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 ABCC8 gene ABCC8 Expert Review Green Newborns additional phenotypes panel 1 BIALLELIC, autosomal or pseudoautosomal Diabetes mellitus, permanent neonatal 3, with or without neurologic features, autosomal recessive False 3 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 ENSG00000006071 ENSG00000006071 HGNC:59 ALAS2 gene ALAS2 Expert Review Green Newborns additional phenotypes panel 1 X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Protoporphyria, erythropoietic, X-linked False 3 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 ENSG00000158578 ENSG00000158578 HGNC:397 AQP2 gene AQP2 Expert Review Green Newborns additional phenotypes panel 1 MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Dominant diabetes insipidus, nephrogenic, 2 False 3 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 ENSG00000167580 ENSG00000167580 HGNC:634 AVP gene AVP Expert Review;Expert Review Green Newborns additional phenotypes panel 1 BIALLELIC, autosomal or pseudoautosomal Diabetes insipidus, neurohypophyseal, autosomal recessive 10369876;19897608;22168581 False 3 0;0;0 0.114 False ENSG00000101200 ENSG00000101200 HGNC:894 CASR gene CASR Expert Review Green Newborns additional phenotypes panel 1 MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Neonatal hyperparathyroidism, Autosomal Dominant False 3 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 ENSG00000036828 ENSG00000036828 HGNC:1514 CHRNA1 gene CHRNA1 Expert Review Green Newborns additional phenotypes panel 1 MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Congenital myasthenic syndrome-1, autosomal dominant False 3 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 ENSG00000138435 ENSG00000138435 HGNC:1955 CHRNB1 gene CHRNB1 Expert Review Green Newborns additional phenotypes panel 1 MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Congenital myasthenic syndrome-2, autosomal dominant False 3 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 ENSG00000170175 ENSG00000170175 HGNC:1961 CHRND gene CHRND Expert Review Green Newborns additional phenotypes panel 1 MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Congenital myasthenic syndrome-3, autosomal dominant False 3 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 ENSG00000135902 ENSG00000135902 HGNC:1965 CLCN7 gene CLCN7 Expert Review Green Newborns additional phenotypes panel 1 MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Osteopetrosis type 4, autosomal dominant False 3 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 ENSG00000103249 ENSG00000103249 HGNC:2025 EDAR gene EDAR Expert Review Green Newborns additional phenotypes panel 1 MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant False 3 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 ENSG00000135960 ENSG00000135960 HGNC:2895 EDARADD gene EDARADD Expert Review Green Newborns additional phenotypes panel 1 MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Ectodermal dysplasia 11A, hypohidrotic/hair/tooth type, autosomal dominant False 3 0;0;0 0.114 False ENSG00000186197 ENSG00000186197 HGNC:14341 ERCC4 gene ERCC4 Expert Review Green Newborns additional phenotypes panel 1 BIALLELIC, autosomal or pseudoautosomal Xeroderma pigmentosum, group F False 3 0;0;0 0.114 False ENSG00000175595 ENSG00000175595 HGNC:3436 FGF23 gene FGF23 Expert Review Green Newborns additional phenotypes panel 1 MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Hypophosphatemic rickets, autosomal dominant False 3 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 ENSG00000118972 ENSG00000118972 HGNC:3680 GCK gene GCK Expert Review Green Newborns additional phenotypes panel 1 MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Familial hyperinsulinemic hypoglycemia-3 False 3 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 ENSG00000106633 ENSG00000106633 HGNC:4195 GH1 gene GH1 Expert Review Green Newborns additional phenotypes panel 1 BIALLELIC, autosomal or pseudoautosomal Isolated growth hormone deficiency type 1B, autosomal recessive False 3 0;0;0 0.114 False ENSG00000259384 ENSG00000259384 HGNC:4261 HBB gene HBB Expert Review Green Newborns additional phenotypes panel 1 BIALLELIC, autosomal or pseudoautosomal Sickle Cell Disease False 3 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 ENSG00000244734 ENSG00000244734 HGNC:4827 IFNGR1 gene IFNGR1 Expert Review Green Newborns additional phenotypes panel 1 MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Immunodeficiency 27A, mycobacteriosis, Autosomal dominant False 3 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 ENSG00000027697 ENSG00000027697 HGNC:5439 INS gene INS Expert Review Green Newborns additional phenotypes panel 1 MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Autosomal dominant diabetes mellitus, permanent neonatal 4 False 3 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 ENSG00000254647 ENSG00000254647 HGNC:6081 KLHL3 gene KLHL3 Expert Review Green Newborns additional phenotypes panel 1 MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Pseudohypoaldosteronism, type IID, autosomal dominant False 3 0;0;0 0.114 False ENSG00000146021 ENSG00000146021 HGNC:6354 MMADHC gene MMADHC Expert Review Green Newborns additional phenotypes panel 1 BIALLELIC, autosomal or pseudoautosomal Methylmalonic aciduria, cblD type, variant 2 False 3 0;0;0 0.114 False ENSG00000168288 ENSG00000168288 HGNC:25221 NR5A1 gene NR5A1 Expert list;Expert Review Green Newborns additional phenotypes panel 1 BIALLELIC, autosomal or pseudoautosomal NR5A1 associated adrenocortical insufficiency False 3 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 ENSG00000136931 ENSG00000136931 HGNC:7983 PCSK9 gene PCSK9 Expert Review Green Newborns additional phenotypes panel 1 BIALLELIC, autosomal or pseudoautosomal Familial hypercholesterolaemia-3 Autosomal Recessive False 3 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 ENSG00000169174 ENSG00000169174 HGNC:20001 PMM2 gene PMM2 Expert Review Green Newborns additional phenotypes panel 1 BIALLELIC, autosomal or pseudoautosomal Polycystic kidney disease with hyperinsulinemic hypoglycemia False 3 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 ENSG00000140650 ENSG00000140650 HGNC:9115 POU1F1 gene POU1F1 Expert Review Green Newborns additional phenotypes panel 1 MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Pituitary hormone deficiency, combined or isolated, 1, autosomal dominant False 3 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 ENSG00000064835 ENSG00000064835 HGNC:9210 PROKR2 gene PROKR2 Expert Review Green Newborns additional phenotypes panel 1 BIALLELIC, autosomal or pseudoautosomal Hypogonadotropic hypogonadism 3 with or without anosmia, autosomal recessive False 3 0;0;0 0.114 False ENSG00000101292 ENSG00000101292 HGNC:15836 RAC2 gene RAC2 Expert Review Green Newborns additional phenotypes panel 1 MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Immunodeficiency 73B False 3 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 ENSG00000128340 ENSG00000128340 HGNC:9802 SLC2A1 gene SLC2A1 Expert Review Green Newborns additional phenotypes panel 1 MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown GLUT1 deficiency syndrome-1, Autosomal Dominant False 3 0;0;0 0.114 False ENSG00000117394 ENSG00000117394 HGNC:11005 SLC4A1 gene SLC4A1 Expert Review Green Newborns additional phenotypes panel 1 MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Distal renal tubular acidosis type 1, autosomal dominant False 3 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 ENSG00000004939 ENSG00000004939 HGNC:11027 SYT2 gene SYT2 Expert Review Green Newborns additional phenotypes panel 1 MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Congenital myasthenic syndrome 7, autosomal dominant False 3 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 ENSG00000143858 ENSG00000143858 HGNC:11510 TCF3 gene TCF3 Expert Review Green Newborns additional phenotypes panel 1 MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Agammaglobulinaemia 8, autosomal dominant False 3 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 ENSG00000071564 ENSG00000071564 HGNC:11633 THRB gene THRB Expert Review Green Newborns additional phenotypes panel 1 MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Thyroid hormone resistance, autosomal dominant False 3 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 ENSG00000151090 ENSG00000151090 HGNC:11799 TLR3 gene TLR3 Expert Review Green Newborns additional phenotypes panel 1 MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Immunodeficiency 83 dominant loss of function False 3 0;0;0 0.114 False ENSG00000164342 ENSG00000164342 HGNC:11849 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 HNF1A gene HNF1A Expert Review Red Newborns additional phenotypes panel 1 MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown HNF1A associated MODY False 1 0;0;0 0.114 False ENSG00000135100 ENSG00000135100 HGNC:11621 HNF4A gene HNF4A Expert Review Red Newborns additional phenotypes panel 1 MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown HNF4A associated MODY False 1 0;0;0 0.114 False ENSG00000101076 ENSG00000101076 HGNC:5024 MLH1 gene MLH1 Expert Review Red Newborns additional phenotypes panel 1 MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Hereditary nonpolyposis colorectal cancer-2 False 1 0;0;0 0.114 False ENSG00000076242 ENSG00000076242 HGNC:7127 MSH2 gene MSH2 Expert Review Red Newborns additional phenotypes panel 1 MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Hereditary nonpolyposis colorectal cancer-1 False 1 0;0;0 0.114 False ENSG00000095002 ENSG00000095002 HGNC:7325 MSH6 gene MSH6 Expert Review Red Newborns additional phenotypes panel 1 MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Hereditary nonpolyposis colorectal cancer-5 False 1 0;0;0 0.114 False ENSG00000116062 ENSG00000116062 HGNC:7329 PMS2 gene PMS2 Expert Review Red Newborns additional phenotypes panel 1 MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Hereditary nonpolyposis colorectal cancer-4 False 1 0;0;0 0.114 False ENSG00000122512 ENSG00000122512 HGNC:9122 TNFRSF13B gene TNFRSF13B Expert Review Red Newborns additional phenotypes panel 1 MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Common variable immune deficiency 2, autosomal dominant False 1 0;0;0 0.114 False ENSG00000240505 ENSG00000240505 HGNC:18153 UROD gene UROD Expert Review Red Newborns additional phenotypes panel 1 MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Porphyria cutanea tarda False 1 0;0;0 0.114 False ENSG00000126088 ENSG00000126088 HGNC:12591 WFS1 gene WFS1 Expert Review Red Newborns additional phenotypes panel 1 MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Wolfram-like Syndrome False 1 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 ENSG00000109501 ENSG00000109501 HGNC:12762