4, autosomal dominant False 2 0;0;0 0.114 False Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments ENSG00000108556 ENSG00000108556 HGNC:1966 CLCN1 gene CLCN1 Expert Review Amber Newborns additional phenotypes panel 1 MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Myotonia congenita, dominant False 2 0;0;0 0.114 False ENSG00000188037 ENSG00000188037 HGNC:2019 COL4A3 gene COL4A3 Expert Review Amber Newborns additional phenotypes panel 1 MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Alport syndrome 3, autosomal dominant False 2 0;0;0 0.114 False Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments ENSG00000169031 ENSG00000169031 HGNC:2204 DGKE gene DGKE Expert Review Amber Newborns additional phenotypes panel 1 BIALLELIC, autosomal or pseudoautosomal Nephrotic syndrome, type 7 False 2 0;0;0 0.114 False ENSG00000153933 ENSG00000153933 HGNC:2852 F11 gene F11 Expert Review Amber Newborns additional phenotypes panel 1 MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Factor XI deficiency, autosomal dominant False 2 0;0;0 0.114 False Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments ENSG00000088926 ENSG00000088926 HGNC:3529 GCH1 gene GCH1 Expert Review Amber Newborns additional phenotypes panel 1 MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Dopa-responsive dystonia due to GTP cyclohydrolase 1 deficiency, autosomal dominant False 2 0;0;0 0.114 False ENSG00000131979 ENSG00000131979 HGNC:4193 GCM2 gene GCM2 Expert Review Amber Newborns additional phenotypes panel 1 MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown familial isolated hypoparathyroidism 2, Autosomal Dominant False 2 0;0;0 0.114 False Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments ENSG00000124827 ENSG00000124827 HGNC:4198 GLRA1 gene GLRA1 Expert Review Amber Newborns additional phenotypes panel 1 MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Hyperekplexia 1 autosomal dominant False 2 0;0;0 0.114 False Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments ENSG00000145888 ENSG00000145888 HGNC:4326 GNAS gene GNAS Expert Review Amber Newborns additional phenotypes panel 1 MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Pseudohypoparathyroidism Ib False 2 0;0;0 0.114 False ENSG00000087460 ENSG00000087460 HGNC:4392 IKBKB gene IKBKB Expert Review Amber Newborns additional phenotypes panel 1 MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Immunodeficiency 15A False 2 0;0;0 0.114 False Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments ENSG00000104365 ENSG00000104365 HGNC:5960 KCNE1 gene KCNE1 Expert Review Amber Newborns additional phenotypes panel 1 MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Long QT Syndrome 5 False 2 0;0;0 0.114 False ENSG00000180509 ENSG00000180509 HGNC:6240 KCNJ11 gene KCNJ11 Expert Review Amber Newborns additional phenotypes panel 1 MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Familial hyperinsulinemic hypoglycemia-2, autosomal dominant False 2 0;0;0 0.114 False ENSG00000187486 ENSG00000187486 HGNC:6257 KCNQ1 gene KCNQ1 Expert Review Amber Newborns additional phenotypes panel 1 MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Long QT Syndrome 1 False 2 0;0;0 0.114 False ENSG00000053918 ENSG00000053918 HGNC:6294 LDLR gene LDLR Expert Review Amber Newborns additional phenotypes panel 1 MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Familial hypercholesterolaemia-1 False 2 0;0;0 0.114 False ENSG00000130164 ENSG00000130164 HGNC:6547 MEFV gene MEFV Expert Review Amber Newborns additional phenotypes panel 1 MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Familial Mediterranean fever, Autosomal dominant False 2 0;0;0 0.114 False Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments ENSG00000103313 ENSG00000103313 HGNC:6998 NEUROD1 gene NEUROD1 Expert Review Amber Newborns additional phenotypes panel 1 MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Maturity-onset diabetes of the young 6, autosomal dominant False 2 0;0;0 0.114 False ENSG00000162992 ENSG00000162992 HGNC:7762 PIK3CD gene PIK3CD Expert Review Amber Newborns additional phenotypes panel 1 MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Immunodeficiency 14A False 2 0;0;0 0.114 False Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments ENSG00000171608 ENSG00000171608 HGNC:8977 PIK3R1 gene PIK3R1 Expert Review Amber Newborns additional phenotypes panel 1 MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Immunodeficiency 36 False 2 0;0;0 0.114 False Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments ENSG00000145675 ENSG00000145675 HGNC:8979 PTH gene PTH Expert Review Amber Newborns additional phenotypes panel 1 MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown familial isolated hypoparathyroidism 1, Autosomal dominant False 2 0;0;0 0.114 False ENSG00000152266 ENSG00000152266 HGNC:9606 SCN4A gene SCN4A Expert Review Amber Newborns additional phenotypes panel 1 MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Hypokalemic periodic paralysis type 2 False 2 0;0;0 0.114 False Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments ENSG00000007314 ENSG00000007314 HGNC:10591 SCN5A gene SCN5A Expert Review Amber Newborns additional phenotypes panel 1 MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Brugada syndrome 1 plus cardiac conduction defects False 2 0;0;0 0.114 False Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments ENSG00000183873 ENSG00000183873 HGNC:10593 SERPING1 gene SERPING1 Expert Review Amber Newborns additional phenotypes panel 1 MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Hereditary angioedema, autosomal dominant False 2 0;0;0 0.114 False Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments ENSG00000149131 ENSG00000149131 HGNC:1228 SLC37A4 gene SLC37A4 Expert Review Amber Newborns additional phenotypes panel 1 MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Congenital disorder of glycosylation, type IIw False 2 0;0;0 0.114 False Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments ENSG00000137700 ENSG00000137700 HGNC:4061 SLC6A5 gene SLC6A5 Expert Review Amber Newborns additional phenotypes panel 1 MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Hyperekplexia 3 autosomal dominant False 2 0;0;0 0.114 False Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments ENSG00000165970 ENSG00000165970 HGNC:11051 TREX1 gene TREX1 Expert Review Amber Newborns additional phenotypes panel 1 MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Aicardi-Goutieres syndrome 1, autosomal dominant False 2 0;0;0 0.114 False ENSG00000213689 ENSG00000213689 HGNC:12269