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 BabySeq Category A gene;Expert Review Amber BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal Aicardi-Goutieres syndrome 6, MIM# 615010 32877590 False 2 0;100;0 1.116 True ENSG00000160710 ENSG00000160710 HGNC:225 AGPAT2 gene AGPAT2 Expert list;Expert Review Amber BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal "Lipodystrophy, congenital generalized, type 1, MIM# 608594" 29704234 False 2 0;100;0 1.116 True ENSG00000169692 ENSG00000169692 HGNC:325 AMT gene AMT BabySeq Category A gene;Expert Review Amber BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal Glycine encephalopathy MIM#605899 35683414 False 2 0;100;0 1.116 True ENSG00000145020 ENSG00000145020 HGNC:473 AP1B1 gene AP1B1 Expert list;Expert Review Amber BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal Keratitis-ichthyosis-deafness syndrome, autosomal recessive MIM#242150 PMID:31630791, 31630788, 33452671 False 2 50;50;0 1.116 True ENSG00000100280 ENSG00000100280 HGNC:554 AP3D1 gene AP3D1 Expert list;Expert Review Amber BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal Hermansky-Pudlak syndrome 10, MIM# 617050 26744459;9697856;30472485;36445457 False 2 0;100;0 1.116 True ENSG00000065000 ENSG00000065000 HGNC:568 CACNA1C gene CACNA1C BabySeq Category B gene;BeginNGS;Expert Review Amber BabyScreen+ newborn screening Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted "Timothy syndrome, MIM# 601005;Brugada syndrome;Long QT syndrome 8, MIM# 618447" False 2 0;0;0 1.116 False ENSG00000151067 ENSG00000151067 HGNC:1390 CALM1 gene CALM1 ClinGen;Expert Review Amber BabyScreen+ newborn screening Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Ventricular tachycardia, catecholaminergic polymorphic, 4, MIM# 614916 False 2 0;100;0 1.116 True ENSG00000198668 ENSG00000198668 HGNC:1442 CALM2 gene CALM2 ClinGen;Expert Review Amber BabyScreen+ newborn screening Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Catecholaminergic polymorphic ventricular tachycardia MONDO:0017990 False 2 0;100;0 1.116 True ENSG00000143933 ENSG00000143933 HGNC:1445 CASQ2 gene CASQ2 BabySeq Category A gene;Expert Review Amber BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal Ventricular tachycardia, catecholaminergic polymorphic, 2, MIM# 611938 False 2 0;100;0 1.116 True ENSG00000118729 ENSG00000118729 HGNC:1513 CLN3 gene CLN3 BabySeq Category A gene;Expert Review Amber BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal Ceroid lipofuscinosis, neuronal, 3, MIM# 204200 False 2 0;100;0 1.116 True ENSG00000188603 ENSG00000188603 HGNC:2074 CLN5 gene CLN5 BabySeq Category A gene;Expert Review Amber BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal Ceroid lipofuscinosis, neuronal, 5, MIM# 256731;MONDO:0009745 False 2 0;100;0 1.116 True ENSG00000102805 ENSG00000102805 HGNC:2076 CLN6 gene CLN6 BabySeq Category A gene;Expert Review Amber BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal Ceroid lipofuscinosis, neuronal, 6, MIM# 601780 33242182 False 2 0;100;0 1.116 True ENSG00000128973 ENSG00000128973 HGNC:2077 COL3A1 gene COL3A1 BabySeq Category A gene;Expert Review Amber BabyScreen+ newborn screening Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Ehlers-Danlos syndrome, vascular type, MIM# 130050 False 2 0;100;0 1.116 True ENSG00000168542 ENSG00000168542 HGNC:2201 COQ7 gene COQ7 BeginNGS;Expert Review Amber BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal "Coenzyme Q10 deficiency, primary, 8, MIM# 616733" False 2 0;100;0 1.116 True ENSG00000167186 ENSG00000167186 HGNC:2244 CP gene CP BabySeq Category B gene;Expert Review Amber BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal Aceruloplasminaemia, MIM#604290 False 2 0;100;0 1.116 True ENSG00000047457 ENSG00000047457 HGNC:2295 CRYAB gene CRYAB BabySeq Category A gene;BabySeq Category B gene;Expert Review Amber BabyScreen+ newborn screening Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Myofibrillar myopathy;Cardiomyopathy, dilated False 2 0;0;0 1.116 False ENSG00000109846 ENSG00000109846 HGNC:2389 DES gene DES BabySeq Category A gene;BabySeq Category B gene;Expert Review Amber BabyScreen+ newborn screening Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Myopathy, myofibrillar;Cardiomyopathy, dilated False 2 0;0;0 1.116 False ENSG00000175084 ENSG00000175084 HGNC:2770 DMD gene DMD BabySeq Category A gene;BabySeq Category B gene;BeginNGS;Expert Review Amber BabyScreen+ newborn screening Screening X-LINKED: hemizygous mutation in males, biallelic mutations in females Duchenne muscular dystrophy MIM#310200 36278620;36152336;35562557;35307847 False 2 0;100;0 1.116 True ENSG00000198947 ENSG00000198947 HGNC:2928 DSC2 gene DSC2 BabySeq Category B gene;Expert Review Amber BabyScreen+ newborn screening Screening BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal Arrhythmogenic right ventricular dysplasia 11, MIM# 610476;Arrhythmogenic right ventricular dysplasia 11 with mild palmoplantar keratoderma and woolly hair, MIM# 610476 False 2 0;100;0 1.116 True ENSG00000134755 ENSG00000134755 HGNC:3036 DSG2 gene DSG2 BabySeq Category B gene;Expert Review Amber BabyScreen+ newborn screening Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Arrhythmogenic right ventricular dysplasia 10, MIM# 610193 False 2 0;100;0 1.116 True ENSG00000046604 ENSG00000046604 HGNC:3049 DSP gene DSP BabySeq Category A gene;BabySeq Category B gene;BeginNGS;Expert Review Amber BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal Arrhythmogenic right ventricular dysplasia 8, MIM# 607450 False 2 0;100;0 1.116 True ENSG00000096696 ENSG00000096696 HGNC:3052 ERCC6L2 gene ERCC6L2 Expert Review;Expert Review Amber BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal "Bone marrow failure syndrome 2, MIM# 615715" 24507776;27185855 False 2 0;100;0 1.116 True ENSG00000182150 ENSG00000182150 HGNC:26922 F8 gene F8 BabySeq Category A gene;BeginNGS;Expert Review Amber BabyScreen+ newborn screening Screening X-LINKED: hemizygous mutation in males, biallelic mutations in females Haemophilia A, MIM#306700 False 2 0;100;0 1.116 True ENSG00000185010 ENSG00000185010 HGNC:3546 GFAP gene GFAP BabySeq Category A gene;Expert Review Amber BabyScreen+ newborn screening Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Alexander disease, MIM#203450 False 2 0;50;50 1.116 True ENSG00000131095 ENSG00000131095 HGNC:4235 GJA5 gene GJA5 BabySeq Category B gene;Expert Review Amber BabyScreen+ newborn screening Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Atrial fibrillation False 2 0;0;0 1.116 False ENSG00000143140 ENSG00000265107 HGNC:4279 GLDC gene GLDC BabySeq Category A gene;Expert Review Amber BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal Glycine encephalopathy, MIM# 605899 16404748;34513771;35683414 False 2 0;100;0 1.116 True ENSG00000178445 ENSG00000178445 HGNC:4313 GNE gene GNE BabySeq Category A gene;Expert Review Amber BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal Nonaka myopathy, MIM# 605820 False 2 0;0;100 1.116 True ENSG00000159921 ENSG00000159921 HGNC:23657 GPD1L gene GPD1L BabySeq Category B gene;Expert Review Amber BabyScreen+ newborn screening Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Brugada syndrome False 2 0;0;0 1.116 False ENSG00000152642 ENSG00000152642 HGNC:28956 HBA1 gene HBA1 BabySeq Category A gene;BeginNGS;Expert Review Amber BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal Thalassaemia alpha, MIM#604131 False 2 0;100;0 1.116 True ENSG00000206172 ENSG00000206172 HGNC:4823 HBA2 gene HBA2 BabySeq Category A gene;BeginNGS;Expert Review Amber BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal Thalassemia, alpha, MIM#604131 False 2 0;100;0 1.116 True ENSG00000188536 ENSG00000188536 HGNC:4824 HGD gene HGD BabySeq Category A gene;Expert Review Amber BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal Alkaptonuria MIM#203500 34344451;12501223 False 2 0;50;50 1.116 True ENSG00000113924 ENSG00000113924 HGNC:4892 HMGCS2 gene HMGCS2 Expert list;Expert Review Amber BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal HMG-CoA synthase-2 deficiency MIM#605911 PMID: 32259399, 32470406 False 2 0;100;0 1.116 True ENSG00000134240 ENSG00000134240 HGNC:5008 HNF1A gene HNF1A BeginNGS;Expert Review Amber BabyScreen+ newborn screening Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted "MODY, type III , MIM#600496" False 2 0;100;0 1.116 True ENSG00000135100 ENSG00000135100 HGNC:11621 HNF4A gene HNF4A BabySeq Category C gene;BeginNGS;Expert Review Amber BabyScreen+ newborn screening Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted "Fanconi renotubular syndrome 4, with maturity-onset diabetes of the young, MIM# 616026;Hypoglycaemia, hyperinsulinaemic, MIM#125850;MODY, type I, OMIM # 125850" False 2 0;100;0 1.116 True ENSG00000101076 ENSG00000101076 HGNC:5024 IARS gene IARS Expert list;Expert Review Amber BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal Growth retardation, impaired intellectual development, hypotonia, and hepatopathy, MIM#617093 27426735;34194004 False 2 0;100;0 1.116 True ENSG00000196305 ENSG00000196305 HGNC:5330 IFNGR1 gene IFNGR1 Expert list;Expert Review Amber BabyScreen+ newborn screening Screening BOTH monoallelic and biallelic, autosomal or pseudoautosomal Immunodeficiency 27A, mycobacteriosis, AR, MIM# 209950;Immunodeficiency 27B, mycobacteriosis, AD, MIM# 615978 False 2 0;100;0 1.116 True ENSG00000027697 ENSG00000027697 HGNC:5439 IFNGR2 gene IFNGR2 Expert list;Expert Review Amber BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal Immunodeficiency 28, mycobacteriosis, MIM# 614889 False 2 0;100;0 1.116 True ENSG00000159128 ENSG00000159128 HGNC:5440 IKBKG gene IKBKG BabySeq Category A gene;Expert Review Amber BabyScreen+ newborn screening Screening X-LINKED: hemizygous mutation in males, biallelic mutations in females Immunodeficiency 33 (300636) False 2 0;100;0 1.116 True ENSG00000073009 ENSG00000269335 HGNC:5961 JUP gene JUP BabySeq Category A gene;BabySeq Category B gene;Expert Review Amber BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal Arrhythmogenic right ventricular dysplasia 12 MIM# 611528;Naxos disease MIM# 601214 False 2 0;100;0 1.116 True ENSG00000173801 ENSG00000173801 HGNC:6207 KCNE1 gene KCNE1 BabySeq Category A gene;BabySeq Category B gene;Expert Review Amber BabyScreen+ newborn screening Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Long QT syndrome-5;Jervell and Lange-Nielsen syndrome False 2 0;0;0 1.116 False ENSG00000180509 ENSG00000180509 HGNC:6240 KCNE2 gene KCNE2 BabySeq Category B gene;Expert Review Amber BabyScreen+ newborn screening Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Long QT syndrome-6 False 2 0;0;0 1.116 False ENSG00000159197 ENSG00000159197 HGNC:6242 KRIT1 gene KRIT1 Expert list;Expert Review Amber BabyScreen+ newborn screening Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Cerebral cavernous malformations-1 MIM# 116860 PMID: 30061145, 20301470, 27561926 False 2 0;0;0 1.116 False ENSG00000001631 ENSG00000001631 HGNC:1573 LAMP2 gene LAMP2 BabySeq Category A gene;Expert Review Amber BabyScreen+ newborn screening Screening X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Danon disease, MIM# 300257 False 2 67;33;0 1.116 True ENSG00000005893 ENSG00000005893 HGNC:6501 LMNA gene LMNA BabySeq Category A gene;BabySeq Category B gene;Expert Review Amber BabyScreen+ newborn screening Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Charcot-Marie-Tooth disease;Emery-Dreifuss muscular dystrophy 2;Dilated cardiomyopathy False 2 0;0;0 1.116 False ENSG00000160789 ENSG00000160789 HGNC:6636 LOX gene LOX ClinGen;Expert Review Amber BabyScreen+ newborn screening Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Aortic aneurysm, familial thoracic 10, MIM#617168 False 2 0;100;0 1.116 True ENSG00000113083 ENSG00000113083 HGNC:6664 MCFD2 gene MCFD2 BabySeq Category A gene;Expert Review Amber BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal Factor V and factor VIII, combined deficiency of, MIM# 613625 False 2 0;100;0 1.116 True ENSG00000180398 ENSG00000180398 HGNC:18451 MEN1 gene MEN1 BabySeq Category A gene;Expert Review Amber BabyScreen+ newborn screening Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Multiple endocrine neoplasia 1, MIM#131100 False 2 50;0;50 1.116 True ENSG00000133895 ENSG00000133895 HGNC:7010 MYH11 gene MYH11 BabySeq Category B gene;Expert Review Amber BabyScreen+ newborn screening Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Aortic aneurysm, familial thoracic 4, MIM#160745 False 2 0;100;0 1.116 True ENSG00000133392 ENSG00000133392 HGNC:7569 MYL2 gene MYL2 BabySeq Category B gene;Expert Review Amber BabyScreen+ newborn screening Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Cardiomyopathy, familial hypertrophic, 10 False 2 0;0;0 1.116 False ENSG00000111245 ENSG00000111245 HGNC:7583 MYL3 gene MYL3 BabySeq Category B gene;Expert Review Amber BabyScreen+ newborn screening Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Cardiomyopathy, familial hypertrophic, 8 False 2 0;0;0 1.116 False ENSG00000160808 ENSG00000160808 HGNC:7584 MYLK gene MYLK BabySeq Category B gene;Expert Review Amber BabyScreen+ newborn screening Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Aortic aneurysm, familial thoracic 7 False 2 0;0;0 1.116 False ENSG00000065534 ENSG00000065534 HGNC:7590 NAXD gene NAXD Expert list;Expert Review Amber BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 2 MIM#618321 30576410;31755961;32462209;35231119 False 2 0;100;0 1.116 True ENSG00000213995 ENSG00000213995 HGNC:25576 NCF1 gene NCF1 BabySeq Category A gene;BeginNGS;Expert Review Amber BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal Chronic granulomatous disease, MIM#233700 27178966 False 2 50;50;0 1.116 True ENSG00000158517 ENSG00000158517 HGNC:7660 NLRP3 gene NLRP3 Expert Review;Expert Review Amber BabyScreen+ newborn screening Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Familial cold inflammatory syndrome 1, MIM#120100 Muckle-Wells syndrome, MIM#191900 CINCA syndrome, MIM#607115 Deafness, autosomal dominant 34, with or without inflammation, MIM#617772 Keratoendothelitis fugax hereditaria, MIM#148200 25038238 False 2 0;100;0 1.116 True ENSG00000162711 ENSG00000162711 HGNC:16400 PKD1 gene PKD1 BabySeq Category A gene;Expert Review Amber BabyScreen+ newborn screening Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Polycystic kidney disease 1, MIM# 173900 False 2 0;100;0 1.116 True ENSG00000008710 ENSG00000008710 HGNC:9008 PKD2 gene PKD2 BabySeq Category A gene;Expert Review Amber BabyScreen+ newborn screening Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Polycystic kidney disease 2, MIM# 613095 False 2 0;100;0 1.116 True ENSG00000118762 ENSG00000118762 HGNC:9009 PKP2 gene PKP2 BabySeq Category B gene;Expert Review Amber BabyScreen+ newborn screening Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Arrhythmogenic right ventricular dysplasia 9, MIM# 609040 False 2 0;100;0 1.116 True ENSG00000057294 ENSG00000057294 HGNC:9024 PMS2 gene PMS2 BabySeq Category C gene;Expert Review Amber BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal Mismatch repair cancer syndrome 4, MIM# 619101 False 2 0;100;0 1.116 True ENSG00000122512 ENSG00000122512 HGNC:9122 PRKG1 gene PRKG1 ClinGen;Expert Review Amber BabyScreen+ newborn screening Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Aortic aneurysm, familial thoracic 8, MIM#615436 False 2 0;100;0 1.116 True ENSG00000185532 ENSG00000185532 HGNC:9414 PSPH gene PSPH BeginNGS;Expert Review Amber BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal "Phosphoserine phosphatase deficiency, MIM# 614023" 16763900;26589312;29899766 False 2 0;100;0 1.116 True ENSG00000146733 ENSG00000146733 HGNC:9577 RBM20 gene RBM20 BabySeq Category B gene;Expert Review Amber BabyScreen+ newborn screening Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Cardiomyopathy, dilated, 1DD False 2 0;0;0 1.116 False ENSG00000203867 ENSG00000203867 HGNC:27424 RNASEH2A gene RNASEH2A BabySeq Category A gene;Expert Review Amber BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal Aicardi-Goutieres syndrome 4, MIM# 610333 False 2 0;100;0 1.116 True ENSG00000104889 ENSG00000104889 HGNC:18518 RNASEH2B gene RNASEH2B BabySeq Category A gene;Expert Review Amber BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal Aicardi-Goutieres syndrome 2, MIM# 610181 32877590 False 2 0;100;0 1.116 True ENSG00000136104 ENSG00000136104 HGNC:25671 RNASEH2C gene RNASEH2C BabySeq Category A gene;Expert Review Amber BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal Aicardi-Goutieres syndrome 3, MIM# 610329 32877590 False 2 0;100;0 1.116 True ENSG00000172922 ENSG00000172922 HGNC:24116 SAMHD1 gene SAMHD1 BabySeq Category A gene;Expert Review Amber BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal Aicardi-Goutieres syndrome 5, MIM# 612952 32877590 False 2 50;50;0 1.116 True ENSG00000101347 ENSG00000101347 HGNC:15925 SCN5A gene SCN5A BabySeq Category B gene;BeginNGS;Expert Review Amber BabyScreen+ newborn screening Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Long QT syndrome 3 (MIM#603830);Brugada syndrome 1, MIM# 601144 False 2 0;100;0 1.116 True ENSG00000183873 ENSG00000183873 HGNC:10593 SDHAF2 gene SDHAF2 BabySeq Category B gene;Expert Review Amber BabyScreen+ newborn screening Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Hereditary Paraganglioma-Pheochromocytoma Syndromes False 2 0;0;0 1.116 False ENSG00000167985 ENSG00000167985 HGNC:26034 SDHB gene SDHB BabySeq Category B gene;Expert Review Amber BabyScreen+ newborn screening Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Hereditary Paraganglioma-Pheochromocytoma Syndromes False 2 0;0;0 1.116 False ENSG00000117118 ENSG00000117118 HGNC:10681 SDHC gene SDHC BabySeq Category B gene;Expert Review Amber BabyScreen+ newborn screening Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Hereditary Paraganglioma-Pheochromocytoma Syndromes False 2 0;0;0 1.116 False ENSG00000143252 ENSG00000143252 HGNC:10682 SGSH gene SGSH BabySeq Category A gene;Expert Review Amber BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal Mucopolysaccharidosis type IIIA (Sanfilippo A), MIM# 252900 31044143 False 2 0;50;50 1.116 True ENSG00000181523 ENSG00000181523 HGNC:10818 SLC16A1 gene SLC16A1 BabySeq Category C gene;BeginNGS;Expert Review Amber BabyScreen+ newborn screening Screening BOTH monoallelic and biallelic, autosomal or pseudoautosomal "Hyperinsulinemic hypoglycemia, familial, 7, MIM# 610021;Monocarboxylate transporter 1 deficiency" 20301549 False 2 50;50;0 1.116 True ENSG00000155380 ENSG00000155380 HGNC:10922 SLC16A2 gene SLC16A2 BabySeq Category A gene;Expert Review Amber BabyScreen+ newborn screening Screening X-LINKED: hemizygous mutation in males, biallelic mutations in females Allan-Herndon-Dudley syndrome, MIM# 300523 False 2 0;100;0 1.116 True ENSG00000147100 ENSG00000147100 HGNC:10923 SLC25A1 gene SLC25A1 BeginNGS;Expert Review Amber BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal Combined D-2- and L-2-hydroxyglutaric aciduria MIM#: 615182, MONDO:0014072;Myasthenic syndrome, congenital, 23, presynaptic, MIM#618197, MONDO:0032596 20301347 False 2 0;100;0 1.116 True ENSG00000100075 ENSG00000100075 HGNC:10979 SLC35C1 gene SLC35C1 BabySeq Category C gene;Expert Review Amber BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal Congenital disorder of glycosylation, type IIc, MIM# 266265, MONDO:0009953 29702557 False 2 0;100;0 1.116 True ENSG00000181830 ENSG00000181830 HGNC:20197 SLC39A14 gene SLC39A14 Expert Review Amber;Literature BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal Hypermanganesemia with dystonia 2, MIM# 617013 31089831 False 2 0;100;0 1.116 True ENSG00000104635 ENSG00000104635 HGNC:20858 SLC6A5 gene SLC6A5 BabySeq Category A gene;BeginNGS;Expert Review Amber BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal Hyperekplexia 3, MIM#614618 False 2 0;100;0 1.116 True ENSG00000165970 ENSG00000165970 HGNC:11051 SLC6A8 gene SLC6A8 BabySeq Category A gene;Expert Review Amber BabyScreen+ newborn screening Screening X-LINKED: hemizygous mutation in males, biallelic mutations in females Cerebral creatine deficiency syndrome 1, MIM# 300352 24953403 False 2 0;50;50 1.116 True ENSG00000130821 ENSG00000130821 HGNC:11055 SLC9A3 gene SLC9A3 Expert Review Amber;Literature BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal Diarrhoea 8, secretory sodium, congenital, MiM# 616868 False 2 0;100;0 1.116 True ENSG00000066230 ENSG00000066230 HGNC:11073 SMARCAL1 gene SMARCAL1 BabySeq Category A gene;Expert Review Amber BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal Schimke immune-osseous dysplasia MIM# 242900 False 2 0;100;0 1.116 True ENSG00000138375 ENSG00000138375 HGNC:11102 SNTA1 gene SNTA1 BabySeq Category B gene;Expert Review Amber BabyScreen+ newborn screening Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Long QT syndrome False 2 0;0;0 1.116 False ENSG00000101400 ENSG00000101400 HGNC:11167 SOX3 gene SOX3 Expert list;Expert Review Amber BabyScreen+ newborn screening Screening X-LINKED: hemizygous mutation in males, biallelic mutations in females Panhypopituitarism, X-linked MIM#312000 PMID: 31678974, PMID: 15800844 False 2 0;100;0 1.116 True ENSG00000134595 ENSG00000134595 HGNC:11199 SP7 gene SP7 BabySeq Category C gene;Expert Review Amber BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal Osteogenesis imperfecta, type XII, MIM# 613849 36881265 False 2 0;100;0 1.116 True ENSG00000170374 ENSG00000170374 HGNC:17321 SPTLC1 gene SPTLC1 BabySeq Category A gene;Expert Review Amber BabyScreen+ newborn screening Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Neuropathy, hereditary sensory and autonomic, type IA, MIM# 162400 False 2 0;100;0 1.116 True ENSG00000090054 ENSG00000090054 HGNC:11277 STK11 gene STK11 BabySeq Category A gene;Expert Review Amber BabyScreen+ newborn screening Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Peutz-Jeghers syndrome, MIM# 175200 20301443 False 2 0;50;50 1.116 True ENSG00000118046 ENSG00000118046 HGNC:11389 STRC gene STRC BabySeq Category A gene;Expert Review Amber BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal Deafness, autosomal recessive 16, MIM# 603720 False 2 0;100;0 1.116 True ENSG00000242866 ENSG00000242866 HGNC:16035 SUOX gene SUOX BabySeq Category A gene;Expert Review Amber BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal Sulfite oxidase deficiency, MIM# 272300 False 2 0;100;0 1.116 True ENSG00000139531 ENSG00000139531 HGNC:11460 TECRL gene TECRL ClinGen;Expert Review Amber BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal "Ventricular tachycardia, catecholaminergic polymorphic, 3, MIM# 614021" False 2 0;100;0 1.116 True ENSG00000205678 ENSG00000205678 HGNC:27365 TERC gene TERC BabySeq Category B gene;Expert Review Amber BabyScreen+ newborn screening Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Dyskeratosis congenita False 2 0;0;0 1.116 False ENSG00000270141 ENSG00000270141 HGNC:11727 TERT gene TERT BabySeq Category B gene;Expert Review Amber BabyScreen+ newborn screening Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Dyskeratosis congenita False 2 0;0;0 1.116 False ENSG00000164362 ENSG00000164362 HGNC:11730 TINF2 gene TINF2 BabySeq Category B gene;Expert Review Amber BabyScreen+ newborn screening Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Dyskeratosis congenita False 2 0;0;0 1.116 False ENSG00000092330 ENSG00000092330 HGNC:11824 TMEM165 gene TMEM165 Expert list;Expert Review Amber BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal Congenital disorder of glycosylation, type IIk MIM#614727 PMID: 28323990, PMID: 35693943, PMID: 22683087 False 2 0;100;0 1.116 True ENSG00000134851 ENSG00000134851 HGNC:30760 TNFRSF11B gene TNFRSF11B BabySeq Category A gene;Expert Review Amber BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal Paget disease of bone 5, juvenile-onset MIM#239000 25108083;34166796;29080812 False 2 0;100;0 1.116 True ENSG00000164761 ENSG00000164761 HGNC:11909 TNFSF11 gene TNFSF11 BabySeq Category A gene;Expert Review Amber BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal Osteopetrosis, autosomal recessive 2 MIM#259710 17632511;36031188;32940787 False 2 0;50;50 1.116 True ENSG00000120659 ENSG00000120659 HGNC:11926 TNNC1 gene TNNC1 BabySeq Category B gene;Expert Review Amber BabyScreen+ newborn screening Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Cardiomyopathy, dilated False 2 0;0;0 1.116 False ENSG00000114854 ENSG00000114854 HGNC:11943 TNNI3 gene TNNI3 BabySeq Category B gene;Expert Review Amber BabyScreen+ newborn screening Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Familial hypertrophic cardiomyopathy;Cardiomyopathy, dilated False 2 0;0;0 1.116 False ENSG00000129991 ENSG00000129991 HGNC:11947 TNNT2 gene TNNT2 BabySeq Category B gene;Expert Review Amber BabyScreen+ newborn screening Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Familial hypertrophic cardiomyopathy;Cardiomyopathy, dilated False 2 0;0;0 1.116 False ENSG00000118194 ENSG00000118194 HGNC:11949 TOP2B gene TOP2B Expert list;Expert Review Amber BabyScreen+ newborn screening Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted B-cell immunodeficiency, distal limb anomalies, and urogenital malformations MIM#609296 PMID: 31409799, PMID: 35063500, PMID: 32128574, PMID: 33459963 False 2 0;100;0 1.116 True ENSG00000077097 ENSG00000077097 HGNC:11990 TPM1 gene TPM1 BabySeq Category B gene;Expert Review Amber BabyScreen+ newborn screening Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Cardiomyopathy, hypertrophic False 2 0;0;0 1.116 False ENSG00000140416 ENSG00000140416 HGNC:12010 TRDN gene TRDN BabySeq Category C gene;Expert Review Amber BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal Cardiac arrhythmia syndrome, with or without skeletal muscle weakness, MIM# 615441 False 2 0;100;0 1.116 True ENSG00000186439 ENSG00000186439 HGNC:12261 TREX1 gene TREX1 BabySeq Category A gene;Expert Review Amber BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal Aicardi-Goutieres syndrome 1 MIM#225750 20301648;32877590 False 2 0;100;0 1.116 True ENSG00000213689 ENSG00000213689 HGNC:12269 TRNT1 gene TRNT1 Expert list;Expert Review Amber BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal Sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay MIM#616084 PMID: 25193871, PMID: 23553769, PMID: 33936027, PMID: 26494905 False 2 0;100;0 1.116 True ENSG00000072756 ENSG00000072756 HGNC:17341 TRPM4 gene TRPM4 BabySeq Category A gene;Expert Review Amber BabyScreen+ newborn screening Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Progressive familial heart block, type IB 604559 19726882;33381229 False 2 0;100;0 1.116 True ENSG00000130529 ENSG00000130529 HGNC:17993 TTN gene TTN BabySeq Category A gene;BabySeq Category B gene;Expert Review Amber BabyScreen+ newborn screening Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Centronuclear myopathy;Cardiomyopathy, dilated False 2 0;0;0 1.116 False ENSG00000155657 ENSG00000155657 HGNC:12403 UNG gene UNG Expert list;Expert Review Amber BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal Immunodeficiency with hyper IgM, type 5 MIM#608106 PubMed: 12958596, PMID: 15967827, PMID: 19202054, PMID: 16860315 False 2 0;50;50 1.116 True ENSG00000076248 ENSG00000076248 HGNC:12572 USP18 gene USP18 Expert list;Expert Review Amber BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal "Pseudo-TORCH syndrome 2 MIM#617397" PMID: 31940699, 27325888, 12833411 False 2 0;100;0 1.116 True ENSG00000184979 ENSG00000184979 HGNC:12616 VCL gene VCL BabySeq Category B gene;Expert Review Amber BabyScreen+ newborn screening Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Cardiomyopathy, dilated False 2 0;0;0 1.116 False ENSG00000035403 ENSG00000035403 HGNC:12665 VWF gene VWF BabySeq Category B gene;Expert Review Amber BabyScreen+ newborn screening Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted von Willebrand disease False 2 0;0;0 1.116 False ENSG00000110799 ENSG00000110799 HGNC:12726 ZBTB24 gene ZBTB24 Expert list;Expert Review Amber BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal Immunodeficiency-centromeric instability-facial anomalies syndrome 2 MIM#614069 PMID: 28128455, 21906047, 21596365, 23486536 False 2 0;100;0 1.116 True ENSG00000112365 ENSG00000112365 HGNC:21143