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 AAAS gene AAAS Expert Review Green Newborns main panel BIALLELIC, autosomal or pseudoautosomal Achalasia-addisonianism-alacrimia syndrome False 3 0;0;0 0.508 False ENSG00000094914 ENSG00000094914 HGNC:13666 ABCB11 gene ABCB11 Expert Review Green Newborns main panel BIALLELIC, autosomal or pseudoautosomal Cholestasis, progressive familial intrahepatic 2 False 3 0;0;0 0.508 False ENSG00000073734 ENSG00000073734 HGNC:42 ABCB4 gene ABCB4 Expert Review Green Newborns main panel BIALLELIC, autosomal or pseudoautosomal Cholestasis, progressive familial intrahepatic 3 False 3 0;0;0 0.508 False ENSG00000005471 ENSG00000005471 HGNC:45 ABCC6 gene ABCC6 Expert Review Green Newborns main panel BIALLELIC, autosomal or pseudoautosomal Generalized arterial calcification of infancy 2 False 3 0;0;0 0.508 False ENSG00000091262 ENSG00000091262 HGNC:57 ABCC8 gene ABCC8 Expert Review Green Newborns main panel BIALLELIC, autosomal or pseudoautosomal Hyperinsulinemic hypoglycemia, familial, 1 False 3 0;0;0 0.508 False ENSG00000006071 ENSG00000006071 HGNC:59 ABCD1 gene ABCD1 Expert Review Green Newborns main panel X-LINKED: hemizygous mutation in males, biallelic mutations in females Adrenoleukodystrophy False 3 0;0;0 0.508 False ENSG00000101986 ENSG00000101986 HGNC:61 ABCD4 gene ABCD4 Expert Review Green Newborns main panel BIALLELIC, autosomal or pseudoautosomal Methylmalonic aciduria and homocystinuria, cblJ type False 3 0;0;0 0.508 False ENSG00000119688 ENSG00000119688 HGNC:68 ACAD9 gene ACAD9 Expert Review Green Newborns main panel BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex I deficiency, nuclear type 20 False 3 0;0;0 0.508 False ENSG00000177646 ENSG00000177646 HGNC:21497 ACADM gene ACADM Expert Review Green Newborns main panel BIALLELIC, autosomal or pseudoautosomal Medium-chain acyl-CoA dehydrogenase deficiency False 3 0;0;0 0.508 False ENSG00000117054 ENSG00000117054 HGNC:89 ACADVL gene ACADVL Expert Review Green Newborns main panel BIALLELIC, autosomal or pseudoautosomal VLCAD deficiency False 3 0;0;0 0.508 False ENSG00000072778 ENSG00000072778 HGNC:92 ACAT1 gene ACAT1 Expert Review Green Newborns main panel BIALLELIC, autosomal or pseudoautosomal Alpha-methylacetoacetic aciduria False 3 0;0;0 0.508 False ENSG00000075239 ENSG00000075239 HGNC:93 ACOX2 gene ACOX2 Expert Review Green Newborns main panel BIALLELIC, autosomal or pseudoautosomal Congenital bile acid synthesis defect type 6 False 3 0;0;0 0.508 False ENSG00000168306 ENSG00000168306 HGNC:120 ADA gene ADA Expert Review Green Newborns main panel BIALLELIC, autosomal or pseudoautosomal Severe combined immunodeficiency due to ADA deficiency False 3 0;0;0 0.508 False ENSG00000196839 ENSG00000196839 HGNC:186 ADA2 gene ADA2 Expert Review Green Newborns main panel BIALLELIC, autosomal or pseudoautosomal Deficiency of ADA2 (DADA2) False 3 0;0;0 0.508 False ENSG00000093072 ENSG00000093072 HGNC:1839 ADAMTS13 gene ADAMTS13 Expert Review Green Newborns main panel BIALLELIC, autosomal or pseudoautosomal Familial thrombotic thrombocytopenic purpura False 3 0;0;0 0.508 False ENSG00000160323 ENSG00000160323 HGNC:1366 AGL gene AGL Expert Review Green Newborns main panel BIALLELIC, autosomal or pseudoautosomal Glycogen storage disease type III False 3 0;0;0 0.508 False ENSG00000162688 ENSG00000162688 HGNC:321 AGPAT2 gene AGPAT2 Expert Review Green Newborns main panel BIALLELIC, autosomal or pseudoautosomal Congenital generalized lipodystrophy type 1 False 3 0;0;0 0.508 False ENSG00000169692 ENSG00000169692 HGNC:325 AGRN gene AGRN Expert Review Green Newborns main panel BIALLELIC, autosomal or pseudoautosomal Myasthenic syndrome, congenital, 8, with pre- and postsynaptic defects False 3 0;0;0 0.508 False ENSG00000188157 ENSG00000188157 HGNC:329 AGXT gene AGXT Expert Review Green Newborns main panel BIALLELIC, autosomal or pseudoautosomal Hyperoxaluria, primary, type 1 False 3 0;0;0 0.508 False ENSG00000172482 ENSG00000172482 HGNC:341 AICDA gene AICDA Expert Review Green Newborns main panel BIALLELIC, autosomal or pseudoautosomal Immunodeficiency with hyper-IgM, type 2 False 3 0;0;0 0.508 False ENSG00000111732 ENSG00000111732 HGNC:13203 AIRE gene AIRE Expert Review Green Newborns main panel BIALLELIC, autosomal or pseudoautosomal Autoimmune polyendocrinopathy syndrome, type I, with or without reversible metaphyseal dysplasia False 3 0;0;0 0.508 False ENSG00000160224 ENSG00000160224 HGNC:360 AK2 gene AK2 Expert Review Green Newborns main panel BIALLELIC, autosomal or pseudoautosomal Reticular Dysgenesis False 3 0;0;0 0.508 False ENSG00000004455 ENSG00000004455 HGNC:362 AKR1D1 gene AKR1D1 Expert Review Green Newborns main panel BIALLELIC, autosomal or pseudoautosomal Bile acid synthesis defect, congenital, 2 False 3 0;0;0 0.508 False ENSG00000122787 ENSG00000122787 HGNC:388 ALDH7A1 gene ALDH7A1 Expert Review Green Newborns main panel BIALLELIC, autosomal or pseudoautosomal Pyridoxine dependent epilepsy False 3 0;0;0 0.508 False ENSG00000164904 ENSG00000164904 HGNC:877 ALDOB gene ALDOB Expert Review Green Newborns main panel BIALLELIC, autosomal or pseudoautosomal Hereditary fructose intolerance False 3 0;0;0 0.508 False ENSG00000136872 ENSG00000136872 HGNC:417 ALG14 gene ALG14 Expert Review Green Newborns main panel BIALLELIC, autosomal or pseudoautosomal Myasthenic syndrome, congenital, 15, without tubular aggregates False 3 0;0;0 0.508 False ENSG00000172339 ENSG00000172339 HGNC:28287 ALG2 gene ALG2 Expert Review Green Newborns main panel BIALLELIC, autosomal or pseudoautosomal Congenital myasthenic syndrome-14 False 3 0;0;0 0.508 False ENSG00000119523 ENSG00000119523 HGNC:23159 ALPK1 gene ALPK1 Expert Review Green Newborns main panel MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown ROSAH syndrome False 3 0;0;0 0.508 False Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments ENSG00000073331 ENSG00000073331 HGNC:20917 ALPL gene ALPL Expert Review Green Newborns main panel BIALLELIC, autosomal or pseudoautosomal Autosomal recessive hypophosphatasia False 3 0;0;0 0.508 False ENSG00000162551 ENSG00000162551 HGNC:438 AMACR gene AMACR Expert Review Green Newborns main panel BIALLELIC, autosomal or pseudoautosomal Bile acid synthesis defect, congenital, 4 False 3 0;0;0 0.508 False ENSG00000242110 ENSG00000242110 HGNC:451 AMH gene AMH Expert Review Green Newborns main panel BIALLELIC, autosomal or pseudoautosomal Persistent Mullerian duct syndrome, type I False 3 0;0;0 0.508 False ENSG00000104899 ENSG00000104899 HGNC:464 AMHR2 gene AMHR2 Expert Review Green Newborns main panel BIALLELIC, autosomal or pseudoautosomal Persistent Mullerian duct syndrome, type II False 3 0;0;0 0.508 False ENSG00000135409 ENSG00000135409 HGNC:465 AMN gene AMN Expert Review Green Newborns main panel BIALLELIC, autosomal or pseudoautosomal Imerslund-Grasbeck syndrome 2 False 3 0;0;0 0.508 False ENSG00000166126 ENSG00000166126 HGNC:14604 ANOS1 gene ANOS1 Expert Review Green Newborns main panel X-LINKED: hemizygous mutation in males, biallelic mutations in females Hypogonadotropic hypogonadism 1 with or without anosmia (Kallmann syndrome 1) False 3 0;0;0 0.508 False ENSG00000011201 ENSG00000011201 HGNC:6211 AP3B1 gene AP3B1 Expert Review Green Newborns main panel BIALLELIC, autosomal or pseudoautosomal Hermansky-Pudlak syndrome 2 False 3 0;0;0 0.508 False ENSG00000132842 ENSG00000132842 HGNC:566 AP3D1 gene AP3D1 Expert Review Green Newborns main panel BIALLELIC, autosomal or pseudoautosomal Hermansky-Pudlak syndrome 10 False 3 0;0;0 0.508 False ENSG00000065000 ENSG00000065000 HGNC:568 APOA5 gene APOA5 Expert Review Green Newborns main panel BIALLELIC, autosomal or pseudoautosomal apolipoprotein A-V deficiency False 3 0;0;0 0.508 False ENSG00000110243 ENSG00000110243 HGNC:17288 APOB gene APOB Expert Review Green Newborns main panel BIALLELIC, autosomal or pseudoautosomal Hypobetalipoproteinaemia False 3 0;0;0 0.508 False ENSG00000084674 ENSG00000084674 HGNC:603 APOC2 gene APOC2 Expert Review Green Newborns main panel BIALLELIC, autosomal or pseudoautosomal Hyperlipoproteinemia, type Ib False 3 0;0;0 0.508 False ENSG00000234906 ENSG00000234906 HGNC:609 APRT gene APRT Expert Review Green Newborns main panel BIALLELIC, autosomal or pseudoautosomal Adenine phosphoribosyltransferase deficiency False 3 0;0;0 0.508 False ENSG00000198931 ENSG00000198931 HGNC:626 AQP2 gene AQP2 Expert Review Green Newborns main panel BIALLELIC, autosomal or pseudoautosomal Recessive diabetes insipidus, nephrogenic, 2 False 3 0;0;0 0.508 False ENSG00000167580 ENSG00000167580 HGNC:634 ARG1 gene ARG1 Expert Review Green Newborns main panel BIALLELIC, autosomal or pseudoautosomal Argininaemia False 3 0;0;0 0.508 False ENSG00000118520 ENSG00000118520 HGNC:663 ARMC4 gene ARMC4 Expert Review Green Newborns main panel BIALLELIC, autosomal or pseudoautosomal Ciliary dyskinesia, primary, 23 False 3 0;0;0 0.508 False ENSG00000169126 ENSG00000169126 HGNC:25583 ARPC1B gene ARPC1B Expert Review Green Newborns main panel BIALLELIC, autosomal or pseudoautosomal Platelet abnormalities with eosinophilia and immune-mediated inflammatory disease False 3 0;0;0 0.508 False ENSG00000130429 ENSG00000130429 HGNC:704 ARSA gene ARSA Expert Review Green Newborns main panel BIALLELIC, autosomal or pseudoautosomal Metachromatic leukodystrophy False 3 0;0;0 0.508 False ENSG00000100299 ENSG00000100299 HGNC:713 ARSB gene ARSB Expert Review Green Newborns main panel BIALLELIC, autosomal or pseudoautosomal Mucopolysaccharidosis Type VI False 3 0;0;0 0.508 False ENSG00000113273 ENSG00000113273 HGNC:714 ASL gene ASL Expert Review Green Newborns main panel BIALLELIC, autosomal or pseudoautosomal Argininosuccinic aciduria False 3 0;0;0 0.508 False ENSG00000126522 ENSG00000126522 HGNC:746 ASS1 gene ASS1 Expert Review Green Newborns main panel BIALLELIC, autosomal or pseudoautosomal Citrullinaemia False 3 0;0;0 0.508 False ENSG00000130707 ENSG00000130707 HGNC:758 ATP6V0A4 gene ATP6V0A4 Expert Review Green Newborns main panel BIALLELIC, autosomal or pseudoautosomal Distal renal tubular acidosis type 3 with or without sensorineural hearing loss False 3 0;0;0 0.508 False ENSG00000105929 ENSG00000105929 HGNC:866 ATP6V1B1 gene ATP6V1B1 Expert Review Green Newborns main panel BIALLELIC, autosomal or pseudoautosomal Distal renal tubular acidosis type 2 with progressive sensorineural hearing loss False 3 0;0;0 0.508 False ENSG00000116039 ENSG00000116039 HGNC:853 ATP7B gene ATP7B Expert Review Green Newborns main panel BIALLELIC, autosomal or pseudoautosomal Wilson Disease False 3 0;0;0 0.508 False ENSG00000123191 ENSG00000123191 HGNC:870 ATP8B1 gene ATP8B1 Expert Review Green Newborns main panel BIALLELIC, autosomal or pseudoautosomal Cholestasis, progressive familial intrahepatic 1 False 3 0;0;0 0.508 False ENSG00000081923 ENSG00000081923 HGNC:3706 AVP gene AVP Expert Review Green Newborns main panel MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Diabetes insipidus, neurohypophyseal, autosomal dominant False 3 0;0;0 0.508 False ENSG00000101200 ENSG00000101200 HGNC:894 AVPR2 gene AVPR2 Expert Review Green Newborns main panel X-LINKED: hemizygous mutation in males, biallelic mutations in females Diabetes insipidus, nephrogenic, 1 False 3 0;0;0 0.508 False ENSG00000126895 ENSG00000126895 HGNC:897 BAAT gene BAAT Expert Review Green Newborns main panel BIALLELIC, autosomal or pseudoautosomal Bile acid conjugation defect 1 False 3 0;0;0 0.508 False ENSG00000136881 ENSG00000136881 HGNC:932 BCKDHA gene BCKDHA Expert Review Green Newborns main panel BIALLELIC, autosomal or pseudoautosomal Maple syrup urine disease, type Ia False 3 0;0;0 0.508 False ENSG00000248098 ENSG00000248098 HGNC:986 BCKDHB gene BCKDHB Expert Review Green Newborns main panel BIALLELIC, autosomal or pseudoautosomal Maple syrup urine disease, type Ib False 3 0;0;0 0.508 False ENSG00000083123 ENSG00000083123 HGNC:987 BCKDK gene BCKDK Expert Review Green Newborns main panel BIALLELIC, autosomal or pseudoautosomal Branched-chain ketoacid dehydrogenase kinase deficiency False 3 0;0;0 0.508 False ENSG00000103507 ENSG00000103507 HGNC:16902 BLNK gene BLNK Expert Review Green Newborns main panel BIALLELIC, autosomal or pseudoautosomal Agammaglobulinaemia 4 False 3 0;0;0 0.508 False ENSG00000095585 ENSG00000095585 HGNC:14211 BMP1 gene BMP1 Expert Review Green Newborns main panel BIALLELIC, autosomal or pseudoautosomal Osteogenesis imperfecta, type XIII False 3 0;0;0 0.508 False ENSG00000168487 ENSG00000168487 HGNC:1067 BSCL2 gene BSCL2 Expert Review Green Newborns main panel BIALLELIC, autosomal or pseudoautosomal Lipodystrophy, congenital generalized, type 2 False 3 0;0;0 0.508 False ENSG00000168000 ENSG00000168000 HGNC:15832 BTD gene BTD Expert Review Green Newborns main panel BIALLELIC, autosomal or pseudoautosomal Biotinidase deficiency False 3 0;0;0 0.508 False ENSG00000169814 ENSG00000169814 HGNC:1122 BTK gene BTK Expert Review Green Newborns main panel X-LINKED: hemizygous mutation in males, biallelic mutations in females X-linked Agammaglobulinaemia False 3 0;0;0 0.508 False ENSG00000010671 ENSG00000010671 HGNC:1133 C11orf70 gene C11orf70 Expert Review Green Newborns main panel BIALLELIC, autosomal or pseudoautosomal ciliary dyskinesia, primary, 38 False 3 0;0;0 0.508 False ENSG00000137691 ENSG00000137691 HGNC:28188 C17orf62 gene C17orf62 Expert Review Green Newborns main panel BIALLELIC, autosomal or pseudoautosomal Chronic granulomatous disease 5 False 3 0;0;0 0.508 False ENSG00000178927 ENSG00000178927 HGNC:28672 C2 gene C2 Expert Review Green Newborns main panel BIALLELIC, autosomal or pseudoautosomal C2 deficiency False 3 0;0;0 0.508 False ENSG00000166278 ENSG00000166278 HGNC:1248 C21orf59 gene C21orf59 Expert Review Green Newborns main panel BIALLELIC, autosomal or pseudoautosomal Ciliary dyskinesia, primary, 26 False 3 0;0;0 0.508 False ENSG00000159079 ENSG00000159079 HGNC:1301 C3 gene C3 Expert Review Green Newborns main panel BIALLELIC, autosomal or pseudoautosomal C3 deficiency False 3 0;0;0 0.508 False ENSG00000125730 ENSG00000125730 HGNC:1318 C5 gene C5 Expert Review Green Newborns main panel BIALLELIC, autosomal or pseudoautosomal C5 deficiency False 3 0;0;0 0.508 False ENSG00000106804 ENSG00000106804 HGNC:1331 C6 gene C6 Expert Review Green Newborns main panel BIALLELIC, autosomal or pseudoautosomal C6 deficiency False 3 0;0;0 0.508 False ENSG00000039537 ENSG00000039537 HGNC:1339 C7 gene C7 Expert Review Green Newborns main panel BIALLELIC, autosomal or pseudoautosomal C7 deficiency False 3 0;0;0 0.508 False ENSG00000112936 ENSG00000112936 HGNC:1346 C8A gene C8A Expert Review Green Newborns main panel BIALLELIC, autosomal or pseudoautosomal C8 deficiency, type I False 3 0;0;0 0.508 False ENSG00000157131 ENSG00000157131 HGNC:1352 C8B gene C8B Expert Review Green Newborns main panel BIALLELIC, autosomal or pseudoautosomal C8 deficiency, type II False 3 0;0;0 0.508 False ENSG00000021852 ENSG00000021852 HGNC:1353 C9 gene C9 Expert Review Green Newborns main panel BIALLELIC, autosomal or pseudoautosomal C9 deficiency False 3 0;0;0 0.508 False ENSG00000113600 ENSG00000113600 HGNC:1358 CA2 gene CA2 Expert Review Green Newborns main panel BIALLELIC, autosomal or pseudoautosomal Osteopetrosis with renal tubular acidosis False 3 0;0;0 0.508 False ENSG00000104267 ENSG00000104267 HGNC:1373 CA5A gene CA5A Expert Review Green Newborns main panel BIALLELIC, autosomal or pseudoautosomal Hyperammonemia due to carbonic anhydrase VA deficiency False 3 0;0;0 0.508 False ENSG00000174990 ENSG00000174990 HGNC:1377 CAD gene CAD Expert Review Green Newborns main panel BIALLELIC, autosomal or pseudoautosomal Uridine-responsive epileptic encephalopathy False 3 0;0;0 0.508 False ENSG00000084774 ENSG00000084774 HGNC:1424 CASR gene CASR Expert Review Green Newborns main panel BIALLELIC, autosomal or pseudoautosomal Neonatal hyperparathyroidism, Autosomal Recessive False 3 0;0;0 0.508 False ENSG00000036828 ENSG00000036828 HGNC:1514 CAV1 gene CAV1 Expert Review Green Newborns main panel BIALLELIC, autosomal or pseudoautosomal Lipodystrophy, congenital generalized, type 3 False 3 0;0;0 0.508 False ENSG00000105974 ENSG00000105974 HGNC:1527 CAVIN1 gene CAVIN1 Expert Review Green Newborns main panel BIALLELIC, autosomal or pseudoautosomal Lipodystrophy, congenital generalized, type 4 False 3 0;0;0 0.508 False ENSG00000177469 ENSG00000177469 HGNC:9688 CBS gene CBS Expert Review Green Newborns main panel BIALLELIC, autosomal or pseudoautosomal Homocystinuria, B6-responsive and nonresponsive types False 3 0;0;0 0.508 False ENSG00000160200 ENSG00000160200 HGNC:1550 CCBE1 gene CCBE1 Expert Review Green Newborns main panel BIALLELIC, autosomal or pseudoautosomal Hennekam lymphangiectasia-lymphedema syndrome 1 False 3 0;0;0 0.508 False ENSG00000183287 ENSG00000183287 HGNC:29426 CCDC103 gene CCDC103 Expert Review Green Newborns main panel BIALLELIC, autosomal or pseudoautosomal Ciliary dyskinesia, primary, 17 False 3 0;0;0 0.508 False ENSG00000167131 ENSG00000167131 HGNC:32700 CCDC114 gene CCDC114 Expert Review Green Newborns main panel BIALLELIC, autosomal or pseudoautosomal primary ciliary dyskinesia 20 False 3 0;0;0 0.508 False ENSG00000105479 ENSG00000105479 HGNC:26560 CCDC151 gene CCDC151 Expert Review Green Newborns main panel BIALLELIC, autosomal or pseudoautosomal Ciliary dyskinesia, primary, 30 False 3 0;0;0 0.508 False ENSG00000198003 ENSG00000198003 HGNC:28303 CCDC39 gene CCDC39 Expert Review Green Newborns main panel BIALLELIC, autosomal or pseudoautosomal Primary Ciliary Dyskinesia 14 False 3 0;0;0 0.508 False ENSG00000145075 ENSG00000145075 HGNC:25244 CCDC40 gene CCDC40 Expert Review Green Newborns main panel BIALLELIC, autosomal or pseudoautosomal Primary Ciliary Dyskinesia 7 False 3 0;0;0 0.508 False ENSG00000141519 ENSG00000141519 HGNC:26090 CCDC65 gene CCDC65 Expert Review Green Newborns main panel BIALLELIC, autosomal or pseudoautosomal Ciliary dyskinesia, primary, 27 False 3 0;0;0 0.508 False ENSG00000139537 ENSG00000139537 HGNC:29937 CCNO gene CCNO Expert Review Green Newborns main panel BIALLELIC, autosomal or pseudoautosomal primary ciliary dyskinesia 29 False 3 0;0;0 0.508 False ENSG00000152669 ENSG00000152669 HGNC:18576 CD247 gene CD247 Expert Review Green Newborns main panel BIALLELIC, autosomal or pseudoautosomal Immunodeficiency 25, severe combined False 3 0;0;0 0.508 False ENSG00000198821 ENSG00000198821 HGNC:1677 CD3D gene CD3D Expert Review Green Newborns main panel BIALLELIC, autosomal or pseudoautosomal Immunodeficiency 19, severe combined False 3 0;0;0 0.508 False ENSG00000167286 ENSG00000167286 HGNC:1673 CD3E gene CD3E Expert Review Green Newborns main panel BIALLELIC, autosomal or pseudoautosomal Immunodeficiency 18 False 3 0;0;0 0.508 False ENSG00000198851 ENSG00000198851 HGNC:1674 CD3G gene CD3G Expert Review Green Newborns main panel BIALLELIC, autosomal or pseudoautosomal Immunodeficiency 17, CD3 gamma deficient False 3 0;0;0 0.508 False ENSG00000160654 ENSG00000160654 HGNC:1675 CD40 gene CD40 Expert Review Green Newborns main panel BIALLELIC, autosomal or pseudoautosomal Immunodeficiency with hyper-IgM, type 3 False 3 0;0;0 0.508 False ENSG00000101017 ENSG00000101017 HGNC:11919 CD40LG gene CD40LG Expert Review Green Newborns main panel X-LINKED: hemizygous mutation in males, biallelic mutations in females X-linked immunodeficiency with hyper-IgM type 1 False 3 0;0;0 0.508 False ENSG00000102245 ENSG00000102245 HGNC:11935 CD70 gene CD70 Expert Review Green Newborns main panel BIALLELIC, autosomal or pseudoautosomal Lymphoproliferative syndrome 3 False 3 0;0;0 0.508 False ENSG00000125726 ENSG00000125726 HGNC:11937 CD79A gene CD79A Expert Review Green Newborns main panel BIALLELIC, autosomal or pseudoautosomal Agammaglobulinaemia 3 False 3 0;0;0 0.508 False ENSG00000105369 ENSG00000105369 HGNC:1698 CD79B gene CD79B Expert Review Green Newborns main panel BIALLELIC, autosomal or pseudoautosomal Agammaglobulinaemia 6 False 3 0;0;0 0.508 False ENSG00000007312 ENSG00000007312 HGNC:1699 CDCA7 gene CDCA7 Expert Review Green Newborns main panel BIALLELIC, autosomal or pseudoautosomal Immunodeficiency-centromeric instability-facial anomalies syndrome 3 False 3 0;0;0 0.508 False ENSG00000144354 ENSG00000144354 HGNC:14628 CDKN1C gene CDKN1C Expert Review Green Newborns main panel MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown IMAGE syndrome False 3 0;0;0 0.508 False Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments ENSG00000129757 ENSG00000129757 HGNC:1786 CEBPE gene CEBPE Expert Review Green Newborns main panel BIALLELIC, autosomal or pseudoautosomal Specific granule deficiency 1 False 3 0;0;0 0.508 False ENSG00000092067 ENSG00000092067 HGNC:1836 CFD gene CFD Expert Review Green Newborns main panel BIALLELIC, autosomal or pseudoautosomal Complement factor D deficiency False 3 0;0;0 0.508 False ENSG00000197766 ENSG00000197766 HGNC:2771 CFH gene CFH Expert Review Green Newborns main panel BIALLELIC, autosomal or pseudoautosomal Complement factor H deficiency Autosomal recessive False 3 0;0;0 0.508 False ENSG00000000971 ENSG00000000971 HGNC:4883 CFI gene CFI Expert Review Green Newborns main panel BIALLELIC, autosomal or pseudoautosomal Complement factor I deficiency False 3 0;0;0 0.508 False ENSG00000205403 ENSG00000205403 HGNC:5394 CFP gene CFP Expert Review Green Newborns main panel X-LINKED: hemizygous mutation in males, biallelic mutations in females Properdin deficiency, X-linked False 3 0;0;0 0.508 False ENSG00000126759 ENSG00000126759 HGNC:8864 CFTR gene CFTR Expert Review Green Newborns main panel BIALLELIC, autosomal or pseudoautosomal Cystic fibrosis False 3 0;0;0 0.508 False ENSG00000001626 ENSG00000001626 HGNC:1884 CHAT gene CHAT Expert Review Green Newborns main panel BIALLELIC, autosomal or pseudoautosomal Congenital myasthenic syndrome-6 False 3 0;0;0 0.508 False ENSG00000070748 ENSG00000070748 HGNC:1912 CHRNA1 gene CHRNA1 Expert Review Green Newborns main panel BIALLELIC, autosomal or pseudoautosomal Congenital myasthenic syndrome-1, autosomal recessive False 3 0;0;0 0.508 False ENSG00000138435 ENSG00000138435 HGNC:1955 CHRNB1 gene CHRNB1 Expert Review Green Newborns main panel BIALLELIC, autosomal or pseudoautosomal Congenital myasthenic syndrome-2, autosomal recessive False 3 0;0;0 0.508 False ENSG00000170175 ENSG00000170175 HGNC:1961 CHRND gene CHRND Expert Review Green Newborns main panel BIALLELIC, autosomal or pseudoautosomal Congenital myasthenic syndrome-3, autosomal recessive False 3 0;0;0 0.508 False ENSG00000135902 ENSG00000135902 HGNC:1965 CHRNE gene CHRNE Expert Review Green Newborns main panel BIALLELIC, autosomal or pseudoautosomal Myasthenic syndrome, congenital, 4, autosomal recessive False 3 0;0;0 0.508 False ENSG00000108556 ENSG00000108556 HGNC:1966 CIITA gene CIITA Expert Review Green Newborns main panel BIALLELIC, autosomal or pseudoautosomal Bare lymphocyte syndrome, type II, complementation group A False 3 0;0;0 0.508 False ENSG00000179583 ENSG00000179583 HGNC:7067 CLCN7 gene CLCN7 Expert Review Green Newborns main panel BIALLELIC, autosomal or pseudoautosomal Osteopetrosis type 4, autosomal recessive False 3 0;0;0 0.508 False ENSG00000103249 ENSG00000103249 HGNC:2025 CLPB gene CLPB Expert Review Green Newborns main panel MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Neutropenia, severe congenital, 9, autosomal dominant False 3 0;0;0 0.508 False Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments ENSG00000162129 ENSG00000162129 HGNC:30664 COL13A1 gene COL13A1 Expert Review Green Newborns main panel BIALLELIC, autosomal or pseudoautosomal Congenital myasthenic syndrome-19 False 3 0;0;0 0.508 False ENSG00000197467 ENSG00000197467 HGNC:2190 COL1A1 gene COL1A1 Expert Review Green Newborns main panel MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown COL1A1 related Osteogenesis Imperfecta False 3 0;0;0 0.508 False ENSG00000108821 ENSG00000108821 HGNC:2197 COL1A2 gene COL1A2 Expert Review Green Newborns main panel MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown COL1A2 related Osteogenesis Imperfecta False 3 0;0;0 0.508 False ENSG00000164692 ENSG00000164692 HGNC:2198 COL4A3 gene COL4A3 Expert Review Green Newborns main panel BIALLELIC, autosomal or pseudoautosomal COL4A3 related autosomal recessive Alport Syndrome False 3 0;0;0 0.508 False ENSG00000169031 ENSG00000169031 HGNC:2204 COL4A4 gene COL4A4 Expert Review Green Newborns main panel BIALLELIC, autosomal or pseudoautosomal COL4A4 related autosomal recessive Alport Syndrome False 3 0;0;0 0.508 False ENSG00000081052 ENSG00000081052 HGNC:2206 COL4A5 gene COL4A5 Expert Review Green Newborns main panel X-LINKED: hemizygous mutation in males, biallelic mutations in females COL4A5 related X-linked Alport Syndrome False 3 0;0;0 0.508 False ENSG00000188153 ENSG00000188153 HGNC:2207 COLQ gene COLQ Expert Review Green Newborns main panel BIALLELIC, autosomal or pseudoautosomal Congenital myasthenic syndrome-5 False 3 0;0;0 0.508 False ENSG00000206561 ENSG00000206561 HGNC:2226 COQ2 gene COQ2 Expert Review Green Newborns main panel BIALLELIC, autosomal or pseudoautosomal COQ2 related primary coenzyme Q10 deficiency False 3 0;0;0 0.508 False ENSG00000173085 ENSG00000173085 HGNC:25223 COQ4 gene COQ4 Expert Review Green Newborns main panel BIALLELIC, autosomal or pseudoautosomal COQ4 related primary coenzyme Q10 deficiency False 3 0;0;0 0.508 False ENSG00000167113 ENSG00000167113 HGNC:19693 COQ5 gene COQ5 Expert Review Green Newborns main panel BIALLELIC, autosomal or pseudoautosomal COQ5 related primary coenzyme Q10 deficiency False 3 0;0;0 0.508 False ENSG00000110871 ENSG00000110871 HGNC:28722 COQ6 gene COQ6 Expert Review Green Newborns main panel BIALLELIC, autosomal or pseudoautosomal COQ6 related primary coenzyme Q10 deficiency False 3 0;0;0 0.508 False ENSG00000119723 ENSG00000119723 HGNC:20233 COQ7 gene COQ7 Expert Review Green Newborns main panel BIALLELIC, autosomal or pseudoautosomal Coenzyme Q10 deficiency, primary, 8 False 3 0;0;0 0.508 False ENSG00000167186 ENSG00000167186 HGNC:2244 COQ8A gene COQ8A Expert Review Green Newborns main panel BIALLELIC, autosomal or pseudoautosomal Coenzyme Q10 deficiency, primary, 4 False 3 0;0;0 0.508 False ENSG00000163050 ENSG00000163050 HGNC:16812 COQ8B gene COQ8B Expert Review Green Newborns main panel BIALLELIC, autosomal or pseudoautosomal COQ8B related primary coenzyme Q10 deficiency with nephrotic syndrome False 3 0;0;0 0.508 False ENSG00000123815 ENSG00000123815 HGNC:19041 COQ9 gene COQ9 Expert Review Green Newborns main panel BIALLELIC, autosomal or pseudoautosomal Coenzyme Q10 deficiency, primary, 5 False 3 0;0;0 0.508 False ENSG00000088682 ENSG00000088682 HGNC:25302 CORO1A gene CORO1A Expert Review Green Newborns main panel BIALLELIC, autosomal or pseudoautosomal Immunodeficiency 8 False 3 0;0;0 0.508 False ENSG00000102879 ENSG00000102879 HGNC:2252 CPS1 gene CPS1 Expert Review Green Newborns main panel BIALLELIC, autosomal or pseudoautosomal Carbamoyl phosphate synthetase I deficiency False 3 0;0;0 0.508 False ENSG00000021826 ENSG00000021826 HGNC:2323 CPT1A gene CPT1A Expert Review Green Newborns main panel BIALLELIC, autosomal or pseudoautosomal Carnitine palmitoyltransferase I deficiency False 3 0;0;0 0.508 False ENSG00000110090 ENSG00000110090 HGNC:2328 CPT2 gene CPT2 Expert Review Green Newborns main panel BIALLELIC, autosomal or pseudoautosomal Carnitine palmitoyltransferase II deficiency infantile False 3 0;0;0 0.508 False ENSG00000157184 ENSG00000157184 HGNC:2330 CSF3R gene CSF3R Expert Review Green Newborns main panel BIALLELIC, autosomal or pseudoautosomal Severe congenital neutropenia 7 False 3 0;0;0 0.508 False ENSG00000119535 ENSG00000119535 HGNC:2439 CTNS gene CTNS Expert Review Green Newborns main panel BIALLELIC, autosomal or pseudoautosomal Cystinosis, nephropathic False 3 0;0;0 0.508 False ENSG00000040531 ENSG00000040531 HGNC:2518 CTPS1 gene CTPS1 Expert Review Green Newborns main panel BIALLELIC, autosomal or pseudoautosomal Immunodeficiency 24 False 3 0;0;0 0.508 False ENSG00000171793 ENSG00000171793 HGNC:2519 CUBN gene CUBN Expert Review Green Newborns main panel BIALLELIC, autosomal or pseudoautosomal Imerslund-Grasbeck syndrome 1 False 3 0;0;0 0.508 False ENSG00000107611 ENSG00000107611 HGNC:2548 CUL3 gene CUL3 Expert Review Green Newborns main panel MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Pseudohypoaldosteronism, type IIE False 3 0;0;0 0.508 False Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments ENSG00000036257 ENSG00000036257 HGNC:2553 CXCR4 gene CXCR4 Expert Review Green Newborns main panel MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown WHIM syndrome False 3 0;0;0 0.508 False Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments ENSG00000121966 ENSG00000121966 HGNC:2561 CYBA gene CYBA Expert Review Green Newborns main panel BIALLELIC, autosomal or pseudoautosomal Chronic granulomatous disease 4 False 3 0;0;0 0.508 False ENSG00000051523 ENSG00000051523 HGNC:2577 CYBB gene CYBB Expert Review Green Newborns main panel X-LINKED: hemizygous mutation in males, biallelic mutations in females Chronic granulomatous disease x-linked False 3 0;0;0 0.508 False ENSG00000165168 ENSG00000165168 HGNC:2578 CYP11A1 gene CYP11A1 Expert Review Green Newborns main panel BIALLELIC, autosomal or pseudoautosomal Congenital adrenal insufficiency with 46XY DSD False 3 0;0;0 0.508 False ENSG00000140459 ENSG00000140459 HGNC:2590 CYP11B1 gene CYP11B1 Expert Review Green Newborns main panel BIALLELIC, autosomal or pseudoautosomal Adrenal hyperplasia, congenital, due to 11-beta-hydroxylase deficiency False 3 0;0;0 0.508 False ENSG00000160882 ENSG00000160882 HGNC:2591 CYP11B2 gene CYP11B2 Expert Review Green Newborns main panel BIALLELIC, autosomal or pseudoautosomal Hypoaldosteronism, congenital, due to CMO I deficiency False 3 0;0;0 0.508 False ENSG00000179142 ENSG00000179142 HGNC:2592 CYP17A1 gene CYP17A1 Expert Review Green Newborns main panel BIALLELIC, autosomal or pseudoautosomal 17-alpha-hydroxylase/17,20-lyase deficiency False 3 0;0;0 0.508 False ENSG00000148795 ENSG00000148795 HGNC:2593 CYP24A1 gene CYP24A1 Expert Review Green Newborns main panel BIALLELIC, autosomal or pseudoautosomal Hypercalcemia, infantile, 1 False 3 0;0;0 0.508 False ENSG00000019186 ENSG00000019186 HGNC:2602 CYP27A1 gene CYP27A1 Expert Review Green Newborns main panel BIALLELIC, autosomal or pseudoautosomal Cerebrotendinous xanthomatosis False 3 0;0;0 0.508 False ENSG00000135929 ENSG00000135929 HGNC:2605 CYP27B1 gene CYP27B1 Expert Review Green Newborns main panel BIALLELIC, autosomal or pseudoautosomal Vitamin D-dependent rickets, type I False 3 0;0;0 0.508 False ENSG00000111012 ENSG00000111012 HGNC:2606 CYP2R1 gene CYP2R1 Expert Review Green Newborns main panel BIALLELIC, autosomal or pseudoautosomal Rickets due to defect in vitamin D 25-hydroxylation deficiency False 3 0;0;0 0.508 False ENSG00000186104 ENSG00000186104 HGNC:20580 CYP7B1 gene CYP7B1 Expert Review Green Newborns main panel BIALLELIC, autosomal or pseudoautosomal Bile acid synthesis defect, congenital, 3 False 3 0;0;0 0.508 False ENSG00000172817 ENSG00000172817 HGNC:2652 DBT gene DBT Expert Review Green Newborns main panel BIALLELIC, autosomal or pseudoautosomal Maple syrup urine disease, type II False 3 0;0;0 0.508 False ENSG00000137992 ENSG00000137992 HGNC:2698 DCLRE1C gene DCLRE1C Expert Review Green Newborns main panel BIALLELIC, autosomal or pseudoautosomal Severe combined immunodeficiency with sensitivity to ionising radiation False 3 0;0;0 0.508 False ENSG00000152457 ENSG00000152457 HGNC:17642 DDB2 gene DDB2 Expert Review Green Newborns main panel BIALLELIC, autosomal or pseudoautosomal Xeroderma pigmentosum, group E, DDB-negative subtype False 3 0;0;0 0.508 False ENSG00000134574 ENSG00000134574 HGNC:2718 DDC gene DDC Expert Review Green Newborns main panel BIALLELIC, autosomal or pseudoautosomal Aromatic L-amino acid decarboxylase deficiency False 3 0;0;0 0.508 False ENSG00000132437 ENSG00000132437 HGNC:2719 DGAT1 gene DGAT1 Expert Review Green Newborns main panel BIALLELIC, autosomal or pseudoautosomal Diarrhoea 7, protein-losing enteropathy type False 3 0;0;0 0.508 False ENSG00000185000 ENSG00000185000 HGNC:2843 DHFR gene DHFR Expert Review Green Newborns main panel BIALLELIC, autosomal or pseudoautosomal Megaloblastic anaemia due to dihydrofolate reductase deficiency False 3 0;0;0 0.508 False ENSG00000228716 ENSG00000228716 HGNC:2861 DMP1 gene DMP1 Expert Review Green Newborns main panel BIALLELIC, autosomal or pseudoautosomal Hypophosphatemic rickets, AR False 3 0;0;0 0.508 False ENSG00000152592 ENSG00000152592 HGNC:2932 DNAAF1 gene DNAAF1 Expert Review Green Newborns main panel BIALLELIC, autosomal or pseudoautosomal Ciliary dyskinesia, primary, 13 False 3 0;0;0 0.508 False ENSG00000154099 ENSG00000154099 HGNC:30539 DNAAF2 gene DNAAF2 Expert Review Green Newborns main panel BIALLELIC, autosomal or pseudoautosomal Ciliary dyskinesia, primary, 10 False 3 0;0;0 0.508 False ENSG00000165506 ENSG00000165506 HGNC:20188 DNAAF3 gene DNAAF3 Expert Review Green Newborns main panel BIALLELIC, autosomal or pseudoautosomal primary ciliary dyskinesia 2 False 3 0;0;0 0.508 False ENSG00000167646 ENSG00000167646 HGNC:30492 DNAAF4 gene DNAAF4 Expert Review Green Newborns main panel BIALLELIC, autosomal or pseudoautosomal Ciliary dyskinesia, primary, 25 False 3 0;0;0 0.508 False ENSG00000256061 ENSG00000256061 HGNC:21493 DNAAF5 gene DNAAF5 Expert Review Green Newborns main panel BIALLELIC, autosomal or pseudoautosomal Ciliary dyskinesia, primary, 18 False 3 0;0;0 0.508 False ENSG00000164818 ENSG00000164818 HGNC:26013 DNAH11 gene DNAH11 Expert Review Green Newborns main panel BIALLELIC, autosomal or pseudoautosomal Primary Ciliary Dyskinesia 15 False 3 0;0;0 0.508 False ENSG00000105877 ENSG00000105877 HGNC:2942 DNAH5 gene DNAH5 Expert Review Green Newborns main panel BIALLELIC, autosomal or pseudoautosomal Primary Ciliary Dyskinesia 3 False 3 0;0;0 0.508 False ENSG00000039139 ENSG00000039139 HGNC:2950 DNAH9 gene DNAH9 Expert Review Green Newborns main panel BIALLELIC, autosomal or pseudoautosomal Ciliary dyskinesia, primary, 40 False 3 0;0;0 0.508 False ENSG00000007174 ENSG00000007174 HGNC:2953 DNAI1 gene DNAI1 Expert Review Green Newborns main panel BIALLELIC, autosomal or pseudoautosomal Primary Ciliary Dyskinesia 1 False 3 0;0;0 0.508 False ENSG00000122735 ENSG00000122735 HGNC:2954 DNAI2 gene DNAI2 Expert Review Green Newborns main panel BIALLELIC, autosomal or pseudoautosomal primary ciliary dyskinesia 9 False 3 0;0;0 0.508 False ENSG00000171595 ENSG00000171595 HGNC:18744 DNAJC12 gene DNAJC12 Expert Review Green Newborns main panel BIALLELIC, autosomal or pseudoautosomal Mild non-BH4-deficient hyperphenylalaninemia False 3 0;0;0 0.508 False ENSG00000108176 ENSG00000108176 HGNC:28908 DNAJC21 gene DNAJC21 Expert Review Green Newborns main panel BIALLELIC, autosomal or pseudoautosomal DNAJC21 related Shwachman-Diamond syndrome False 3 0;0;0 0.508 False ENSG00000168724 ENSG00000168724 HGNC:27030 DNAL1 gene DNAL1 Expert Review Green Newborns main panel BIALLELIC, autosomal or pseudoautosomal Ciliary dyskinesia, primary, 16 False 3 0;0;0 0.508 False ENSG00000119661 ENSG00000119661 HGNC:23247 DNMT3B gene DNMT3B Expert Review Green Newborns main panel BIALLELIC, autosomal or pseudoautosomal Immunodeficiency-centromeric instability-facial anomalies syndrome 1 False 3 0;0;0 0.508 False ENSG00000088305 ENSG00000088305 HGNC:2979 DOCK2 gene DOCK2 Expert Review Green Newborns main panel BIALLELIC, autosomal or pseudoautosomal Immunodeficiency 40 False 3 0;0;0 0.508 False ENSG00000134516 ENSG00000134516 HGNC:2988 DOCK8 gene DOCK8 Expert Review Green Newborns main panel BIALLELIC, autosomal or pseudoautosomal DOCK8 Deficiency False 3 0;0;0 0.508 False ENSG00000107099 ENSG00000107099 HGNC:19191 DOK7 gene DOK7 Expert Review Green Newborns main panel BIALLELIC, autosomal or pseudoautosomal Congenital myasthenic syndrome-10 False 3 0;0;0 0.508 False ENSG00000175920 ENSG00000175920 HGNC:26594 DPAGT1 gene DPAGT1 Expert Review Green Newborns main panel BIALLELIC, autosomal or pseudoautosomal Congenital myasthenic syndrome-13 False 3 0;0;0 0.508 False ENSG00000172269 ENSG00000172269 HGNC:2995 DRC1 gene DRC1 Expert Review Green Newborns main panel BIALLELIC, autosomal or pseudoautosomal Ciliary dyskinesia, primary, 21 False 3 0;0;0 0.508 False ENSG00000157856 ENSG00000157856 HGNC:24245 DUOX2 gene DUOX2 Expert Review Green Newborns main panel BIALLELIC, autosomal or pseudoautosomal Thyroid dyshormonogenesis 6 False 3 0;0;0 0.508 False ENSG00000140279 ENSG00000140279 HGNC:13273 DUOXA2 gene DUOXA2 Expert Review Green Newborns main panel BIALLELIC, autosomal or pseudoautosomal Thyroid dyshormonogenesis 5 False 3 0;0;0 0.508 False ENSG00000140274 ENSG00000140274 HGNC:32698 EDA gene EDA Expert Review Green Newborns main panel X-LINKED: hemizygous mutation in males, biallelic mutations in females Ectodermal dysplasia 1, hypohidrotic, X-linked False 3 0;0;0 0.508 False ENSG00000158813 ENSG00000158813 HGNC:3157 EDAR gene EDAR Expert Review Green Newborns main panel BIALLELIC, autosomal or pseudoautosomal Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive False 3 0;0;0 0.508 False ENSG00000135960 ENSG00000135960 HGNC:2895 EDARADD gene EDARADD Expert Review Green Newborns main panel BIALLELIC, autosomal or pseudoautosomal Ectodermal dysplasia 11B, hypohidrotic/hair/tooth type, autosomal recessive False 3 0;0;0 0.508 False ENSG00000186197 ENSG00000186197 HGNC:14341 EFL1 gene EFL1 Expert Review Green Newborns main panel BIALLELIC, autosomal or pseudoautosomal Shwachman-Diamond syndrome 2 False 3 0;0;0 0.508 False ENSG00000140598 ENSG00000140598 HGNC:25789 EIF2AK3 gene EIF2AK3 Expert Review Green Newborns main panel BIALLELIC, autosomal or pseudoautosomal multiple epiphyseal dysplasia with early onset diabetes mellitus, Wolcott-Rallison syndrome False 3 0;0;0 0.508 False ENSG00000172071 ENSG00000172071 HGNC:3255 ELANE gene ELANE Expert Review Green Newborns main panel MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Neutropenia, severe congenital 1, autosomal dominant False 3 0;0;0 0.508 False Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments ENSG00000197561 ENSG00000197561 HGNC:3309 ENPP1 gene ENPP1 Expert Review Green Newborns main panel BIALLELIC, autosomal or pseudoautosomal Arterial calcification, generalized, of infancy, 1 False 3 0;0;0 0.508 False ENSG00000197594 ENSG00000197594 HGNC:3356 ERCC2 gene ERCC2 Expert Review Green Newborns main panel BIALLELIC, autosomal or pseudoautosomal Xeroderma pigmentosum, group D False 3 0;0;0 0.508 False ENSG00000104884 ENSG00000104884 HGNC:3434 ERCC3 gene ERCC3 Expert Review Green Newborns main panel BIALLELIC, autosomal or pseudoautosomal Xeroderma pigmentosum, group B False 3 0;0;0 0.508 False ENSG00000163161 ENSG00000163161 HGNC:3435 ERCC5 gene ERCC5 Expert Review Green Newborns main panel BIALLELIC, autosomal or pseudoautosomal Xeroderma pigmentosum, group G False 3 0;0;0 0.508 False ENSG00000134899 ENSG00000134899 HGNC:3437 ETFA gene ETFA Expert Review Green Newborns main panel BIALLELIC, autosomal or pseudoautosomal Glutaric acidaemia type IIA False 3 0;0;0 0.508 False ENSG00000140374 ENSG00000140374 HGNC:3481 ETFB gene ETFB Expert Review Green Newborns main panel BIALLELIC, autosomal or pseudoautosomal Glutaric acidaemia type IIB False 3 0;0;0 0.508 False ENSG00000105379 ENSG00000105379 HGNC:3482 ETFDH gene ETFDH Expert Review Green Newborns main panel BIALLELIC, autosomal or pseudoautosomal Glutaric acidaemia type IIC False 3 0;0;0 0.508 False ENSG00000171503 ENSG00000171503 HGNC:3483 F10 gene F10 Expert Review Green Newborns main panel BIALLELIC, autosomal or pseudoautosomal Factor X deficiency False 3 0;0;0 0.508 False ENSG00000126218 ENSG00000126218 HGNC:3528 F13A1 gene F13A1 Expert Review Green Newborns main panel BIALLELIC, autosomal or pseudoautosomal Factor XIIIA deficiency False 3 0;0;0 0.508 False ENSG00000124491 ENSG00000124491 HGNC:3531 F13B gene F13B Expert Review Green Newborns main panel BIALLELIC, autosomal or pseudoautosomal Factor XIIIB deficiency False 3 0;0;0 0.508 False ENSG00000143278 ENSG00000143278 HGNC:3534 F2 gene F2 Expert Review Green Newborns main panel BIALLELIC, autosomal or pseudoautosomal Congenital Prothrombin deficiency False 3 0;0;0 0.508 False ENSG00000180210 ENSG00000180210 HGNC:3535 F5 gene F5 Expert Review Green Newborns main panel BIALLELIC, autosomal or pseudoautosomal Factor V deficiency False 3 0;0;0 0.508 False ENSG00000198734 ENSG00000198734 HGNC:3542 F7 gene F7 Expert Review Green Newborns main panel BIALLELIC, autosomal or pseudoautosomal Factor VII deficiency False 3 0;0;0 0.508 False ENSG00000057593 ENSG00000057593 HGNC:3544 F8 gene F8 Expert Review Green Newborns main panel X-LINKED: hemizygous mutation in males, biallelic mutations in females Haemophilia A False 3 0;0;0 0.508 False ENSG00000185010 ENSG00000185010 HGNC:3546 F9 gene F9 Expert Review Green Newborns main panel X-LINKED: hemizygous mutation in males, biallelic mutations in females Haemophilia B False 3 0;0;0 0.508 False ENSG00000101981 ENSG00000101981 HGNC:3551 FAH gene FAH Expert Review Green Newborns main panel BIALLELIC, autosomal or pseudoautosomal Tyrosinemia, type I False 3 0;0;0 0.508 False ENSG00000103876 ENSG00000103876 HGNC:3579 FAM111A gene FAM111A Expert Review Green Newborns main panel MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Kenny-Caffey syndrome, type 2 False 3 0;0;0 0.508 False Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments ENSG00000166801 ENSG00000166801 HGNC:24725 FBP1 gene FBP1 Expert Review Green Newborns main panel BIALLELIC, autosomal or pseudoautosomal Fructose-1,6-bisphosphatase deficiency False 3 0;0;0 0.508 False ENSG00000165140 ENSG00000165140 HGNC:3606 FCHO1 gene FCHO1 Expert Review Green Newborns main panel BIALLELIC, autosomal or pseudoautosomal Immunodeficiency 76 False 3 0;0;0 0.508 False ENSG00000130475 ENSG00000130475 HGNC:29002 FECH gene FECH Expert Review Green Newborns main panel BIALLELIC, autosomal or pseudoautosomal Protoporphyria, erythropoietic, 1 False 3 0;0;0 0.508 False ENSG00000066926 ENSG00000066926 HGNC:3647 FERMT3 gene FERMT3 Expert Review Green Newborns main panel BIALLELIC, autosomal or pseudoautosomal Leukocyte adhesion deficiency, type III False 3 0;0;0 0.508 False ENSG00000149781 ENSG00000149781 HGNC:23151 FGA gene FGA Expert Review Green Newborns main panel BIALLELIC, autosomal or pseudoautosomal FGA related afibrinogenaemia False 3 0;0;0 0.508 False ENSG00000171560 ENSG00000171560 HGNC:3661 FGB gene FGB Expert Review Green Newborns main panel BIALLELIC, autosomal or pseudoautosomal FGB related afibrinogenaemia False 3 0;0;0 0.508 False ENSG00000171564 ENSG00000171564 HGNC:3662 FGF23 gene FGF23 Expert Review Green Newborns main panel BIALLELIC, autosomal or pseudoautosomal Tumoral calcinosis, hyperphosphatemic, familial, 2 False 3 0;0;0 0.508 False ENSG00000118972 ENSG00000118972 HGNC:3680 FGG gene FGG Expert Review Green Newborns main panel BIALLELIC, autosomal or pseudoautosomal FGG related afibrinogenaemia False 3 0;0;0 0.508 False ENSG00000171557 ENSG00000171557 HGNC:3694 FKBP10 gene FKBP10 Expert Review Green Newborns main panel BIALLELIC, autosomal or pseudoautosomal Osteogenesis imperfecta, type XI False 3 0;0;0 0.508 False ENSG00000141756 ENSG00000141756 HGNC:18169 FLAD1 gene FLAD1 Expert Review Green Newborns main panel BIALLELIC, autosomal or pseudoautosomal Lipid storage myopathy due to flavin adenine dinucleotide synthetase deficiency False 3 0;0;0 0.508 False ENSG00000160688 ENSG00000160688 HGNC:24671 FOLR1 gene FOLR1 Expert Review Green Newborns main panel BIALLELIC, autosomal or pseudoautosomal Neurodegeneration due to cerebral folate transport deficiency False 3 0;0;0 0.508 False ENSG00000110195 ENSG00000110195 HGNC:3791 FOXE1 gene FOXE1 Expert Review Green Newborns main panel BIALLELIC, autosomal or pseudoautosomal Bamforth-Lazarus syndrome False 3 0;0;0 0.508 False ENSG00000178919 ENSG00000178919 HGNC:3806 FOXJ1 gene FOXJ1 Expert Review Green Newborns main panel MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown ciliary dyskinesia, primary, 43 False 3 0;0;0 0.508 False ENSG00000129654 ENSG00000129654 HGNC:3816 FOXN1 gene FOXN1 Expert Review Green Newborns main panel BIALLELIC, autosomal or pseudoautosomal T-cell immunodeficiency, congenital alopecia, and nail dystrophy False 3 0;0;0 0.508 False ENSG00000109101 ENSG00000109101 HGNC:12765 FOXP3 gene FOXP3 Expert Review Green Newborns main panel X-LINKED: hemizygous mutation in males, biallelic mutations in females X-linked immunodysregulation, polyendocrinopathy, and enteropathy False 3 0;0;0 0.508 False ENSG00000049768 ENSG00000049768 HGNC:6106 G6PC gene G6PC Expert Review Green Newborns main panel BIALLELIC, autosomal or pseudoautosomal Glycogen storage disease type Ia False 3 0;0;0 0.508 False ENSG00000131482 ENSG00000131482 HGNC:4056 G6PC3 gene G6PC3 Expert Review Green Newborns main panel BIALLELIC, autosomal or pseudoautosomal Severe congenital neutropenia 4 False 3 0;0;0 0.508 False ENSG00000141349 ENSG00000141349 HGNC:24861 GAA gene GAA Expert Review Green Newborns main panel BIALLELIC, autosomal or pseudoautosomal Glycogen storage disease type II False 3 0;0;0 0.508 False ENSG00000171298 ENSG00000171298 HGNC:4065 GALE gene GALE Expert Review Green Newborns main panel BIALLELIC, autosomal or pseudoautosomal Galactose epimerase deficiency False 3 0;0;0 0.508 False ENSG00000117308 ENSG00000117308 HGNC:4116 GALK1 gene GALK1 Expert Review Green Newborns main panel BIALLELIC, autosomal or pseudoautosomal Galactokinase deficiency with cataracts False 3 0;0;0 0.508 False ENSG00000108479 ENSG00000108479 HGNC:4118 GALNS gene GALNS Expert Review Green Newborns main panel BIALLELIC, autosomal or pseudoautosomal Mucopolysaccharidosis Type IVA False 3 0;0;0 0.508 False ENSG00000141012 ENSG00000141012 HGNC:4122 GALNT3 gene GALNT3 Expert Review Green Newborns main panel BIALLELIC, autosomal or pseudoautosomal Tumoral calcinosis, hyperphosphatemic, familial, 1 False 3 0;0;0 0.508 False ENSG00000115339 ENSG00000115339 HGNC:4125 GALT gene GALT Expert Review Green Newborns main panel BIALLELIC, autosomal or pseudoautosomal Galactosaemia False 3 0;0;0 0.508 False ENSG00000213930 ENSG00000213930 HGNC:4135 GAMT gene GAMT Expert Review Green Newborns main panel BIALLELIC, autosomal or pseudoautosomal Cerebral creatine deficiency syndrome 2 False 3 0;0;0 0.508 False ENSG00000130005 ENSG00000130005 HGNC:4136 GAS8 gene GAS8 Expert Review Green Newborns main panel BIALLELIC, autosomal or pseudoautosomal Ciliary dyskinesia, primary, 33 False 3 0;0;0 0.508 False ENSG00000141013 ENSG00000141013 HGNC:4166 GATA3 gene GATA3 Expert Review Green Newborns main panel MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Hypoparathyroidism, sensorineural deafness, and renal dysplasia False 3 0;0;0 0.508 False ENSG00000107485 ENSG00000107485 HGNC:4172 GATM gene GATM Expert Review Green Newborns main panel BIALLELIC, autosomal or pseudoautosomal Cerebral creatine deficiency syndrome 3 False 3 0;0;0 0.508 False ENSG00000171766 ENSG00000171766 HGNC:4175 GCDH gene GCDH Expert Review Green Newborns main panel BIALLELIC, autosomal or pseudoautosomal Glutaric aciduria, type I False 3 0;0;0 0.508 False ENSG00000105607 ENSG00000105607 HGNC:4189 GCK gene GCK Expert Review Green Newborns main panel BIALLELIC, autosomal or pseudoautosomal Diabetes mellitus, permanent neonatal 1 False 3 0;0;0 0.508 False ENSG00000106633 ENSG00000106633 HGNC:4195 GCM2 gene GCM2 Expert Review Green Newborns main panel BIALLELIC, autosomal or pseudoautosomal familial isolated hypoparathyroidism 2, Autosomal Recessive False 3 0;0;0 0.508 False ENSG00000124827 ENSG00000124827 HGNC:4198 GFI1 gene GFI1 Expert Review Green Newborns main panel MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Severe congenital neutropenia 2 False 3 0;0;0 0.508 False Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments ENSG00000162676 ENSG00000162676 HGNC:4237 GFPT1 gene GFPT1 Expert Review Green Newborns main panel BIALLELIC, autosomal or pseudoautosomal Congenital myasthenic syndrome-12 False 3 0;0;0 0.508 False ENSG00000198380 ENSG00000198380 HGNC:4241 GH1 gene GH1 Expert Review Green Newborns main panel BIALLELIC, autosomal or pseudoautosomal Isolated growth hormone deficiency type 1A, autosomal recessive False 3 0;0;0 0.508 False ENSG00000259384 ENSG00000259384 HGNC:4261 GHR gene GHR Expert Review Green Newborns main panel BIALLELIC, autosomal or pseudoautosomal Growth hormone receptor deficiency False 3 0;0;0 0.508 False ENSG00000112964 ENSG00000112964 HGNC:4263 GHRHR gene GHRHR Expert Review Green Newborns main panel BIALLELIC, autosomal or pseudoautosomal Isolated growth hormone deficiency type 4 False 3 0;0;0 0.508 False ENSG00000106128 ENSG00000106128 HGNC:4266 GIF gene GIF Expert Review Green Newborns main panel BIALLELIC, autosomal or pseudoautosomal Intrinsic factor deficiency False 3 0;0;0 0.508 False ENSG00000134812 ENSG00000134812 HGNC:4268 GLIS3 gene GLIS3 Expert Review Green Newborns main panel BIALLELIC, autosomal or pseudoautosomal Diabetes mellitus, neonatal, with congenital hypothyroidism False 3 0;0;0 0.508 False ENSG00000107249 ENSG00000107249 HGNC:28510 GLUD1 gene GLUD1 Expert Review Green Newborns main panel MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Hyperinsulinism-hyperammonaemia syndrome False 3 0;0;0 0.508 False Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments ENSG00000148672 ENSG00000148672 HGNC:4335 GNRH1 gene GNRH1 Expert Review Green Newborns main panel BIALLELIC, autosomal or pseudoautosomal Hypogonadotropic hypogonadism 12 with or without anosmia False 3 0;0;0 0.508 False ENSG00000147437 ENSG00000147437 HGNC:4419 GP1BA gene GP1BA Expert Review Green Newborns main panel BIALLELIC, autosomal or pseudoautosomal Bernard-Soulier syndrome, type A1 (recessive) False 3 0;0;0 0.508 False ENSG00000185245 ENSG00000185245 HGNC:4439 GP1BB gene GP1BB Expert Review Green Newborns main panel BIALLELIC, autosomal or pseudoautosomal Bernard-Soulier syndrome, type B False 3 0;0;0 0.508 False ENSG00000203618 ENSG00000203618 HGNC:4440 GP9 gene GP9 Expert Review Green Newborns main panel BIALLELIC, autosomal or pseudoautosomal Bernard-Soulier syndrome, type C False 3 0;0;0 0.508 False ENSG00000169704 ENSG00000169704 HGNC:4444 GPIHBP1 gene GPIHBP1 Expert Review Green Newborns main panel BIALLELIC, autosomal or pseudoautosomal Hyperlipoproteinemia, type 1D False 3 0;0;0 0.508 False ENSG00000182851 ENSG00000277494 HGNC:24945 GPR101 gene GPR101 Expert Review Green Newborns main panel X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Growth hormone-secreting pituitary adenoma-2 False 3 0;0;0 0.508 False Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments ENSG00000165370 ENSG00000165370 HGNC:14963 GRHPR gene GRHPR Expert Review Green Newborns main panel BIALLELIC, autosomal or pseudoautosomal Hyperoxaluria, primary, type II False 3 0;0;0 0.508 False ENSG00000137106 ENSG00000137106 HGNC:4570 GUSB gene GUSB Expert Review Green Newborns main panel BIALLELIC, autosomal or pseudoautosomal Mucopolysaccharidosis type VII False 3 0;0;0 0.508 False ENSG00000169919 ENSG00000169919 HGNC:4696 HADH gene HADH Expert Review Green Newborns main panel BIALLELIC, autosomal or pseudoautosomal Familial hyperinsulinemic hypoglycemia-4 False 3 0;0;0 0.508 False ENSG00000138796 ENSG00000138796 HGNC:4799 HADHA gene HADHA Expert Review Green Newborns main panel BIALLELIC, autosomal or pseudoautosomal LCHAD deficiency False 3 0;0;0 0.508 False ENSG00000084754 ENSG00000084754 HGNC:4801 HADHB gene HADHB Expert Review Green Newborns main panel BIALLELIC, autosomal or pseudoautosomal Mitochondrial trifunctional protein deficiency 2 False 3 0;0;0 0.508 False ENSG00000138029 ENSG00000138029 HGNC:4803 HAX1 gene HAX1 Expert Review Green Newborns main panel BIALLELIC, autosomal or pseudoautosomal Neutropenia, severe congenital 3, autosomal recessive False 3 0;0;0 0.508 False ENSG00000143575 ENSG00000143575 HGNC:16915 HBB gene HBB Expert Review Green Newborns main panel BIALLELIC, autosomal or pseudoautosomal Beta Thalassaemia False 3 0;0;0 0.508 False ENSG00000244734 ENSG00000244734 HGNC:4827 HELLS gene HELLS Expert Review Green Newborns main panel BIALLELIC, autosomal or pseudoautosomal Immunodeficiency-centromeric instability-facial anomalies syndrome 4 False 3 0;0;0 0.508 False ENSG00000119969 ENSG00000119969 HGNC:4861 HESX1 gene HESX1 Expert Review Green Newborns main panel BIALLELIC, autosomal or pseudoautosomal Pituitary hormone deficiency, combined, 5 False 3 0;0;0 0.508 False ENSG00000163666 ENSG00000163666 HGNC:4877 HK1 gene HK1 Expert Review Green Newborns main panel MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown HK1 related hyperinsulinism False 3 0;0;0 0.508 False Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments ENSG00000156515 ENSG00000156515 HGNC:4922 HLCS gene HLCS Expert Review Green Newborns main panel BIALLELIC, autosomal or pseudoautosomal Holocarboxylase synthetase deficiency False 3 0;0;0 0.508 False ENSG00000159267 ENSG00000159267 HGNC:4976 HMGCL gene HMGCL Expert Review Green Newborns main panel BIALLELIC, autosomal or pseudoautosomal HMG-CoA lyase deficiency False 3 0;0;0 0.508 False ENSG00000117305 ENSG00000117305 HGNC:5005 HMGCS2 gene HMGCS2 Expert Review Green Newborns main panel BIALLELIC, autosomal or pseudoautosomal HMG-CoA synthase-2 deficiency False 3 0;0;0 0.508 False ENSG00000134240 ENSG00000134240 HGNC:5008 HOGA1 gene HOGA1 Expert Review Green Newborns main panel BIALLELIC, autosomal or pseudoautosomal Hyperoxaluria, primary, type III False 3 0;0;0 0.508 False ENSG00000241935 ENSG00000241935 HGNC:25155 HSD11B2 gene HSD11B2 Expert Review Green Newborns main panel BIALLELIC, autosomal or pseudoautosomal Apparent mineralocorticoid excess False 3 0;0;0 0.508 False ENSG00000176387 ENSG00000176387 HGNC:5209 HSD3B2 gene HSD3B2 Expert Review Green Newborns main panel BIALLELIC, autosomal or pseudoautosomal Adrenal hyperplasia, congenital, due to 3-beta-hydroxysteroid dehydrogenase 2 deficiency False 3 0;0;0 0.508 False ENSG00000203859 ENSG00000203859 HGNC:5218 HSD3B7 gene HSD3B7 Expert Review Green Newborns main panel BIALLELIC, autosomal or pseudoautosomal Bile acid synthesis defect, congenital, 1 False 3 0;0;0 0.508 False ENSG00000099377 ENSG00000099377 HGNC:18324 HYDIN gene HYDIN Expert Review Green Newborns main panel BIALLELIC, autosomal or pseudoautosomal primary ciliary dyskinesia 5 False 3 0;0;0 0.508 False ENSG00000157423 ENSG00000157423 HGNC:19368 IDS gene IDS Expert Review Green Newborns main panel X-LINKED: hemizygous mutation in males, biallelic mutations in females Mucopolysaccharidosis Type II False 3 0;0;0 0.508 False ENSG00000010404 ENSG00000010404 HGNC:5389 IDUA gene IDUA Expert Review Green Newborns main panel BIALLELIC, autosomal or pseudoautosomal Mucopolysaccharidosis Type I False 3 0;0;0 0.508 False ENSG00000127415 ENSG00000127415 HGNC:5391 IFITM5 gene IFITM5 Expert Review Green Newborns main panel MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Osteogenesis Imperfecta type V False 3 0;0;0 0.508 False Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments ENSG00000206013 ENSG00000206013 HGNC:16644 IFNGR1 gene IFNGR1 Expert Review Green Newborns main panel BIALLELIC, autosomal or pseudoautosomal Immunodeficiency 27A, mycobacteriosis, autosomal recessive False 3 0;0;0 0.508 False ENSG00000027697 ENSG00000027697 HGNC:5439 IFNGR2 gene IFNGR2 Expert Review Green Newborns main panel BIALLELIC, autosomal or pseudoautosomal Immunodeficiency 28, mycobacteriosis False 3 0;0;0 0.508 False ENSG00000159128 ENSG00000159128 HGNC:5440 IGF1 gene IGF1 Expert Review Green Newborns main panel BIALLELIC, autosomal or pseudoautosomal Insulin-like growth factor I deficiency False 3 0;0;0 0.508 False ENSG00000017427 ENSG00000017427 HGNC:5464 IGHM gene IGHM Expert Review Green Newborns main panel BIALLELIC, autosomal or pseudoautosomal Agammaglobulinaemia 1 False 3 0;0;0 0.508 False ENSG00000211899 ENSG00000211899 HGNC:5541 IGLL1 gene IGLL1 Expert Review Green Newborns main panel BIALLELIC, autosomal or pseudoautosomal Agammaglobulinaemia 2 False 3 0;0;0 0.508 False ENSG00000128322 ENSG00000128322 HGNC:5870 IGSF1 gene IGSF1 Expert Review Green Newborns main panel X-LINKED: hemizygous mutation in males, biallelic mutations in females Hypothyroidism, central, and testicular enlargement False 3 0;0;0 0.508 False ENSG00000147255 ENSG00000147255 HGNC:5948 IKBKB gene IKBKB Expert Review Green Newborns main panel BIALLELIC, autosomal or pseudoautosomal Immunodeficiency 15B False 3 0;0;0 0.508 False ENSG00000104365 ENSG00000104365 HGNC:5960 IL10 gene IL10 Expert Review Green Newborns main panel BIALLELIC, autosomal or pseudoautosomal Interleukin-10 deficiency False 3 0;0;0 0.508 False ENSG00000136634 ENSG00000136634 HGNC:5962 IL10RA gene IL10RA Expert Review Green Newborns main panel BIALLELIC, autosomal or pseudoautosomal Inflammatory bowel disease 28 False 3 0;0;0 0.508 False ENSG00000110324 ENSG00000110324 HGNC:5964 IL10RB gene IL10RB Expert Review Green Newborns main panel BIALLELIC, autosomal or pseudoautosomal Inflammatory bowel disease 25 False 3 0;0;0 0.508 False ENSG00000243646 ENSG00000243646 HGNC:5965 IL12B gene IL12B Expert Review Green Newborns main panel BIALLELIC, autosomal or pseudoautosomal Immunodeficiency 29, mycobacteriosis False 3 0;0;0 0.508 False ENSG00000113302 ENSG00000113302 HGNC:5970 IL12RB1 gene IL12RB1 Expert Review Green Newborns main panel BIALLELIC, autosomal or pseudoautosomal Immunodeficiency 30 False 3 0;0;0 0.508 False ENSG00000096996 ENSG00000096996 HGNC:5971 IL2RA gene IL2RA Expert Review Green Newborns main panel BIALLELIC, autosomal or pseudoautosomal Immunodeficiency 41 with lymphoproliferation and autoimmunity False 3 0;0;0 0.508 False ENSG00000134460 ENSG00000134460 HGNC:6008 IL2RB gene IL2RB Expert Review Green Newborns main panel BIALLELIC, autosomal or pseudoautosomal Immunodeficiency 63 with lymphoproliferation and autoimmunity False 3 0;0;0 0.508 False ENSG00000100385 ENSG00000100385 HGNC:6009 IL2RG gene IL2RG Expert Review Green Newborns main panel X-LINKED: hemizygous mutation in males, biallelic mutations in females SCID X-Linked False 3 0;0;0 0.508 False ENSG00000147168 ENSG00000147168 HGNC:6010 IL7R gene IL7R Expert Review Green Newborns main panel BIALLELIC, autosomal or pseudoautosomal Immunodeficiency 104, severe combined False 3 0;0;0 0.508 False ENSG00000168685 ENSG00000168685 HGNC:6024 INS gene INS Expert Review Green Newborns main panel BIALLELIC, autosomal or pseudoautosomal Autosomal recessive diabetes mellitus, permanent neonatal 4 False 3 0;0;0 0.508 False ENSG00000254647 ENSG00000254647 HGNC:6081 IRAK4 gene IRAK4 Expert Review Green Newborns main panel BIALLELIC, autosomal or pseudoautosomal IRAK4 deficiency False 3 0;0;0 0.508 False ENSG00000198001 ENSG00000198001 HGNC:17967 IRF8 gene IRF8 Expert Review Green Newborns main panel BIALLELIC, autosomal or pseudoautosomal Immunodeficiency 32B False 3 0;0;0 0.508 False ENSG00000140968 ENSG00000140968 HGNC:5358 IRS4 gene IRS4 Expert Review Green Newborns main panel X-LINKED: hemizygous mutation in males, biallelic mutations in females Hypothyroidism, congenital, nongoitrous, 9 False 3 0;0;0 0.508 False ENSG00000133124 ENSG00000133124 HGNC:6128 ITCH gene ITCH Expert Review Green Newborns main panel BIALLELIC, autosomal or pseudoautosomal Autoimmune disease, multisystem, with facial dysmorphism False 3 0;0;0 0.508 False ENSG00000078747 ENSG00000078747 HGNC:13890 ITGA2B gene ITGA2B Expert Review Green Newborns main panel BIALLELIC, autosomal or pseudoautosomal Glanzmann thrombasthenia 1 False 3 0;0;0 0.508 False ENSG00000005961 ENSG00000005961 HGNC:6138 ITGB2 gene ITGB2 Expert Review Green Newborns main panel BIALLELIC, autosomal or pseudoautosomal Leukocyte adhesion deficiency, type I False 3 0;0;0 0.508 False ENSG00000160255 ENSG00000160255 HGNC:6155 ITGB3 gene ITGB3 Expert Review Green Newborns main panel BIALLELIC, autosomal or pseudoautosomal Glanzmann thrombasthenia 2 False 3 0;0;0 0.508 False ENSG00000259207 ENSG00000259207 HGNC:6156 ITK gene ITK Expert Review Green Newborns main panel BIALLELIC, autosomal or pseudoautosomal Lymphoproliferative syndrome 1 False 3 0;0;0 0.508 False ENSG00000113263 ENSG00000113263 HGNC:6171 IVD gene IVD Expert Review Green Newborns main panel BIALLELIC, autosomal or pseudoautosomal Isovaleric acidaemia False 3 0;0;0 0.508 False ENSG00000128928 ENSG00000128928 HGNC:6186 IYD gene IYD Expert Review Green Newborns main panel BIALLELIC, autosomal or pseudoautosomal Thyroid dyshormonogenesis 4 False 3 0;0;0 0.508 False ENSG00000009765 ENSG00000009765 HGNC:21071 JAGN1 gene JAGN1 Expert Review Green Newborns main panel BIALLELIC, autosomal or pseudoautosomal Severe congenital neutropenia 6 False 3 0;0;0 0.508 False ENSG00000171135 ENSG00000171135 HGNC:26926 JAK3 gene JAK3 Expert Review Green Newborns main panel BIALLELIC, autosomal or pseudoautosomal JAK3 related T cell-negative, B cell-positive, natural killer cell-negative severe combined immunodeficiency False 3 0;0;0 0.508 False ENSG00000105639 ENSG00000105639 HGNC:6193 KCNJ1 gene KCNJ1 Expert Review Green Newborns main panel BIALLELIC, autosomal or pseudoautosomal Bartter syndrome, type 2 False 3 0;0;0 0.508 False ENSG00000151704 ENSG00000151704 HGNC:6255 KCNJ11 gene KCNJ11 Expert Review Green Newborns main panel BIALLELIC, autosomal or pseudoautosomal Familial hyperinsulinemic hypoglycemia-2, autosomal recessive False 3 0;0;0 0.508 False ENSG00000187486 ENSG00000187486 HGNC:6257 KDELR2 gene KDELR2 Expert Review Green Newborns main panel BIALLELIC, autosomal or pseudoautosomal Osteogenesis imperfecta, type XXI False 3 0;0;0 0.508 False ENSG00000136240 ENSG00000136240 HGNC:6305 KISS1R gene KISS1R Expert Review Green Newborns main panel BIALLELIC, autosomal or pseudoautosomal Hypogonadotropic hypogonadism 8 with or without anosmia False 3 0;0;0 0.508 False ENSG00000116014 ENSG00000116014 HGNC:4510 KLHL3 gene KLHL3 Expert Review Green Newborns main panel BIALLELIC, autosomal or pseudoautosomal Pseudohypoaldosteronism, type IID, autosomal recessive False 3 0;0;0 0.508 False ENSG00000146021 ENSG00000146021 HGNC:6354 LAT gene LAT Expert Review Green Newborns main panel BIALLELIC, autosomal or pseudoautosomal Immunodeficiency 52 False 3 0;0;0 0.508 False ENSG00000213658 ENSG00000213658 HGNC:18874 LCK gene LCK Expert Review Green Newborns main panel BIALLELIC, autosomal or pseudoautosomal immunodeficiency 22 False 3 0;0;0 0.508 False ENSG00000182866 ENSG00000182866 HGNC:6524 LCT gene LCT Expert Review Green Newborns main panel BIALLELIC, autosomal or pseudoautosomal Lactase deficiency, congenital False 3 0;0;0 0.508 False ENSG00000115850 ENSG00000115850 HGNC:6530 LDLR gene LDLR Expert Review Green Newborns main panel BIALLELIC, autosomal or pseudoautosomal Homozygous Familial hypercholesterolaemia-1 False 3 0;0;0 0.508 False ENSG00000130164 ENSG00000130164 HGNC:6547 LDLRAP1 gene LDLRAP1 Expert Review Green Newborns main panel BIALLELIC, autosomal or pseudoautosomal Homozygous Familial hypercholesterolaemia-4 False 3 0;0;0 0.508 False ENSG00000157978 ENSG00000157978 HGNC:18640 LEP gene LEP Expert Review Green Newborns main panel BIALLELIC, autosomal or pseudoautosomal Leptin deficiency False 3 0;0;0 0.508 False ENSG00000174697 ENSG00000174697 HGNC:6553 LEPR gene LEPR Expert Review Green Newborns main panel BIALLELIC, autosomal or pseudoautosomal Leptin receptor deficiency False 3 0;0;0 0.508 False ENSG00000116678 ENSG00000116678 HGNC:6554 LHX3 gene LHX3 Expert Review Green Newborns main panel BIALLELIC, autosomal or pseudoautosomal Pituitary hormone deficiency, combined, 3 False 3 0;0;0 0.508 False ENSG00000107187 ENSG00000107187 HGNC:6595 LIG1 gene LIG1 Expert Review Green Newborns main panel BIALLELIC, autosomal or pseudoautosomal LIG1 associated immunodeficiency False 3 0;0;0 0.508 False ENSG00000105486 ENSG00000105486 HGNC:6598 LIG4 gene LIG4 Expert Review Green Newborns main panel BIALLELIC, autosomal or pseudoautosomal LIG4 Syndrome False 3 0;0;0 0.508 False ENSG00000174405 ENSG00000174405 HGNC:6601 LIPA gene LIPA Expert Review Green Newborns main panel BIALLELIC, autosomal or pseudoautosomal Lysosomal acid lipase deficiency False 3 0;0;0 0.508 False ENSG00000107798 ENSG00000107798 HGNC:6617 LMBRD1 gene LMBRD1 Expert Review Green Newborns main panel BIALLELIC, autosomal or pseudoautosomal Methylmalonic aciduria and homocystinuria, cblF type False 3 0;0;0 0.508 False ENSG00000168216 ENSG00000168216 HGNC:23038 LMF1 gene LMF1 Expert Review Green Newborns main panel BIALLELIC, autosomal or pseudoautosomal Lipase deficiency, combined False 3 0;0;0 0.508 False ENSG00000103227 ENSG00000103227 HGNC:14154 LPIN1 gene LPIN1 Expert Review Green Newborns main panel BIALLELIC, autosomal or pseudoautosomal Myoglobinuria, acute recurrent False 3 0;0;0 0.508 False ENSG00000134324 ENSG00000134324 HGNC:13345 LPL gene LPL Expert Review Green Newborns main panel BIALLELIC, autosomal or pseudoautosomal Lipoprotein lipase deficiency False 3 0;0;0 0.508 False ENSG00000175445 ENSG00000175445 HGNC:6677 LRP5 gene LRP5 Expert Review Green Newborns main panel BIALLELIC, autosomal or pseudoautosomal Osteoporosis-pseudoglioma syndrome False 3 0;0;0 0.508 False ENSG00000162337 ENSG00000162337 HGNC:6697 LRRC56 gene LRRC56 Expert Review Green Newborns main panel BIALLELIC, autosomal or pseudoautosomal Ciliary dyskinesia, primary, 39 False 3 0;0;0 0.508 False ENSG00000161328 ENSG00000161328 HGNC:25430 LRRC6 gene LRRC6 Expert Review Green Newborns main panel BIALLELIC, autosomal or pseudoautosomal Ciliary dyskinesia, primary, 19 False 3 0;0;0 0.508 False ENSG00000129295 ENSG00000129295 HGNC:16725 LYST gene LYST Expert Review Green Newborns main panel BIALLELIC, autosomal or pseudoautosomal Chediak-Higashi Syndrome False 3 0;0;0 0.508 False ENSG00000143669 ENSG00000143669 HGNC:1968 MAGT1 gene MAGT1 Expert Review Green Newborns main panel X-LINKED: hemizygous mutation in males, biallelic mutations in females X-linked Immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia False 3 0;0;0 0.508 False ENSG00000102158 ENSG00000102158 HGNC:28880 MAN2B1 gene MAN2B1 Expert Review Green Newborns main panel BIALLELIC, autosomal or pseudoautosomal Alpha-mannosidosis False 3 0;0;0 0.508 False ENSG00000104774 ENSG00000104774 HGNC:6826 MC2R gene MC2R Expert Review Green Newborns main panel BIALLELIC, autosomal or pseudoautosomal MC2R familial glucocorticoid deficiency False 3 0;0;0 0.508 False ENSG00000185231 ENSG00000185231 HGNC:6930 MCEE gene MCEE Expert Review Green Newborns main panel BIALLELIC, autosomal or pseudoautosomal Methylmalonyl-CoA epimerase deficiency False 3 0;0;0 0.508 False ENSG00000124370 ENSG00000124370 HGNC:16732 MCIDAS gene MCIDAS Expert Review Green Newborns main panel BIALLELIC, autosomal or pseudoautosomal ciliary dyskinesia, primary, 42 False 3 0;0;0 0.508 False ENSG00000234602 ENSG00000234602 HGNC:40050 MCM4 gene MCM4 Expert Review Green Newborns main panel BIALLELIC, autosomal or pseudoautosomal Immunodeficiency 54 22354170;22354167;22499342 False 3 0;0;0 0.508 False Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments ENSG00000104738 ENSG00000104738 HGNC:6947 MESD gene MESD Expert Review Green Newborns main panel BIALLELIC, autosomal or pseudoautosomal Osteogenesis imperfecta, type XX False 3 0;0;0 0.508 False ENSG00000117899 ENSG00000117899 HGNC:13520 MMAA gene MMAA Expert Review Green Newborns main panel BIALLELIC, autosomal or pseudoautosomal Methylmalonic aciduria, vitamin B12-responsive, cblA type False 3 0;0;0 0.508 False ENSG00000151611 ENSG00000151611 HGNC:18871 MMAB gene MMAB Expert Review Green Newborns main panel BIALLELIC, autosomal or pseudoautosomal Methylmalonic aciduria, vitamin B12-responsive, cblB type False 3 0;0;0 0.508 False ENSG00000139428 ENSG00000139428 HGNC:19331 MMACHC gene MMACHC Expert Review Green Newborns main panel BIALLELIC, autosomal or pseudoautosomal Methylmalonic aciduria and homocystinuria, cblC type False 3 0;0;0 0.508 False ENSG00000132763 ENSG00000132763 HGNC:24525 MMADHC gene MMADHC Expert Review Green Newborns main panel BIALLELIC, autosomal or pseudoautosomal Methylmalonic aciduria and homocystinuria, cblD type False 3 0;0;0 0.508 False ENSG00000168288 ENSG00000168288 HGNC:25221 MPI gene MPI Expert Review Green Newborns main panel BIALLELIC, autosomal or pseudoautosomal Mannose Phosphate Isomerase (MPI) - Congenital Disorders of Glycosylation False 3 0;0;0 0.508 False ENSG00000178802 ENSG00000178802 HGNC:7216 MPL gene MPL Expert Review Green Newborns main panel BIALLELIC, autosomal or pseudoautosomal Congenital amegakaryocytic thrombocytopenia False 3 0;0;0 0.508 False ENSG00000117400 ENSG00000117400 HGNC:7217 MRAP gene MRAP Expert Review Green Newborns main panel BIALLELIC, autosomal or pseudoautosomal MRAP familial glucocorticoid deficiency type 2 False 3 0;0;0 0.508 False ENSG00000170262 ENSG00000170262 HGNC:1304 MSN gene MSN Expert Review Green Newborns main panel X-LINKED: hemizygous mutation in males, biallelic mutations in females Immunodeficiency 50 False 3 0;0;0 0.508 False ENSG00000147065 ENSG00000147065 HGNC:7373 MTHFD1 gene MTHFD1 Expert Review Green Newborns main panel BIALLELIC, autosomal or pseudoautosomal Combined immunodeficiency and megaloblastic anaemia with or without hyperhomocysteinaemia False 3 0;0;0 0.508 False ENSG00000100714 ENSG00000100714 HGNC:7432 MTHFR gene MTHFR Expert Review Green Newborns main panel BIALLELIC, autosomal or pseudoautosomal Homocystinuria due to MTHFR deficiency False 3 0;0;0 0.508 False ENSG00000177000 ENSG00000177000 HGNC:7436 MTR gene MTR Expert Review Green Newborns main panel BIALLELIC, autosomal or pseudoautosomal Homocystinuria-megaloblastic anaemia, cblG complementation type False 3 0;0;0 0.508 False ENSG00000116984 ENSG00000116984 HGNC:7468 MTRR gene MTRR Expert Review Green Newborns main panel BIALLELIC, autosomal or pseudoautosomal Homocystinuria-megaloblastic anaemia, cbl E type False 3 0;0;0 0.508 False ENSG00000124275 ENSG00000124275 HGNC:7473 MTTP gene MTTP Expert Review Green Newborns main panel BIALLELIC, autosomal or pseudoautosomal Abetalipoproteinaemia False 3 0;0;0 0.508 False ENSG00000138823 ENSG00000138823 HGNC:7467 MUSK gene MUSK Expert Review Green Newborns main panel BIALLELIC, autosomal or pseudoautosomal Congenital myasthenic syndrome-9 False 3 0;0;0 0.508 False ENSG00000030304 ENSG00000030304 HGNC:7525 MUT gene MUT Expert Review Green Newborns main panel BIALLELIC, autosomal or pseudoautosomal Methylmalonic acidemia, mut(0) type False 3 0;0;0 0.508 False ENSG00000146085 ENSG00000146085 HGNC:7526 MYD88 gene MYD88 Expert Review Green Newborns main panel BIALLELIC, autosomal or pseudoautosomal Immunodeficiency 68 False 3 0;0;0 0.508 False ENSG00000172936 ENSG00000172936 HGNC:7562 MYSM1 gene MYSM1 Expert Review Green Newborns main panel BIALLELIC, autosomal or pseudoautosomal Bone marrow failure syndrome 4 False 3 0;0;0 0.508 False ENSG00000162601 ENSG00000162601 HGNC:29401 NAGS gene NAGS Expert Review Green Newborns main panel BIALLELIC, autosomal or pseudoautosomal N-acetylglutamate synthase deficiency False 3 0;0;0 0.508 False ENSG00000161653 ENSG00000161653 HGNC:17996 NBN gene NBN Expert Review Green Newborns main panel BIALLELIC, autosomal or pseudoautosomal Nijmegen breakage syndrome False 3 0;0;0 0.508 False ENSG00000104320 ENSG00000104320 HGNC:7652 NCF2 gene NCF2 Expert Review Green Newborns main panel BIALLELIC, autosomal or pseudoautosomal Chronic granulomatous disease 3 False 3 0;0;0 0.508 False ENSG00000116701 ENSG00000116701 HGNC:7661 NCF4 gene NCF4 Expert Review Green Newborns main panel BIALLELIC, autosomal or pseudoautosomal Chronic granulomatous disease 2 False 3 0;0;0 0.508 False ENSG00000100365 ENSG00000100365 HGNC:7662 NEUROD1 gene NEUROD1 Expert Review Green Newborns main panel BIALLELIC, autosomal or pseudoautosomal NEUROD1 related autosomal recessive neonatal diabetes False 3 0;0;0 0.508 False ENSG00000162992 ENSG00000162992 HGNC:7762 NEUROG3 gene NEUROG3 Expert Review Green Newborns main panel BIALLELIC, autosomal or pseudoautosomal Diarrhoea 4, malabsorptive, congenital False 3 0;0;0 0.508 False ENSG00000122859 ENSG00000122859 HGNC:13806 NFKBIA gene NFKBIA Expert Review Green Newborns main panel MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Ectodermal dysplasia and immunodeficiency 2 False 3 0;0;0 0.508 False Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments ENSG00000100906 ENSG00000100906 HGNC:7797 NHEJ1 gene NHEJ1 Expert Review Green Newborns main panel BIALLELIC, autosomal or pseudoautosomal Severe combined immunodeficiency with microcephaly, growth retardation, and sensitivity to ionizing radiation False 3 0;0;0 0.508 False ENSG00000187736 ENSG00000187736 HGNC:25737 NLRP3 gene NLRP3 Expert Review Green Newborns main panel MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Cryopyrin associated periodic fever syndrome False 3 0;0;0 0.508 False Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments ENSG00000162711 ENSG00000162711 HGNC:16400 NNT gene NNT Expert Review Green Newborns main panel BIALLELIC, autosomal or pseudoautosomal Glucocorticoid deficiency 4, with or without mineralocorticoid deficiency False 3 0;0;0 0.508 False ENSG00000112992 ENSG00000112992 HGNC:7863 NR0B1 gene NR0B1 Expert Review Green Newborns main panel X-LINKED: hemizygous mutation in males, biallelic mutations in females Adrenal hypoplasia, congenital False 3 0;0;0 0.508 False ENSG00000169297 ENSG00000169297 HGNC:7960 NR3C2 gene NR3C2 Expert Review Green Newborns main panel MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Pseudohypoaldosteronism type I, autosomal dominant False 3 0;0;0 0.508 False ENSG00000151623 ENSG00000151623 HGNC:7979 NR5A1 gene NR5A1 Expert Review Green Newborns main panel MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown NR5A1 associated adrenocortical insufficiency False 3 0;0;0 0.508 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 OAS1 gene OAS1 Expert Review Green Newborns main panel MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown OAS1 related polymorphic autoinflammatory immunodeficiency False 3 0;0;0 0.508 False Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments ENSG00000089127 ENSG00000089127 HGNC:8086 OAT gene OAT Expert Review Green Newborns main panel BIALLELIC, autosomal or pseudoautosomal Gyrate atrophy of choroid and retina with or without ornithinemia False 3 0;0;0 0.508 False ENSG00000065154 ENSG00000065154 HGNC:8091 OTC gene OTC Expert Review Green Newborns main panel X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Ornithine transcarbamylase deficiency False 3 0;0;0 0.508 False ENSG00000036473 ENSG00000036473 HGNC:8512 OTOF gene OTOF Expert Review Green Newborns main panel BIALLELIC, autosomal or pseudoautosomal Auditory neuropathy, autosomal recessive, 1 False 3 0;0;0 0.508 False ENSG00000115155 ENSG00000115155 HGNC:8515 OXCT1 gene OXCT1 Expert Review Green Newborns main panel BIALLELIC, autosomal or pseudoautosomal Succinyl-CoA:3-ketoacid CoA transferase (SCOT) deficiency False 3 0;0;0 0.508 False ENSG00000083720 ENSG00000083720 HGNC:8527 PAH gene PAH Expert Review Green Newborns main panel BIALLELIC, autosomal or pseudoautosomal PAH-related disorder False 3 0;0;0 0.508 False ENSG00000171759 ENSG00000171759 HGNC:8582 PAX1 gene PAX1 Expert Review Green Newborns main panel BIALLELIC, autosomal or pseudoautosomal Otofaciocervical syndrome 2 False 3 0;0;0 0.508 False ENSG00000125813 ENSG00000125813 HGNC:8615 PAX8 gene PAX8 Expert Review Green Newborns main panel MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Hypothyroidism, congenital, due to thyroid dysgenesis or hypoplasia False 3 0;0;0 0.508 False ENSG00000125618 ENSG00000125618 HGNC:8622 PCCA gene PCCA Expert Review Green Newborns main panel BIALLELIC, autosomal or pseudoautosomal Propionic acidemia 1 False 3 0;0;0 0.508 False ENSG00000175198 ENSG00000175198 HGNC:8653 PCCB gene PCCB Expert Review Green Newborns main panel BIALLELIC, autosomal or pseudoautosomal Propionic acidemia 2 False 3 0;0;0 0.508 False ENSG00000114054 ENSG00000114054 HGNC:8654 PCK1 gene PCK1 Expert Review Green Newborns main panel BIALLELIC, autosomal or pseudoautosomal Phosphoenolpyruvate carboxykinase deficiency, cytosolic False 3 0;0;0 0.508 False ENSG00000124253 ENSG00000124253 HGNC:8724 PCSK1 gene PCSK1 Expert Review Green Newborns main panel BIALLELIC, autosomal or pseudoautosomal Endocrinopathy due to proprotein convertase 1/3 deficiency False 3 0;0;0 0.508 False ENSG00000175426 ENSG00000175426 HGNC:8743 PDHA1 gene PDHA1 Expert Review Green Newborns main panel X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Pyruvate dehydrogenase E1-alpha deficiency False 3 0;0;0 0.508 False ENSG00000131828 ENSG00000131828 HGNC:8806 PDSS1 gene PDSS1 Expert Review Green Newborns main panel BIALLELIC, autosomal or pseudoautosomal Coenzyme Q10 deficiency, primary, 2 False 3 0;0;0 0.508 False ENSG00000148459 ENSG00000148459 HGNC:17759 PDSS2 gene PDSS2 Expert Review Green Newborns main panel BIALLELIC, autosomal or pseudoautosomal Coenzyme Q10 deficiency, primary, 3 False 3 0;0;0 0.508 False ENSG00000164494 ENSG00000164494 HGNC:23041 PGM1 gene PGM1 Expert Review Green Newborns main panel BIALLELIC, autosomal or pseudoautosomal Congenital disorder of glycosylation, type It False 3 0;0;0 0.508 False ENSG00000079739 ENSG00000079739 HGNC:8905 PHEX gene PHEX Expert Review Green Newborns main panel X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Hypophosphatemic rickets, X-linked dominant False 3 0;0;0 0.508 False ENSG00000102174 ENSG00000102174 HGNC:8918 PHKA2 gene PHKA2 Expert Review Green Newborns main panel X-LINKED: hemizygous mutation in males, biallelic mutations in females Glycogen storage disease, type IXa1 False 3 0;0;0 0.508 False ENSG00000044446 ENSG00000044446 HGNC:8926 PHKG2 gene PHKG2 Expert Review Green Newborns main panel BIALLELIC, autosomal or pseudoautosomal Glycogen storage disease IXc False 3 0;0;0 0.508 False ENSG00000156873 ENSG00000156873 HGNC:8931 PIH1D3 gene PIH1D3 Expert Review Green Newborns main panel X-LINKED: hemizygous mutation in males, biallelic mutations in females Ciliary dyskinesia, primary, 36, X-linked False 3 100;0;0 0.508 False ENSG00000080572 ENSG00000080572 HGNC:28570 PIK3R1 gene PIK3R1 Expert Review Green Newborns main panel BIALLELIC, autosomal or pseudoautosomal Agammaglobulinaemia 7 False 3 0;0;0 0.508 False ENSG00000145675 ENSG00000145675 HGNC:8979 PKLR gene PKLR Expert Review Green Newborns main panel BIALLELIC, autosomal or pseudoautosomal Pyruvate kinase deficiency False 3 0;0;0 0.508 False ENSG00000143627 ENSG00000143627 HGNC:9020 PLOD2 gene PLOD2 Expert Review Green Newborns main panel BIALLELIC, autosomal or pseudoautosomal Bruck Syndrome 2 False 3 0;0;0 0.508 False ENSG00000152952 ENSG00000152952 HGNC:9082 PLPBP gene PLPBP Expert Review Green Newborns main panel BIALLELIC, autosomal or pseudoautosomal Vitamin B6-dependent epilepsy False 3 0;0;0 0.508 False ENSG00000147471 ENSG00000147471 HGNC:9457 PLS3 gene PLS3 Expert Review Green Newborns main panel X-LINKED: hemizygous mutation in males, biallelic mutations in females Bone mineral density QTL18, osteoporosis False 3 0;0;0 0.508 False ENSG00000102024 ENSG00000102024 HGNC:9091 PNP gene PNP Expert Review Green Newborns main panel BIALLELIC, autosomal or pseudoautosomal Immunodeficiency due to purine nucleoside phosphorylase deficiency False 3 0;0;0 0.508 False ENSG00000198805 ENSG00000198805 HGNC:7892 PNPO gene PNPO Expert Review Green Newborns main panel BIALLELIC, autosomal or pseudoautosomal Pyridoxamine 5 -phosphate oxidase deficiency False 3 0;0;0 0.508 False ENSG00000108439 ENSG00000108439 HGNC:30260 POLA1 gene POLA1 Expert Review Green Newborns main panel X-LINKED: hemizygous mutation in males, biallelic mutations in females Pigmentary disorder, reticulate, with systemic manifestations, X-linked False 3 0;0;0 0.508 False ENSG00000101868 ENSG00000101868 HGNC:9173 POLE gene POLE Expert Review Green Newborns main panel BIALLELIC, autosomal or pseudoautosomal IMAGE-I syndrome False 3 0;0;0 0.508 False ENSG00000177084 ENSG00000177084 HGNC:9177 POLH gene POLH Expert Review Green Newborns main panel BIALLELIC, autosomal or pseudoautosomal Xeroderma pigmentosum, variant type False 3 0;0;0 0.508 False ENSG00000170734 ENSG00000170734 HGNC:9181 POMC gene POMC Expert Review Green Newborns main panel BIALLELIC, autosomal or pseudoautosomal Obesity, adrenal insufficiency, and red hair due to POMC deficiency False 3 0;0;0 0.508 False ENSG00000115138 ENSG00000115138 HGNC:9201 POR gene POR Expert Review Green Newborns main panel BIALLELIC, autosomal or pseudoautosomal cytochrome P450 oxidoreductase deficiency False 3 0;0;0 0.508 False ENSG00000127948 ENSG00000127948 HGNC:9208 POU1F1 gene POU1F1 Expert Review Green Newborns main panel BIALLELIC, autosomal or pseudoautosomal Pituitary hormone deficiency, combined or isolated, 1, autosomal recessive False 3 0;0;0 0.508 False ENSG00000064835 ENSG00000064835 HGNC:9210 PPOX gene PPOX Expert Review Green Newborns main panel BIALLELIC, autosomal or pseudoautosomal Homozygous Variegate Porphyria False 3 0;0;0 0.508 False ENSG00000143224 ENSG00000143224 HGNC:9280 PREPL gene PREPL Expert Review Green Newborns main panel BIALLELIC, autosomal or pseudoautosomal Congenital myasthenic syndrome-22 False 3 0;0;0 0.508 False ENSG00000138078 ENSG00000138078 HGNC:30228 PRF1 gene PRF1 Expert Review Green Newborns main panel BIALLELIC, autosomal or pseudoautosomal Haemophagocytic lymphohistiocytosis, familial, 2 False 3 0;0;0 0.508 False ENSG00000180644 ENSG00000180644 HGNC:9360 PRKDC gene PRKDC Expert Review Green Newborns main panel BIALLELIC, autosomal or pseudoautosomal Immunodeficiency 26, with or without neurologic abnormalities False 3 0;0;0 0.508 False ENSG00000253729 ENSG00000253729 HGNC:9413 PROK2 gene PROK2 Expert Review Green Newborns main panel BIALLELIC, autosomal or pseudoautosomal Hypogonadotropic hypogonadism 4 with or without anosmia False 3 0;0;0 0.508 False ENSG00000163421 ENSG00000163421 HGNC:18455 PROP1 gene PROP1 Expert Review Green Newborns main panel BIALLELIC, autosomal or pseudoautosomal Combined Pituitary hormone deficiency 2 False 3 0;0;0 0.508 False ENSG00000175325 ENSG00000175325 HGNC:9455 PSTPIP1 gene PSTPIP1 Expert Review Green Newborns main panel MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown PSTPIP1 associated inflammatory disease False 3 0;0;0 0.508 False Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments ENSG00000140368 ENSG00000140368 HGNC:9580 PTF1A gene PTF1A Expert Review Green Newborns main panel BIALLELIC, autosomal or pseudoautosomal Pancreatic agenesis 2 False 3 0;0;0 0.508 False ENSG00000168267 ENSG00000168267 HGNC:23734 PTH gene PTH Expert Review Green Newborns main panel BIALLELIC, autosomal or pseudoautosomal familial isolated hypoparathyroidism 1, autosomal recessive False 3 0;0;0 0.508 False ENSG00000152266 ENSG00000152266 HGNC:9606 PTPRC gene PTPRC Expert Review Green Newborns main panel BIALLELIC, autosomal or pseudoautosomal Immunodeficiency 105, severe combined False 3 0;0;0 0.508 False ENSG00000081237 ENSG00000081237 HGNC:9666 PTS gene PTS Expert Review Green Newborns main panel BIALLELIC, autosomal or pseudoautosomal Hyperphenylalaninemia due to 6-pyruvoyl-tetrahydropterin synthase deficiency False 3 0;0;0 0.508 False ENSG00000150787 ENSG00000150787 HGNC:9689 PYGL gene PYGL Expert Review Green Newborns main panel BIALLELIC, autosomal or pseudoautosomal Glycogen storage disease VI False 3 0;0;0 0.508 False ENSG00000100504 ENSG00000100504 HGNC:9725 QDPR gene QDPR Expert Review Green Newborns main panel BIALLELIC, autosomal or pseudoautosomal Hyperphenylalaninemia due to dihydropteridine reductase deficiency False 3 0;0;0 0.508 False ENSG00000151552 ENSG00000151552 HGNC:9752 RAB27A gene RAB27A Expert Review Green Newborns main panel BIALLELIC, autosomal or pseudoautosomal Griscelli syndrome, type 2 False 3 0;0;0 0.508 False ENSG00000069974 ENSG00000069974 HGNC:9766 RAG1 gene RAG1 Expert Review Green Newborns main panel BIALLELIC, autosomal or pseudoautosomal RAG1 related severe combined immunodeficiency, B cell-negative False 3 0;0;0 0.508 False ENSG00000166349 ENSG00000166349 HGNC:9831 RAG2 gene RAG2 Expert Review Green Newborns main panel BIALLELIC, autosomal or pseudoautosomal RAG2 related severe combined immunodeficiency, B cell-negative False 3 0;0;0 0.508 False ENSG00000175097 ENSG00000175097 HGNC:9832 RAPSN gene RAPSN Expert Review Green Newborns main panel BIALLELIC, autosomal or pseudoautosomal Congenital myasthenic syndrome-11 False 3 0;0;0 0.508 False ENSG00000165917 ENSG00000165917 HGNC:9863 RASGRP1 gene RASGRP1 Expert Review Green Newborns main panel BIALLELIC, autosomal or pseudoautosomal Immunodeficiency 64 False 3 0;0;0 0.508 False ENSG00000172575 ENSG00000172575 HGNC:9878 RB1 gene RB1 Expert Review Green Newborns main panel MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Retinoblastoma False 3 0;0;0 0.508 False ENSG00000139687 ENSG00000139687 HGNC:9884 REST gene REST Expert Review Green Newborns main panel MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Wilms tumour predisposition False 3 0;0;0 0.508 False ENSG00000084093 ENSG00000084093 HGNC:9966 RET gene RET Expert Review Green Newborns main panel MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Multiple endocrine neoplasia II False 3 0;0;0 0.508 False Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments ENSG00000165731 ENSG00000165731 HGNC:9967 RFX5 gene RFX5 Expert Review Green Newborns main panel BIALLELIC, autosomal or pseudoautosomal Bare lymphocyte syndrome, type II, complementation group C False 3 0;0;0 0.508 False ENSG00000143390 ENSG00000143390 HGNC:9986 RFXANK gene RFXANK Expert Review Green Newborns main panel BIALLELIC, autosomal or pseudoautosomal Bare lymphocyte syndrome, type II, complementation group B False 3 0;0;0 0.508 False ENSG00000064490 ENSG00000064490 HGNC:9987 RFXAP gene RFXAP Expert Review Green Newborns main panel BIALLELIC, autosomal or pseudoautosomal Bare lymphocyte syndrome, type II, complementation group D False 3 0;0;0 0.508 False ENSG00000133111 ENSG00000133111 HGNC:9988 RNPC3 gene RNPC3 Expert Review Green Newborns main panel BIALLELIC, autosomal or pseudoautosomal RNPC3 associated growth hormone deficiency False 3 0;0;0 0.508 False ENSG00000185946 ENSG00000185946 HGNC:18666 RPE65 gene RPE65 Expert Review Green Newborns main panel BIALLELIC, autosomal or pseudoautosomal RPE65 associated Leber congenital amaurosis, early-onset severe retinal dystrophy False 3 0;0;0 0.508 False ENSG00000116745 ENSG00000116745 HGNC:10294 RPL11 gene RPL11 Expert Review Green Newborns main panel MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Diamond-Blackfan anaemia 7 False 3 0;0;0 0.508 False ENSG00000142676 ENSG00000142676 HGNC:10301 RPL15 gene RPL15 Expert Review Green Newborns main panel MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Diamond-Blackfan anaemia 12 False 3 0;0;0 0.508 False ENSG00000174748 ENSG00000174748 HGNC:10306 RPL26 gene RPL26 Expert Review Green Newborns main panel MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Diamond-Blackfan anaemia 11 False 3 0;0;0 0.508 False ENSG00000161970 ENSG00000161970 HGNC:10327 RPL35A gene RPL35A Expert Review Green Newborns main panel MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Diamond-Blackfan anaemia 5 False 3 0;0;0 0.508 False ENSG00000182899 ENSG00000182899 HGNC:10345 RPL5 gene RPL5 Expert Review Green Newborns main panel MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Diamond blackfan anaemia 6 False 3 0;0;0 0.508 False ENSG00000122406 ENSG00000122406 HGNC:10360 RPS10 gene RPS10 Expert Review Green Newborns main panel MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Diamond-Blackfan anaemia 9 False 3 0;0;0 0.508 False ENSG00000124614 ENSG00000124614 HGNC:10383 RPS17 gene RPS17 Expert Review Green Newborns main panel MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Diamond-Blackfan anaemia 4 False 3 0;0;0 0.508 False ENSG00000182774 ENSG00000182774 HGNC:10397 RPS19 gene RPS19 Expert Review Green Newborns main panel MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Diamond blackfan anaemia 1 False 3 0;0;0 0.508 False ENSG00000105372 ENSG00000105372 HGNC:10402 RPS24 gene RPS24 Expert Review Green Newborns main panel MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Diamond-blackfan anaemia 3 False 3 0;0;0 0.508 False ENSG00000138326 ENSG00000138326 HGNC:10411 RPS26 gene RPS26 Expert Review Green Newborns main panel MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Diamond-Blackfan anaemia 10 False 3 0;0;0 0.508 False ENSG00000197728 ENSG00000197728 HGNC:10414 RPS29 gene RPS29 Expert Review Green Newborns main panel MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Diamond-Blackfan anaemia 13 False 3 0;0;0 0.508 False ENSG00000213741 ENSG00000213741 HGNC:10419 RPS7 gene RPS7 Expert Review Green Newborns main panel MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Diamond-Blackfan anaemia 8 False 3 0;0;0 0.508 False ENSG00000171863 ENSG00000171863 HGNC:10440 RPSA gene RPSA Expert Review Green Newborns main panel MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Asplenia, isolated congenital False 3 0;0;0 0.508 False ENSG00000168028 ENSG00000168028 HGNC:6502 RSPH1 gene RSPH1 Expert Review Green Newborns main panel BIALLELIC, autosomal or pseudoautosomal primary ciliary dyskinesia 24 False 3 0;0;0 0.508 False ENSG00000160188 ENSG00000160188 HGNC:12371 RSPH3 gene RSPH3 Expert Review Green Newborns main panel BIALLELIC, autosomal or pseudoautosomal Ciliary dyskinesia, primary, 32 False 3 0;0;0 0.508 False ENSG00000130363 ENSG00000130363 HGNC:21054 RSPH4A gene RSPH4A Expert Review Green Newborns main panel BIALLELIC, autosomal or pseudoautosomal primary ciliary dyskinesia 11 False 3 0;0;0 0.508 False ENSG00000111834 ENSG00000111834 HGNC:21558 RSPH9 gene RSPH9 Expert Review Green Newborns main panel BIALLELIC, autosomal or pseudoautosomal Ciliary dyskinesia, primary, 12 False 3 0;0;0 0.508 False ENSG00000172426 ENSG00000172426 HGNC:21057 SAMD9 gene SAMD9 Expert Review Green Newborns main panel MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown MIRAGE syndrome False 3 0;0;0 0.508 False Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments ENSG00000205413 ENSG00000205413 HGNC:1348 SAR1B gene SAR1B Expert Review Green Newborns main panel BIALLELIC, autosomal or pseudoautosomal Chylomicron retention disease False 3 0;0;0 0.508 False ENSG00000152700 ENSG00000152700 HGNC:10535 SBDS gene SBDS Expert Review Green Newborns main panel BIALLELIC, autosomal or pseudoautosomal Shwachman-Diamond syndrome 1 False 3 0;0;0 0.508 False ENSG00000126524 ENSG00000126524 HGNC:19440 SCN4A gene SCN4A Expert Review Green Newborns main panel BIALLELIC, autosomal or pseudoautosomal Congenital myasthenic syndrome-16 False 3 0;0;0 0.508 False ENSG00000007314 ENSG00000007314 HGNC:10591 SCNN1A gene SCNN1A Expert Review Green Newborns main panel BIALLELIC, autosomal or pseudoautosomal SCNN1A related pseudohypoaldosteronism Type 1A False 3 0;0;0 0.508 False ENSG00000111319 ENSG00000111319 HGNC:10599 SCNN1B gene SCNN1B Expert Review Green Newborns main panel BIALLELIC, autosomal or pseudoautosomal SCNN1B related pseudohypoaldosteronism Type 1A False 3 0;0;0 0.508 False ENSG00000168447 ENSG00000168447 HGNC:10600 SCNN1G gene SCNN1G Expert Review Green Newborns main panel BIALLELIC, autosomal or pseudoautosomal SCNN1G related pseudohypoaldosteronism Type 1A False 3 0;0;0 0.508 False ENSG00000166828 ENSG00000166828 HGNC:10602 SERPINF1 gene SERPINF1 Expert Review Green Newborns main panel BIALLELIC, autosomal or pseudoautosomal Osteogenesis imperfecta, type VI False 3 0;0;0 0.508 False ENSG00000132386 ENSG00000132386 HGNC:8824 SERPINH1 gene SERPINH1 Expert Review Green Newborns main panel BIALLELIC, autosomal or pseudoautosomal Osteogenesis imperfecta, type X False 3 0;0;0 0.508 False ENSG00000149257 ENSG00000149257 HGNC:1546 SGPL1 gene SGPL1 Expert Review Green Newborns main panel BIALLELIC, autosomal or pseudoautosomal Nephrotic syndrome, type 14 False 3 0;0;0 0.508 False ENSG00000166224 ENSG00000166224 HGNC:10817 SH2D1A gene SH2D1A Expert Review Green Newborns main panel X-LINKED: hemizygous mutation in males, biallelic mutations in females X-linked lymphoproliferative syndrome 1 False 3 0;0;0 0.508 False ENSG00000183918 ENSG00000183918 HGNC:10820 SI gene SI Expert Review Green Newborns main panel BIALLELIC, autosomal or pseudoautosomal Congenital sucrase-isomaltase deficiency False 3 0;0;0 0.508 False ENSG00000090402 ENSG00000090402 HGNC:10856 SKIV2L gene SKIV2L Expert Review Green Newborns main panel BIALLELIC, autosomal or pseudoautosomal Trichohepatoenteric syndrome 2 False 3 0;0;0 0.508 False ENSG00000204351 ENSG00000204351 HGNC:10898 SLC12A1 gene SLC12A1 Expert Review Green Newborns main panel BIALLELIC, autosomal or pseudoautosomal Bartter syndrome, type 1 False 3 0;0;0 0.508 False ENSG00000074803 ENSG00000074803 HGNC:10910 SLC18A3 gene SLC18A3 Expert Review Green Newborns main panel BIALLELIC, autosomal or pseudoautosomal Congenital myasthenic syndrome-21 False 3 0;0;0 0.508 False ENSG00000187714 ENSG00000187714 HGNC:10936 SLC19A1 gene SLC19A1 Expert Review Green Newborns main panel BIALLELIC, autosomal or pseudoautosomal Folate dependent megaloblastic anaemia False 3 0;0;0 0.508 False ENSG00000173638 ENSG00000173638 HGNC:10937 SLC19A2 gene SLC19A2 Expert Review Green Newborns main panel BIALLELIC, autosomal or pseudoautosomal Thiamine Repsonsive Megaloblastic Anaemia Syndrome False 3 0;0;0 0.508 False ENSG00000117479 ENSG00000117479 HGNC:10938 SLC19A3 gene SLC19A3 Expert Review Green Newborns main panel BIALLELIC, autosomal or pseudoautosomal Biotin- or thiamine-responsive encephalopathy type 2 caused by SLC19A3 thiamine transporter deficiency False 3 0;0;0 0.508 False ENSG00000135917 ENSG00000135917 HGNC:16266 SLC22A5 gene SLC22A5 Expert Review Green Newborns main panel BIALLELIC, autosomal or pseudoautosomal Primary systemic carnitine deficiency False 3 0;0;0 0.508 False ENSG00000197375 ENSG00000197375 HGNC:10969 SLC25A1 gene SLC25A1 Expert Review Green Newborns main panel BIALLELIC, autosomal or pseudoautosomal Congenital myasthenic syndrome-23 False 3 0;0;0 0.508 False ENSG00000100075 ENSG00000100075 HGNC:10979 SLC25A13 gene SLC25A13 Expert Review Green Newborns main panel BIALLELIC, autosomal or pseudoautosomal Citrullinemia, type II, neonatal-onset False 3 0;0;0 0.508 False ENSG00000004864 ENSG00000004864 HGNC:10983 SLC25A15 gene SLC25A15 Expert Review Green Newborns main panel BIALLELIC, autosomal or pseudoautosomal Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome False 3 0;0;0 0.508 False ENSG00000102743 ENSG00000102743 HGNC:10985 SLC25A20 gene SLC25A20 Expert Review Green Newborns main panel BIALLELIC, autosomal or pseudoautosomal Carnitine-acylcarnitine translocase deficiency False 3 0;0;0 0.508 False ENSG00000178537 ENSG00000178537 HGNC:1421 SLC26A7 gene SLC26A7 Expert Review Green Newborns main panel BIALLELIC, autosomal or pseudoautosomal Thyroid dyshormonigenesis (no phenotype on OMIM) False 3 0;0;0 0.508 False ENSG00000147606 ENSG00000147606 HGNC:14467 SLC2A1 gene SLC2A1 Expert Review Green Newborns main panel BIALLELIC, autosomal or pseudoautosomal GLUT1 deficiency syndrome-1, Autosomal Recessive False 3 0;0;0 0.508 False ENSG00000117394 ENSG00000117394 HGNC:11005 SLC30A10 gene SLC30A10 Expert Review Green Newborns main panel BIALLELIC, autosomal or pseudoautosomal Hypermanganesaemia with dystonia 1 False 3 0;0;0 0.508 False ENSG00000196660 ENSG00000196660 HGNC:25355 SLC34A1 gene SLC34A1 Expert Review Green Newborns main panel BIALLELIC, autosomal or pseudoautosomal Hypercalcemia, infantile, 2 False 3 0;0;0 0.508 False ENSG00000131183 ENSG00000131183 HGNC:11019 SLC34A3 gene SLC34A3 Expert Review Green Newborns main panel BIALLELIC, autosomal or pseudoautosomal Hypophosphatemic rickets with hypercalciuria False 3 0;0;0 0.508 False ENSG00000198569 ENSG00000198569 HGNC:20305 SLC37A4 gene SLC37A4 Expert Review Green Newborns main panel BIALLELIC, autosomal or pseudoautosomal Glycogen storage disease type Ib and 1c False 3 0;0;0 0.508 False ENSG00000137700 ENSG00000137700 HGNC:4061 SLC39A4 gene SLC39A4 Expert Review Green Newborns main panel BIALLELIC, autosomal or pseudoautosomal Acrodermatitis enteropathica False 3 0;0;0 0.508 False ENSG00000147804 ENSG00000147804 HGNC:17129 SLC39A7 gene SLC39A7 Expert Review Green Newborns main panel BIALLELIC, autosomal or pseudoautosomal SLC39A7 associated Agammaglobulinaemia False 3 0;0;0 0.508 False ENSG00000112473 ENSG00000112473 HGNC:4927 SLC46A1 gene SLC46A1 Expert Review Green Newborns main panel BIALLELIC, autosomal or pseudoautosomal Hereditary folate malabsorption False 3 0;0;0 0.508 False ENSG00000076351 ENSG00000076351 HGNC:30521 SLC4A1 gene SLC4A1 Expert Review Green Newborns main panel BIALLELIC, autosomal or pseudoautosomal Distal renal tubular acidosis type 4 with hemolytic anaemia, autosomal recessive False 3 0;0;0 0.508 False ENSG00000004939 ENSG00000004939 HGNC:11027 SLC52A2 gene SLC52A2 Expert Review Green Newborns main panel BIALLELIC, autosomal or pseudoautosomal Riboflavin transporter deficiency (Brown-Vialetto-Van Laere syndrome 2) False 3 0;0;0 0.508 False ENSG00000185803 ENSG00000185803 HGNC:30224 SLC52A3 gene SLC52A3 Expert Review Green Newborns main panel BIALLELIC, autosomal or pseudoautosomal Riboflavin transporter deficiency (Brown-Vialetto-Van Laere syndrome 1) False 3 0;0;0 0.508 False ENSG00000101276 ENSG00000101276 HGNC:16187 SLC5A1 gene SLC5A1 Expert Review Green Newborns main panel BIALLELIC, autosomal or pseudoautosomal Glucose/galactose malabsorption False 3 0;0;0 0.508 False ENSG00000100170 ENSG00000100170 HGNC:11036 SLC5A5 gene SLC5A5 Expert Review Green Newborns main panel BIALLELIC, autosomal or pseudoautosomal Thyroid dyshormonigenesis 1 False 3 0;0;0 0.508 False ENSG00000105641 ENSG00000105641 HGNC:11040 SLC5A7 gene SLC5A7 Expert Review Green Newborns main panel BIALLELIC, autosomal or pseudoautosomal Congenital myasthenic syndrome-20 False 3 0;0;0 0.508 False ENSG00000115665 ENSG00000115665 HGNC:14025 SLC7A7 gene SLC7A7 Expert Review Green Newborns main panel BIALLELIC, autosomal or pseudoautosomal Lysinuric protein intolerance False 3 0;0;0 0.508 False ENSG00000155465 ENSG00000155465 HGNC:11065 SMARCD2 gene SMARCD2 Expert Review Green Newborns main panel BIALLELIC, autosomal or pseudoautosomal Specific granule deficiency 2 False 3 0;0;0 0.508 False ENSG00000108604 ENSG00000108604 HGNC:11107 SMN1 gene SMN1 Expert Review Green Newborns main panel BIALLELIC, autosomal or pseudoautosomal Spinal Muscular Atrophy False 3 0;0;0 0.508 False ENSG00000172062 ENSG00000172062 HGNC:11117 SNX10 gene SNX10 Expert Review Green Newborns main panel BIALLELIC, autosomal or pseudoautosomal Osteopetrosis type 8 False 3 0;0;0 0.508 False ENSG00000086300 ENSG00000086300 HGNC:14974 SP110 gene SP110 Expert Review Green Newborns main panel BIALLELIC, autosomal or pseudoautosomal Hepatic venoocclusive disease with immunodeficiency False 3 0;0;0 0.508 False ENSG00000135899 ENSG00000135899 HGNC:5401 SPAG1 gene SPAG1 Expert Review Green Newborns main panel BIALLELIC, autosomal or pseudoautosomal Primary Ciliary Dyskinesia 28 False 3 0;0;0 0.508 False ENSG00000104450 ENSG00000104450 HGNC:11212 SPARC gene SPARC Expert Review Green Newborns main panel BIALLELIC, autosomal or pseudoautosomal Osteogenesis imperfecta, type XVII False 3 0;0;0 0.508 False ENSG00000113140 ENSG00000113140 HGNC:11219 SPPL2A gene SPPL2A Expert Review Green Newborns main panel BIALLELIC, autosomal or pseudoautosomal Immunodeficiency 86, mycobacteriosis False 3 0;0;0 0.508 False ENSG00000138600 ENSG00000138600 HGNC:30227 SRP54 gene SRP54 Expert Review Green Newborns main panel MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown SRP54 related Shwachman-Diamond syndrome False 3 0;0;0 0.508 False Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments ENSG00000100883 ENSG00000100883 HGNC:11301 STAR gene STAR Expert Review Green Newborns main panel BIALLELIC, autosomal or pseudoautosomal STAR deficiency (congenital lipoid hyperplasia) False 3 0;0;0 0.508 False ENSG00000147465 ENSG00000147465 HGNC:11359 STAT1 gene STAT1 Expert Review Green Newborns main panel BIALLELIC, autosomal or pseudoautosomal Immunodeficiency 31B False 3 0;0;0 0.508 False ENSG00000115415 ENSG00000115415 HGNC:11362 STAT2 gene STAT2 Expert Review Green Newborns main panel BIALLELIC, autosomal or pseudoautosomal Immunodeficiency 44 False 3 0;0;0 0.508 False ENSG00000170581 ENSG00000170581 HGNC:11363 STAT3 gene STAT3 Expert Review Green Newborns main panel MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Hyper IgE recurrent infection syndrome False 3 0;0;0 0.508 False Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments ENSG00000168610 ENSG00000168610 HGNC:11364 STAT5B gene STAT5B Expert Review Green Newborns main panel BIALLELIC, autosomal or pseudoautosomal Growth hormone insensitivity with immune dysregulation 1, autosomal recessive False 3 0;0;0 0.508 False ENSG00000173757 ENSG00000173757 HGNC:11367 STK4 gene STK4 Expert Review Green Newborns main panel BIALLELIC, autosomal or pseudoautosomal STK4 associated T-cell immunodeficiency, recurrent infections, autoimmunity, and cardiac malformations False 3 0;0;0 0.508 False ENSG00000101109 ENSG00000101109 HGNC:11408 STX11 gene STX11 Expert Review Green Newborns main panel BIALLELIC, autosomal or pseudoautosomal Haemophagocytic lymphohistiocytosis, familial, 4 False 3 0;0;0 0.508 False ENSG00000135604 ENSG00000135604 HGNC:11429 STXBP2 gene STXBP2 Expert Review Green Newborns main panel BIALLELIC, autosomal or pseudoautosomal Familial haemophagocytic lymphohistiocytosis-5 False 3 0;0;0 0.508 False ENSG00000076944 ENSG00000076944 HGNC:11445 SYT2 gene SYT2 Expert Review Green Newborns main panel BIALLELIC, autosomal or pseudoautosomal Congenital myasthenic syndrome 7, autosomal recessive False 3 0;0;0 0.508 False ENSG00000143858 ENSG00000143858 HGNC:11510 TACR3 gene TACR3 Expert Review Green Newborns main panel BIALLELIC, autosomal or pseudoautosomal Hypogonadotropic hypogonadism 11 with or without anosmia False 3 0;0;0 0.508 False ENSG00000169836 ENSG00000169836 HGNC:11528 TAP1 gene TAP1 Expert Review Green Newborns main panel BIALLELIC, autosomal or pseudoautosomal TAP1 related bare lymphocyte syndrome False 3 0;0;0 0.508 False ENSG00000168394 ENSG00000168394 HGNC:43 TAP2 gene TAP2 Expert Review Green Newborns main panel BIALLELIC, autosomal or pseudoautosomal TAP2 related bare lymphocyte syndrome False 3 0;0;0 0.508 False ENSG00000204267 ENSG00000204267 HGNC:44 TAPBP gene TAPBP Expert Review Green Newborns main panel BIALLELIC, autosomal or pseudoautosomal MHC class I deficiency 3 False 3 0;0;0 0.508 False ENSG00000231925 ENSG00000231925 HGNC:11566 TAT gene TAT Expert Review Green Newborns main panel BIALLELIC, autosomal or pseudoautosomal Tyrosinemia, type II False 3 0;0;0 0.508 False ENSG00000198650 ENSG00000198650 HGNC:11573 TAZ gene TAZ Expert Review Green Newborns main panel X-LINKED: hemizygous mutation in males, biallelic mutations in females Barth Syndrome False 3 0;0;0 0.508 False ENSG00000102125 ENSG00000102125 HGNC:11577 TBL1X gene TBL1X Expert Review Green Newborns main panel X-LINKED: hemizygous mutation in males, biallelic mutations in females Hypothyroidism, congenital, nongoitrous, 8 False 3 0;0;0 0.508 False ENSG00000101849 ENSG00000101849 HGNC:11585 TBX19 gene TBX19 Expert Review Green Newborns main panel BIALLELIC, autosomal or pseudoautosomal Adrenocorticotropic hormone deficiency False 3 0;0;0 0.508 False ENSG00000143178 ENSG00000143178 HGNC:11596 TCF3 gene TCF3 Expert Review Green Newborns main panel BIALLELIC, autosomal or pseudoautosomal Agammaglobulinaemia 8, autosomal recessive False 3 0;0;0 0.508 False ENSG00000071564 ENSG00000071564 HGNC:11633 TCIRG1 gene TCIRG1 Expert Review Green Newborns main panel BIALLELIC, autosomal or pseudoautosomal Osteopetrosis type 1 False 3 0;0;0 0.508 False ENSG00000110719 ENSG00000110719 HGNC:11647 TCN2 gene TCN2 Expert Review Green Newborns main panel BIALLELIC, autosomal or pseudoautosomal Transcobalamin II deficiency False 3 0;0;0 0.508 False ENSG00000185339 ENSG00000185339 HGNC:11653 TF gene TF Expert Review Green Newborns main panel BIALLELIC, autosomal or pseudoautosomal Atransferrinaemia False 3 0;0;0 0.508 False ENSG00000091513 ENSG00000091513 HGNC:11740 TFRC gene TFRC Expert Review Green Newborns main panel BIALLELIC, autosomal or pseudoautosomal Immunodeficiency 46 False 3 0;0;0 0.508 False ENSG00000072274 ENSG00000072274 HGNC:11763 TG gene TG Expert Review Green Newborns main panel BIALLELIC, autosomal or pseudoautosomal Thyroid dyshormonogenesis 3 False 3 0;0;0 0.508 False ENSG00000042832 ENSG00000042832 HGNC:11764 TH gene TH Expert Review Green Newborns main panel BIALLELIC, autosomal or pseudoautosomal Dopa-responsive dystonia due to tyrosine hydroxylase deficiency False 3 0;0;0 0.508 False ENSG00000180176 ENSG00000180176 HGNC:11782 THRA gene THRA Expert Review Green Newborns main panel MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Resistance to thyroid hormone alpha (OMIM: Hypothyroidism, congenital, nongoitrous, 6) False 3 0;0;0 0.508 False Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments ENSG00000126351 ENSG00000126351 HGNC:11796 THRB gene THRB Expert Review Green Newborns main panel BIALLELIC, autosomal or pseudoautosomal Thyroid hormone resistance, autosomal recessive False 3 0;0;0 0.508 False ENSG00000151090 ENSG00000151090 HGNC:11799 TJP2 gene TJP2 Expert Review Green Newborns main panel BIALLELIC, autosomal or pseudoautosomal Cholestasis, progressive familial intrahepatic 4 False 3 0;0;0 0.508 False ENSG00000119139 ENSG00000119139 HGNC:11828 TLR3 gene TLR3 Expert Review Green Newborns main panel BIALLELIC, autosomal or pseudoautosomal Immunodeficiency 83 recessive loss of function False 3 0;0;0 0.508 False ENSG00000164342 ENSG00000164342 HGNC:11849 TMEM38B gene TMEM38B Expert Review Green Newborns main panel BIALLELIC, autosomal or pseudoautosomal Osteogenesis imperfecta, type XIV False 3 0;0;0 0.508 False ENSG00000095209 ENSG00000095209 HGNC:25535 TNFRSF11A gene TNFRSF11A Expert Review Green Newborns main panel BIALLELIC, autosomal or pseudoautosomal Osteopetrosis type 7 False 3 0;0;0 0.508 False ENSG00000141655 ENSG00000141655 HGNC:11908 TNFRSF11B gene TNFRSF11B Expert Review Green Newborns main panel BIALLELIC, autosomal or pseudoautosomal Paget disease of bone 5, juvenile-onset False 3 0;0;0 0.508 False ENSG00000164761 ENSG00000164761 HGNC:11909 TPK1 gene TPK1 Expert Review Green Newborns main panel BIALLELIC, autosomal or pseudoautosomal Thiamine Pyrophosphokinase Deficiency False 3 0;0;0 0.508 False ENSG00000196511 ENSG00000196511 HGNC:17358 TPO gene TPO Expert Review Green Newborns main panel BIALLELIC, autosomal or pseudoautosomal Thyroid dyshormonogenesis 2A False 3 0;0;0 0.508 False ENSG00000115705 ENSG00000115705 HGNC:12015 TRAC gene TRAC Expert Review Green Newborns main panel BIALLELIC, autosomal or pseudoautosomal Immunodeficiency 7 False 3 0;0;0 0.508 False ENSG00000229164 ENSG00000277734 HGNC:12029 TRHR gene TRHR Expert Review Green Newborns main panel BIALLELIC, autosomal or pseudoautosomal Hypothyroidism, congenital, nongoitrous, 7 False 3 0;0;0 0.508 False ENSG00000174417 ENSG00000174417 HGNC:12299 TRIM28 gene TRIM28 Expert Review Green Newborns main panel MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown TRIM28 related Wilms tumour predisposition False 3 0;0;0 0.508 False ENSG00000130726 ENSG00000130726 HGNC:16384 TRPM6 gene TRPM6 Expert Review Green Newborns main panel BIALLELIC, autosomal or pseudoautosomal Hypomagnesemia 1, intestinal False 3 0;0;0 0.508 False ENSG00000119121 ENSG00000119121 HGNC:17995 TSHB gene TSHB Expert Review Green Newborns main panel BIALLELIC, autosomal or pseudoautosomal Hypothyroidism, congenital, nongoitrous 4 False 3 0;0;0 0.508 False ENSG00000134200 ENSG00000134200 HGNC:12372 TSHR gene TSHR Expert Review Green Newborns main panel BIALLELIC, autosomal or pseudoautosomal Hypothyroidism, congenital, nongoitrous, 1 False 3 0;0;0 0.508 False ENSG00000165409 ENSG00000165409 HGNC:12373 TTC25 gene TTC25 Expert Review Green Newborns main panel BIALLELIC, autosomal or pseudoautosomal primary ciliary dyskinesia 35 False 3 0;0;0 0.508 False ENSG00000204815 ENSG00000204815 HGNC:25280 TTC37 gene TTC37 Expert Review Green Newborns main panel BIALLELIC, autosomal or pseudoautosomal Trichohepatoenteric syndrome 1 False 3 0;0;0 0.508 False ENSG00000198677 ENSG00000198677 HGNC:23639 TTC7A gene TTC7A Expert Review Green Newborns main panel BIALLELIC, autosomal or pseudoautosomal Gastrointestinal defects and immunodeficiency syndrome False 3 0;0;0 0.508 False ENSG00000068724 ENSG00000068724 HGNC:19750 TTPA gene TTPA Expert Review Green Newborns main panel BIALLELIC, autosomal or pseudoautosomal Ataxia with vitamin E deficiency False 3 0;0;0 0.508 False ENSG00000137561 ENSG00000137561 HGNC:12404 UGT1A1 gene UGT1A1 Expert Review Green Newborns main panel BIALLELIC, autosomal or pseudoautosomal Crigler-Najjar syndrome Type I False 3 0;0;0 0.508 False ENSG00000241635 ENSG00000241635 HGNC:12530 UMPS gene UMPS Expert Review Green Newborns main panel BIALLELIC, autosomal or pseudoautosomal Orotic aciduria False 3 0;0;0 0.508 False ENSG00000114491 ENSG00000114491 HGNC:12563 UNC13D gene UNC13D Expert Review Green Newborns main panel BIALLELIC, autosomal or pseudoautosomal Haemophagocytic lymphohistiocytosis, familial, 3 False 3 0;0;0 0.508 False ENSG00000092929 ENSG00000092929 HGNC:23147 UNG gene UNG Expert Review Green Newborns main panel BIALLELIC, autosomal or pseudoautosomal Immunodeficiency with hyper IgM, type 5 False 3 0;0;0 0.508 False ENSG00000076248 ENSG00000076248 HGNC:12572 UROD gene UROD Expert Review Green Newborns main panel BIALLELIC, autosomal or pseudoautosomal Porphyria, hepatoerythropoietic False 3 0;0;0 0.508 False ENSG00000126088 ENSG00000126088 HGNC:12591 UROS gene UROS Expert Review Green Newborns main panel BIALLELIC, autosomal or pseudoautosomal Congenital erythropoietic porphyria False 3 0;0;0 0.508 False ENSG00000188690 ENSG00000188690 HGNC:12592 USB1 gene USB1 Expert Review Green Newborns main panel BIALLELIC, autosomal or pseudoautosomal Poikiloderma with neutropenia False 3 0;0;0 0.508 False ENSG00000103005 ENSG00000103005 HGNC:25792 USP53 gene USP53 Expert Review Green Newborns main panel BIALLELIC, autosomal or pseudoautosomal Cholestasis, progressive familial intrahepatic, 7, with or without hearing loss False 3 0;0;0 0.508 False ENSG00000145390 ENSG00000145390 HGNC:29255 VAMP1 gene VAMP1 Expert Review Green Newborns main panel BIALLELIC, autosomal or pseudoautosomal Congenital myasthenic syndrome-25 False 3 0;0;0 0.508 False ENSG00000139190 ENSG00000139190 HGNC:12642 VDR gene VDR Expert Review Green Newborns main panel BIALLELIC, autosomal or pseudoautosomal Rickets, vitamin D-resistant, type IIA False 3 0;0;0 0.508 False ENSG00000111424 ENSG00000111424 HGNC:12679 VPS45 gene VPS45 Expert Review Green Newborns main panel BIALLELIC, autosomal or pseudoautosomal Severe congenital neutropenia 5 False 3 0;0;0 0.508 False ENSG00000136631 ENSG00000136631 HGNC:14579 WAS gene WAS Expert Review Green Newborns main panel X-LINKED: hemizygous mutation in males, biallelic mutations in females Wiskott Aldrich syndrome False 3 0;0;0 0.508 False ENSG00000015285 ENSG00000015285 HGNC:12731 WNK1 gene WNK1 Expert Review Green Newborns main panel MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Pseudohypoaldosteronism, type IIC False 3 0;0;0 0.508 False Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments ENSG00000060237 ENSG00000060237 HGNC:14540 WNT1 gene WNT1 Expert Review Green Newborns main panel BIALLELIC, autosomal or pseudoautosomal Osteogenesis imperfecta, type XV False 3 0;0;0 0.508 False ENSG00000125084 ENSG00000125084 HGNC:12774 WT1 gene WT1 Expert Review Green Newborns main panel MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Wilms Tumour type 1/ Denys-Drash syndrome False 3 0;0;0 0.508 False ENSG00000184937 ENSG00000184937 HGNC:12796 XIAP gene XIAP Expert Review Green Newborns main panel X-LINKED: hemizygous mutation in males, biallelic mutations in females X-Linked inhibitor of apoptosis protein False 3 0;0;0 0.508 False ENSG00000101966 ENSG00000101966 HGNC:592 XPA gene XPA Expert Review Green Newborns main panel BIALLELIC, autosomal or pseudoautosomal Xeroderma pigmentosum, group A False 3 0;0;0 0.508 False ENSG00000136936 ENSG00000136936 HGNC:12814 XPC gene XPC Expert Review Green Newborns main panel BIALLELIC, autosomal or pseudoautosomal Xeroderma pigmentosum, group C False 3 0;0;0 0.508 False ENSG00000154767 ENSG00000154767 HGNC:12816 ZAP70 gene ZAP70 Expert Review Green Newborns main panel BIALLELIC, autosomal or pseudoautosomal Immunodeficiency 48, severe combined False 3 0;0;0 0.508 False ENSG00000115085 ENSG00000115085 HGNC:12858 ZBTB24 gene ZBTB24 Expert Review Green Newborns main panel BIALLELIC, autosomal or pseudoautosomal Immunodeficiency-centromeric instability-facial anomalies syndrome 2 False 3 0;0;0 0.508 False ENSG00000112365 ENSG00000112365 HGNC:21143 ZFYVE19 gene ZFYVE19 Expert Review Green Newborns main panel BIALLELIC, autosomal or pseudoautosomal Cholestasis, progressive familial intrahepatic, 9 False 3 0;0;0 0.508 False ENSG00000166140 ENSG00000166140 HGNC:20758 ZMYND10 gene ZMYND10 Expert Review Green Newborns main panel BIALLELIC, autosomal or pseudoautosomal primary ciliary dyskinesia 22 False 3 0;0;0 0.508 False ENSG00000004838 ENSG00000004838 HGNC:19412 ZNFX1 gene ZNFX1 Expert Review Green Newborns main panel BIALLELIC, autosomal or pseudoautosomal Immunodeficiency 91 and hyperinflammation False 3 0;0;0 0.508 False ENSG00000124201 ENSG00000124201 HGNC:29271 ABCC9 gene ABCC9 Expert Review Amber Newborns main panel MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown ABCC9 associated hypertrichotic osteochondrodysplasia False 2 0;0;0 0.508 False Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments ENSG00000069431 ENSG00000069431 HGNC:60 ABCG5 gene ABCG5 Expert Review Amber Newborns main panel BIALLELIC, autosomal or pseudoautosomal Sitosterolemia 1 False 2 0;0;0 0.508 False ENSG00000138075 ENSG00000138075 HGNC:13886 ABCG8 gene ABCG8 Expert Review Amber Newborns main panel BIALLELIC, autosomal or pseudoautosomal Sitosterolemia 2 False 2 0;0;0 0.508 False ENSG00000143921 ENSG00000143921 HGNC:13887 ACVR1 gene ACVR1 Expert Review Amber Newborns main panel MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Fibrodysplasia ossificans progressiva False 2 0;0;0 0.508 False Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments ENSG00000115170 ENSG00000115170 HGNC:171 ADAR gene ADAR Expert Review Amber Newborns main panel BIALLELIC, autosomal or pseudoautosomal Aicardi-Goutieres syndrome 6, autosomal recessive False 2 0;0;0 0.508 False ENSG00000160710 ENSG00000160710 HGNC:225 AHCY gene AHCY Expert Review Amber Newborns main panel BIALLELIC, autosomal or pseudoautosomal Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase False 2 0;0;0 0.508 False ENSG00000101444 ENSG00000101444 HGNC:343 AKT2 gene AKT2 Expert Review Amber Newborns main panel MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Hypoinsulinemic hypoglycemia False 2 0;0;0 0.508 False Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments ENSG00000105221 ENSG00000105221 HGNC:392 ALAD gene ALAD Expert Review Amber Newborns main panel BIALLELIC, autosomal or pseudoautosomal Porphyria, acute hepatic False 2 0;0;0 0.508 False ENSG00000148218 ENSG00000148218 HGNC:395 ALAS2 gene ALAS2 Expert Review Amber Newborns main panel X-LINKED: hemizygous mutation in males, biallelic mutations in females Anemia, sideroblastic, 1 False 2 0;0;0 0.508 False ENSG00000158578 ENSG00000158578 HGNC:397 ALDH4A1 gene ALDH4A1 Expert Review Amber Newborns main panel BIALLELIC, autosomal or pseudoautosomal Hyperprolinemia, type II False 2 0;0;0 0.508 False ENSG00000159423 ENSG00000159423 HGNC:406 ALK gene ALK Expert Review Amber Newborns main panel MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown ALK-related neuroblastic tumor susceptibility False 2 0;0;0 0.508 False Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments ENSG00000171094 ENSG00000171094 HGNC:427 APOE gene APOE Expert Review Amber Newborns main panel MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Apolipoprotein (apo) E Leu167del variant False 2 0;0;0 0.508 False Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments ENSG00000130203 ENSG00000130203 HGNC:613 APPL1 gene APPL1 Expert Review Amber Newborns main panel MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Maturity-onset diabetes of the young, type 14 False 2 0;0;0 0.508 False ENSG00000157500 ENSG00000157500 HGNC:24035 ARMC5 gene ARMC5 Expert Review Amber Newborns main panel MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown ACTH-independent macronodular adrenal hyperplasia 2 False 2 0;0;0 0.508 False ENSG00000140691 ENSG00000140691 HGNC:25781 ATP7A gene ATP7A Expert Review Amber Newborns main panel X-LINKED: hemizygous mutation in males, biallelic mutations in females Menkes disease False 2 0;0;0 0.508 False ENSG00000165240 ENSG00000165240 HGNC:869 BCL10 gene BCL10 Expert Review Amber Newborns main panel BIALLELIC, autosomal or pseudoautosomal immunodeficiency 37 False 2 0;0;0 0.508 False ENSG00000142867 ENSG00000142867 HGNC:989 BRCA1 gene BRCA1 Expert Review Amber Newborns main panel BIALLELIC, autosomal or pseudoautosomal Fanconi anemia, complementation group S False 2 0;0;0 0.508 False ENSG00000012048 ENSG00000012048 HGNC:1100 BRCA2 gene BRCA2 Expert Review Amber Newborns main panel BIALLELIC, autosomal or pseudoautosomal Fanconi anemia, complementation group D1 False 2 0;0;0 0.508 False ENSG00000139618 ENSG00000139618 HGNC:1101 BRIP1 gene BRIP1 Expert Review Amber Newborns main panel BIALLELIC, autosomal or pseudoautosomal Fanconi anemia, complementation group J False 2 0;0;0 0.508 False ENSG00000136492 ENSG00000136492 HGNC:20473 BSND gene BSND Expert Review Amber Newborns main panel BIALLELIC, autosomal or pseudoautosomal Bartter syndrome, type 4a False 2 0;0;0 0.508 False ENSG00000162399 ENSG00000162399 HGNC:16512 C1QA gene C1QA Expert Review Amber Newborns main panel BIALLELIC, autosomal or pseudoautosomal C1QA associated C1q deficiency False 2 0;0;0 0.508 False ENSG00000173372 ENSG00000173372 HGNC:1241 C1QB gene C1QB Expert Review Amber Newborns main panel BIALLELIC, autosomal or pseudoautosomal C1QB associated C1q deficiency False 2 0;0;0 0.508 False ENSG00000173369 ENSG00000173369 HGNC:1242 C1QC gene C1QC Expert Review Amber Newborns main panel BIALLELIC, autosomal or pseudoautosomal C1QC associated C1q deficiency False 2 0;0;0 0.508 False ENSG00000159189 ENSG00000159189 HGNC:1245 CA12 gene CA12 Expert Review Amber Newborns main panel BIALLELIC, autosomal or pseudoautosomal Isolated hyperchlorhidrosis False 2 0;0;0 0.508 False ENSG00000074410 ENSG00000074410 HGNC:1371 CACNA1A gene CACNA1A Expert Review Amber Newborns main panel MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Episodic ataxia, type 2 False 2 0;0;0 0.508 False ENSG00000141837 ENSG00000141837 HGNC:1388 CACNA1C gene CACNA1C Expert Review Amber Newborns main panel MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Long QT Syndrome 8 False 2 0;0;0 0.508 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 CACNA1D gene CACNA1D Expert Review Amber Newborns main panel MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Primary aldosteronism, seizures, and neurologic abnormalities False 2 0;0;0 0.508 False Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments ENSG00000157388 ENSG00000157388 HGNC:1391 CACNA1H gene CACNA1H Expert Review Amber Newborns main panel MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Hyperaldosteronism, familial, type IV False 2 0;0;0 0.508 False Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments ENSG00000196557 ENSG00000196557 HGNC:1395 CACNA1S gene CACNA1S Expert Review Amber Newborns main panel MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Hypokalemic periodic paralysis type 1 False 2 0;0;0 0.508 False Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments ENSG00000081248 ENSG00000081248 HGNC:1397 CALM1 gene CALM1 Expert Review Amber Newborns main panel MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Long QT Syndrome 14 and Catecholaminergic polymorphic ventricular tachycardia False 2 0;0;0 0.508 False Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments ENSG00000198668 ENSG00000198668 HGNC:1442 CALM2 gene CALM2 Expert Review Amber Newborns main panel MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Long QT Syndrome 15 and Catecholaminergic polymorphic ventricular tachycardia False 2 0;0;0 0.508 False Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments ENSG00000143933 ENSG00000143933 HGNC:1445 CALM3 gene CALM3 Expert Review Amber Newborns main panel MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Long QT Syndrome 16 and Catecholaminergic polymorphic ventricular tachycardia False 2 0;0;0 0.508 False Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments ENSG00000160014 ENSG00000160014 HGNC:1449 CARD11 gene CARD11 Expert Review Amber Newborns main panel BIALLELIC, autosomal or pseudoautosomal Immunodeficiency 11A False 2 0;0;0 0.508 False ENSG00000198286 ENSG00000198286 HGNC:16393 CARD14 gene CARD14 Expert Review Amber Newborns main panel MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Pityriasis rubra pilaris False 2 0;0;0 0.508 False Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments ENSG00000141527 ENSG00000141527 HGNC:16446 CASQ2 gene CASQ2 Expert Review Amber Newborns main panel BIALLELIC, autosomal or pseudoautosomal Ventricular tachycardia, catecholaminergic polymorphic, 2 False 2 0;0;0 0.508 False ENSG00000118729 ENSG00000118729 HGNC:1513 CD19 gene CD19 Expert Review Amber Newborns main panel BIALLELIC, autosomal or pseudoautosomal Common variable immune deficiency 3 False 2 0;0;0 0.508 False ENSG00000177455 ENSG00000177455 HGNC:1633 CD27 gene CD27 Expert Review Amber Newborns main panel BIALLELIC, autosomal or pseudoautosomal Immune dysregulation 2 False 2 0;0;0 0.508 False ENSG00000139193 ENSG00000139193 HGNC:11922 CD320 gene CD320 Expert Review Amber Newborns main panel BIALLELIC, autosomal or pseudoautosomal Methylmalonic aciduria, transient, due to transcobalamin receptor defect False 2 0;0;0 0.508 False ENSG00000167775 ENSG00000167775 HGNC:16692 CD46 gene CD46 Expert Review Amber Newborns main panel BIALLELIC, autosomal or pseudoautosomal Hemolytic uremic syndrome, atypical, susceptibility to, 2, autosomal recessive False 2 0;0;0 0.508 False ENSG00000117335 ENSG00000117335 HGNC:6953 CD55 gene CD55 Expert Review Amber Newborns main panel BIALLELIC, autosomal or pseudoautosomal Complement hyperactivation, angiopathic thrombosis, and protein-losing enteropathy False 2 0;0;0 0.508 False ENSG00000196352 ENSG00000196352 HGNC:2665 CD81 gene CD81 Expert Review Amber Newborns main panel BIALLELIC, autosomal or pseudoautosomal Common variable immune deficiency 6 False 2 0;0;0 0.508 False ENSG00000110651 ENSG00000110651 HGNC:1701 CEL gene CEL Expert Review Amber Newborns main panel MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Maturity-onset diabetes of the young, type VIII False 2 0;0;0 0.508 False Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments ENSG00000170835 ENSG00000170835 HGNC:1848 CFB gene CFB Expert Review Amber Newborns main panel BIALLELIC, autosomal or pseudoautosomal Complement factor B deficiency False 2 0;0;0 0.508 False ENSG00000243649 ENSG00000243649 HGNC:1037 CFHR1 gene CFHR1 Expert Review Amber Newborns main panel MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown CFHR1 associated susceptibility to atypical hemolytic uremic syndrome False 2 0;0;0 0.508 False ENSG00000244414 ENSG00000244414 HGNC:4888 CLCN1 gene CLCN1 Expert Review Amber Newborns main panel BIALLELIC, autosomal or pseudoautosomal Myotonia congenita, recessive False 2 0;0;0 0.508 False ENSG00000188037 ENSG00000188037 HGNC:2019 CLCN2 gene CLCN2 Expert Review Amber Newborns main panel MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Hyperaldosteronism, familial, type II False 2 0;0;0 0.508 False Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments ENSG00000114859 ENSG00000114859 HGNC:2020 CLCNKB gene CLCNKB Expert Review Amber Newborns main panel BIALLELIC, autosomal or pseudoautosomal Bartter syndrome, type 3 False 2 0;0;0 0.508 False ENSG00000184908 ENSG00000184908 HGNC:2027 COPA gene COPA Expert Review Amber Newborns main panel MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Autoimmune interstitial lung, joint, and kidney disease False 2 0;0;0 0.508 False Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments ENSG00000122218 ENSG00000122218 HGNC:2230 CP gene CP Expert Review Amber Newborns main panel BIALLELIC, autosomal or pseudoautosomal Hemosiderosis, systemic, due to aceruloplasminemia False 2 0;0;0 0.508 False ENSG00000047457 ENSG00000047457 HGNC:2295 CPOX gene CPOX Expert Review Amber Newborns main panel MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Coproporphyria False 2 0;0;0 0.508 False ENSG00000080819 ENSG00000080819 HGNC:2321 CR2 gene CR2 Expert Review Amber Newborns main panel BIALLELIC, autosomal or pseudoautosomal Common variable immune deficiency 7 False 2 0;0;0 0.508 False ENSG00000117322 ENSG00000117322 HGNC:2336 CTLA4 gene CTLA4 Expert Review Amber Newborns main panel MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Immune dysregulation with autoimmunity, immunodeficiency, and lymphoproliferation False 2 0;0;0 0.508 False ENSG00000163599 ENSG00000163599 HGNC:2505 CYB561 gene CYB561 Expert Review Amber Newborns main panel BIALLELIC, autosomal or pseudoautosomal Orthostatic hypotension 2 False 2 0;0;0 0.508 False ENSG00000008283 ENSG00000008283 HGNC:2571 CYP21A2 gene CYP21A2 Expert Review Amber Newborns main panel BIALLELIC, autosomal or pseudoautosomal Congenital adrenal hyperplasia due to 21-hydroxylase deficiency False 2 0;0;0 0.508 False ENSG00000231852 ENSG00000231852 HGNC:2600 DBH gene DBH Expert Review Amber Newborns main panel BIALLELIC, autosomal or pseudoautosomal Orthostatic hypotension 1, due to DBH deficiency False 2 0;0;0 0.508 False ENSG00000123454 ENSG00000123454 HGNC:2689 DGKE gene DGKE Expert Review Amber Newborns main panel BIALLELIC, autosomal or pseudoautosomal Hemolytic uremic syndrome, atypical, susceptibility to, 7 False 2 0;0;0 0.508 False ENSG00000153933 ENSG00000153933 HGNC:2852 DICER1 gene DICER1 Expert Review Amber Newborns main panel MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Pleuropulmonary blastoma predisposition syndrome False 2 0;0;0 0.508 False ENSG00000100697 ENSG00000100697 HGNC:17098 DIS3L2 gene DIS3L2 Expert Review Amber Newborns main panel BIALLELIC, autosomal or pseudoautosomal Perlman syndrome False 2 0;0;0 0.508 False ENSG00000144535 ENSG00000144535 HGNC:28648 DMD gene DMD Expert Review Amber Newborns main panel X-LINKED: hemizygous mutation in males, biallelic mutations in females Duchenne Muscular Dystrophy False 2 0;0;0 0.508 False ENSG00000198947 ENSG00000198947 HGNC:2928 DNASE2 gene DNASE2 Expert Review Amber Newborns main panel BIALLELIC, autosomal or pseudoautosomal DNASE2 deficiency False 2 0;0;0 0.508 False ENSG00000105612 ENSG00000105612 HGNC:2960 ECHS1 gene ECHS1 Expert Review Amber Newborns main panel BIALLELIC, autosomal or pseudoautosomal Mitochondrial short-chain enoyl-CoA hydratase 1 deficiency False 2 0;0;0 0.508 False ENSG00000127884 ENSG00000127884 HGNC:3151 EIF2S3 gene EIF2S3 Expert Review Amber Newborns main panel X-LINKED: hemizygous mutation in males, biallelic mutations in females MEHMO syndrome False 2 0;0;0 0.508 False ENSG00000130741 ENSG00000130741 HGNC:3267 ELF4 gene ELF4 Expert Review Amber Newborns main panel X-LINKED: hemizygous mutation in males, biallelic mutations in females Autoinflammatory syndrome, familial, X-linked, Behcet-like 2 False 2 0;0;0 0.508 False ENSG00000102034 ENSG00000102034 HGNC:3319 EPCAM gene EPCAM Expert Review Amber Newborns main panel BIALLELIC, autosomal or pseudoautosomal Diarrhoea 5, with tufting enteropathy, congenital False 2 0;0;0 0.508 False ENSG00000119888 ENSG00000119888 HGNC:11529 ERCC4 gene ERCC4 Expert Review Amber Newborns main panel BIALLELIC, autosomal or pseudoautosomal Fanconi anemia, complementation group Q False 2 0;0;0 0.508 False ENSG00000175595 ENSG00000175595 HGNC:3436 ERCC6L2 gene ERCC6L2 Expert Review Amber Newborns main panel BIALLELIC, autosomal or pseudoautosomal Bone marrow failure syndrome 2 False 2 0;0;0 0.508 False ENSG00000182150 ENSG00000182150 HGNC:26922 F11 gene F11 Expert Review Amber Newborns main panel BIALLELIC, autosomal or pseudoautosomal Factor XI deficiency, autosomal recessive False 2 0;0;0 0.508 False ENSG00000088926 ENSG00000088926 HGNC:3529 FANCA gene FANCA Expert Review Amber Newborns main panel BIALLELIC, autosomal or pseudoautosomal Fanconi anemia, complementation group A False 2 0;0;0 0.508 False ENSG00000187741 ENSG00000187741 HGNC:3582 FANCB gene FANCB Expert Review Amber Newborns main panel X-LINKED: hemizygous mutation in males, biallelic mutations in females Fanconi anemia, complementation group B False 2 0;0;0 0.508 False ENSG00000181544 ENSG00000181544 HGNC:3583 FANCC gene FANCC Expert Review Amber Newborns main panel BIALLELIC, autosomal or pseudoautosomal Fanconi anemia, complementation group C False 2 0;0;0 0.508 False ENSG00000158169 ENSG00000158169 HGNC:3584 FANCD2 gene FANCD2 Expert Review Amber Newborns main panel BIALLELIC, autosomal or pseudoautosomal Fanconi anemia, complementation group D2 False 2 0;0;0 0.508 False ENSG00000144554 ENSG00000144554 HGNC:3585 FANCE gene FANCE Expert Review Amber Newborns main panel BIALLELIC, autosomal or pseudoautosomal Fanconi anemia, complementation group E False 2 0;0;0 0.508 False ENSG00000112039 ENSG00000112039 HGNC:3586 FANCF gene FANCF Expert Review Amber Newborns main panel BIALLELIC, autosomal or pseudoautosomal Fanconi anemia, complementation group F False 2 0;0;0 0.508 False ENSG00000183161 ENSG00000183161 HGNC:3587 FANCG gene FANCG Expert Review Amber Newborns main panel BIALLELIC, autosomal or pseudoautosomal Fanconi anemia, complementation group G False 2 0;0;0 0.508 False ENSG00000221829 ENSG00000221829 HGNC:3588 FANCI gene FANCI Expert Review Amber Newborns main panel BIALLELIC, autosomal or pseudoautosomal Fanconi anemia, complementation group I False 2 0;0;0 0.508 False ENSG00000140525 ENSG00000140525 HGNC:25568 FANCL gene FANCL Expert Review Amber Newborns main panel BIALLELIC, autosomal or pseudoautosomal Fanconi anemia, complementation group L False 2 0;0;0 0.508 False ENSG00000115392 ENSG00000115392 HGNC:20748 FARS2 gene FARS2 Expert Review Amber Newborns main panel BIALLELIC, autosomal or pseudoautosomal Spastic paraplegia 77, autosomal recessive False 2 0;0;0 0.508 False ENSG00000145982 ENSG00000145982 HGNC:21062 FGFR3 gene FGFR3 Expert Review Amber Newborns main panel MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Achondroplasia False 2 0;0;0 0.508 False Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments ENSG00000068078 ENSG00000068078 HGNC:3690 FOXA2 gene FOXA2 Expert Review Amber Newborns main panel MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown FOXA2 associated hyperinsulinism and hypopituitarism. No OMIM phenotype. Clingen moderate gene disease association with combined pituitary hormone deficiencies, genetic form False 2 0;0;0 0.508 False ENSG00000125798 ENSG00000125798 HGNC:5022 FOXI1 gene FOXI1 Expert Review Amber Newborns main panel BIALLELIC, autosomal or pseudoautosomal FOXI1 associated distal renal tubular acidosis False 2 0;0;0 0.508 False ENSG00000168269 ENSG00000168269 HGNC:3815 FUCA1 gene FUCA1 Expert Review Amber Newborns main panel BIALLELIC, autosomal or pseudoautosomal Fucosidosis False 2 0;0;0 0.508 False ENSG00000179163 ENSG00000179163 HGNC:4006 FXN gene FXN Expert Review Amber Newborns main panel BIALLELIC, autosomal or pseudoautosomal Friedreich ataxia False 2 0;0;0 0.508 False ENSG00000165060 ENSG00000165060 HGNC:3951 FXYD2 gene FXYD2 Expert Review Amber Newborns main panel MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Hypomagnesemia 2, renal False 2 0;0;0 0.508 False Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments ENSG00000137731 ENSG00000137731 HGNC:4026 G6PD gene G6PD Expert Review Amber Newborns main panel X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) G6PD deficient hemolytic anemia False 2 0;100;0 0.508 False ENSG00000160211 ENSG00000160211 HGNC:4057 GALC gene GALC Expert Review Amber Newborns main panel BIALLELIC, autosomal or pseudoautosomal Krabbe disease False 2 0;0;0 0.508 False ENSG00000054983 ENSG00000054983 HGNC:4115 GALM gene GALM Expert Review Amber Newborns main panel BIALLELIC, autosomal or pseudoautosomal Galactosemia IV False 2 0;0;0 0.508 False ENSG00000143891 ENSG00000143891 HGNC:24063 GATA1 gene GATA1 Expert Review Amber Newborns main panel X-LINKED: hemizygous mutation in males, biallelic mutations in females GATA1 associated X-Linked Cytopenia False 2 0;0;0 0.508 False ENSG00000102145 ENSG00000102145 HGNC:4170 GATA2 gene GATA2 Expert Review Amber Newborns main panel MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Immunodeficiency 21 False 2 0;0;0 0.508 False ENSG00000179348 ENSG00000179348 HGNC:4171 GATA4 gene GATA4 Expert Review Amber Newborns main panel MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Pancreatic agenesis and congenital heart defects (no matching phenotype on OMIM) False 2 0;0;0 0.508 False ENSG00000136574 ENSG00000136574 HGNC:4173 GATA6 gene GATA6 Expert Review Amber Newborns main panel MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Pancreatic agenesis and congenital heart defects False 2 0;0;0 0.508 False ENSG00000141448 ENSG00000141448 HGNC:4174 GBA gene GBA Expert Review Amber Newborns main panel BIALLELIC, autosomal or pseudoautosomal Gaucher disease False 2 0;0;0 0.508 False ENSG00000177628 ENSG00000177628 HGNC:4177 GCH1 gene GCH1 Expert Review Amber Newborns main panel BIALLELIC, autosomal or pseudoautosomal Dopa-responsive dystonia due to GTP cyclohydrolase 1 deficiency, autosomal recessive False 2 0;0;0 0.508 False ENSG00000131979 ENSG00000131979 HGNC:4193 GGCX gene GGCX Expert Review Amber Newborns main panel BIALLELIC, autosomal or pseudoautosomal Vitamin K-dependent clotting factors, combined deficiency of, 1 False 2 0;0;0 0.508 False ENSG00000115486 ENSG00000115486 HGNC:4247 GLA gene GLA Expert Review Amber Newborns main panel X-LINKED: hemizygous mutation in males, biallelic mutations in females Fabry Disease False 2 0;0;0 0.508 False ENSG00000102393 ENSG00000102393 HGNC:4296 GLRA1 gene GLRA1 Expert Review Amber Newborns main panel BIALLELIC, autosomal or pseudoautosomal Hyperekplexia 1 autosomal recessive False 2 0;0;0 0.508 False ENSG00000145888 ENSG00000145888 HGNC:4326 GLRB gene GLRB Expert Review Amber Newborns main panel BIALLELIC, autosomal or pseudoautosomal Hyperekplexia 2 False 2 0;0;0 0.508 False ENSG00000109738 ENSG00000109738 HGNC:4329 GLRX5 gene GLRX5 Expert Review Amber Newborns main panel BIALLELIC, autosomal or pseudoautosomal Anemia, sideroblastic, 3, pyridoxine-refractory False 2 0;0;0 0.508 False ENSG00000182512 ENSG00000182512 HGNC:20134 GNAS gene GNAS Expert Review Amber Newborns main panel MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Pseudohypoparathyroidism Ia False 2 0;0;0 0.508 False ENSG00000087460 ENSG00000087460 HGNC:4392 GNE gene GNE Expert Review Amber Newborns main panel BIALLELIC, autosomal or pseudoautosomal Nonaka myopathy False 2 0;0;0 0.508 False ENSG00000159921 ENSG00000159921 HGNC:23657 GOT2 gene GOT2 Expert Review Amber Newborns main panel BIALLELIC, autosomal or pseudoautosomal Developmental and epileptic encephalopathy 82 False 2 0;0;0 0.508 False ENSG00000125166 ENSG00000125166 HGNC:4433 GRIN2A gene GRIN2A Expert Review Amber Newborns main panel MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Focal epilepsy and speech disorder False 2 0;0;0 0.508 False ENSG00000183454 ENSG00000183454 HGNC:4585 GYS2 gene GYS2 Expert Review Amber Newborns main panel BIALLELIC, autosomal or pseudoautosomal glycogen storage disease type 0 False 2 0;0;0 0.508 False ENSG00000111713 ENSG00000111713 HGNC:4707 HAMP gene HAMP Expert Review Amber Newborns main panel BIALLELIC, autosomal or pseudoautosomal Hemochromatosis, type 2B False 2 0;0;0 0.508 False ENSG00000105697 ENSG00000105697 HGNC:15598 HAVCR2 gene HAVCR2 Expert Review Amber Newborns main panel BIALLELIC, autosomal or pseudoautosomal Subcutaneous panniculitis-like T cell lymphoma False 2 0;0;0 0.508 False ENSG00000135077 ENSG00000135077 HGNC:18437 HBA1 gene HBA1 Expert Review Amber Newborns main panel BIALLELIC, autosomal or pseudoautosomal Alpha Thalassaemia False 2 0;0;0 0.508 False ENSG00000206172 ENSG00000206172 HGNC:4823 HBA2 gene HBA2 Expert Review Amber Newborns main panel BIALLELIC, autosomal or pseudoautosomal Alpha Thalassaemia False 2 0;0;0 0.508 False ENSG00000188536 ENSG00000188536 HGNC:4824 HCFC1 gene HCFC1 Expert Review Amber Newborns main panel X-LINKED: hemizygous mutation in males, biallelic mutations in females Methylmalonic aciduria and homocysteinemia, cblX type False 2 0;0;0 0.508 False ENSG00000172534 ENSG00000172534 HGNC:4839 HFE2 gene HFE2 Expert Review Amber Newborns main panel BIALLELIC, autosomal or pseudoautosomal Hemochromatosis, type 2A False 2 0;0;0 0.508 False ENSG00000168509 ENSG00000168509 HGNC:4887 HGD gene HGD Expert Review Amber Newborns main panel BIALLELIC, autosomal or pseudoautosomal Alkaptonuria False 2 0;0;0 0.508 False ENSG00000113924 ENSG00000113924 HGNC:4892 HIBCH gene HIBCH Expert Review Amber Newborns main panel BIALLELIC, autosomal or pseudoautosomal 3-hydroxyisobutryl-CoA hydrolase deficiency False 2 0;0;0 0.508 False ENSG00000198130 ENSG00000198130 HGNC:4908 HMBS gene HMBS Expert Review Amber Newborns main panel MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Porphyria, acute intermittent False 2 0;0;0 0.508 False ENSG00000256269 ENSG00000256269 HGNC:4982 HNF1A gene HNF1A Expert Review Amber Newborns main panel MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown HNF1A associated hyperinsulinism False 2 0;0;0 0.508 False ENSG00000135100 ENSG00000135100 HGNC:11621 HNF1B gene HNF1B Expert Review Amber Newborns main panel MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Renal Cysts and Diabetes Syndrome False 2 0;0;0 0.508 False ENSG00000108753 ENSG00000275410 HGNC:11630 HOXA11 gene HOXA11 Expert Review Amber Newborns main panel MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Radioulnar synostosis with amegakaryocytic thrombocytopenia 1 False 2 0;0;0 0.508 False Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments ENSG00000005073 ENSG00000005073 HGNC:5101 HSCB gene HSCB Expert Review Amber Newborns main panel BIALLELIC, autosomal or pseudoautosomal Anemia, sideroblastic, 5 False 2 0;0;0 0.508 False ENSG00000100209 ENSG00000100209 HGNC:28913 HSPA9 gene HSPA9 Expert Review Amber Newborns main panel MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Anemia, sideroblastic, 4 False 2 0;0;0 0.508 False ENSG00000113013 ENSG00000113013 HGNC:5244 IARS gene IARS Expert Review Amber Newborns main panel BIALLELIC, autosomal or pseudoautosomal Growth retardation, impaired intellectual development, hypotonia, and hepatopathy False 2 0;0;0 0.508 False ENSG00000196305 ENSG00000196305 HGNC:5330 ICOS gene ICOS Expert Review Amber Newborns main panel BIALLELIC, autosomal or pseudoautosomal Common variable immune deficiency 1 False 2 0;0;0 0.508 False ENSG00000163600 ENSG00000163600 HGNC:5351 IER3IP1 gene IER3IP1 Expert Review Amber Newborns main panel BIALLELIC, autosomal or pseudoautosomal Microcephaly, epilepsy, and diabetes syndrome False 2 0;0;0 0.508 False ENSG00000134049 ENSG00000134049 HGNC:18550 IFIH1 gene IFIH1 Expert Review Amber Newborns main panel MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Aicardi-Goutieres syndrome 7 False 2 0;0;0 0.508 False Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments ENSG00000115267 ENSG00000115267 HGNC:18873 IGFALS gene IGFALS Expert Review Amber Newborns main panel BIALLELIC, autosomal or pseudoautosomal Acid-labile subunit deficiency False 2 0;0;0 0.508 False ENSG00000099769 ENSG00000099769 HGNC:5468 IKBKG gene IKBKG Expert Review Amber Newborns main panel X-LINKED: hemizygous mutation in males, biallelic mutations in females Immunodeficiency 33 False 2 0;0;0 0.508 False ENSG00000073009 ENSG00000269335 HGNC:5961 IKZF1 gene IKZF1 Expert Review Amber Newborns main panel MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Common variable immune deficiency 13 False 2 0;0;0 0.508 False ENSG00000185811 ENSG00000185811 HGNC:13176 IL1RN gene IL1RN Expert Review Amber Newborns main panel BIALLELIC, autosomal or pseudoautosomal Interleukin 1 receptor antagonist deficiency False 2 0;0;0 0.508 False ENSG00000136689 ENSG00000136689 HGNC:6000 IL21 gene IL21 Expert Review Amber Newborns main panel BIALLELIC, autosomal or pseudoautosomal Common variable immune deficiency 11 False 2 0;0;0 0.508 False ENSG00000138684 ENSG00000138684 HGNC:6005 IL21R gene IL21R Expert Review Amber Newborns main panel BIALLELIC, autosomal or pseudoautosomal Immunodeficiency 56 False 2 0;0;0 0.508 False ENSG00000103522 ENSG00000103522 HGNC:6006 IL36RN gene IL36RN Expert Review Amber Newborns main panel BIALLELIC, autosomal or pseudoautosomal pustular psoriasis-14 False 2 0;0;0 0.508 False ENSG00000136695 ENSG00000136695 HGNC:15561 INSR gene INSR Expert Review Amber Newborns main panel MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Hyperinsulinemic hypoglycemia, familial, 5 False 2 0;0;0 0.508 False Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments ENSG00000171105 ENSG00000171105 HGNC:6091 IRF2BP2 gene IRF2BP2 Expert Review Amber Newborns main panel MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Common variable immune deficiency 14 False 2 0;0;0 0.508 False Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments ENSG00000168264 ENSG00000168264 HGNC:21729 JAK1 gene JAK1 Expert Review Amber Newborns main panel MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Autoinflammation, immune dysregulation, and eosinophilia False 2 0;0;0 0.508 False Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments ENSG00000162434 ENSG00000162434 HGNC:6190 KCNA1 gene KCNA1 Expert Review Amber Newborns main panel MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Episodic ataxia/myokymia syndrome False 2 0;0;0 0.508 False ENSG00000111262 ENSG00000111262 HGNC:6218 KCNE1 gene KCNE1 Expert Review Amber Newborns main panel BIALLELIC, autosomal or pseudoautosomal Jervell and Lange-Nielsen syndrome 2 False 2 0;0;0 0.508 False ENSG00000180509 ENSG00000180509 HGNC:6240 KCNH2 gene KCNH2 Expert Review Amber Newborns main panel MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Long QT Syndrome 2 False 2 0;0;0 0.508 False ENSG00000055118 ENSG00000055118 HGNC:6251 KCNJ2 gene KCNJ2 Expert Review Amber Newborns main panel MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Andersen-Tawil syndrome and Catecholaminergic polymorphic ventricular tachycardia False 2 0;0;0 0.508 False ENSG00000123700 ENSG00000123700 HGNC:6263 KCNJ5 gene KCNJ5 Expert Review Amber Newborns main panel MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Hyperaldosteronism, familial, type III False 2 0;0;0 0.508 False Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments ENSG00000120457 ENSG00000120457 HGNC:6266 KCNJ8 gene KCNJ8 Expert Review Amber Newborns main panel MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown KCNJ8 associated hypertrichotic osteochondrodysplasia False 2 0;0;0 0.508 False Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments ENSG00000121361 ENSG00000121361 HGNC:6269 KCNQ1 gene KCNQ1 Expert Review Amber Newborns main panel BIALLELIC, autosomal or pseudoautosomal Jervell and Lange-Nielsen syndrome False 2 0;0;0 0.508 False ENSG00000053918 ENSG00000053918 HGNC:6294 KCNQ2 gene KCNQ2 Expert Review Amber Newborns main panel MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Early infantile epileptic encephalopathy-7 False 2 0;0;0 0.508 False Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments ENSG00000075043 ENSG00000075043 HGNC:6296 KCNT1 gene KCNT1 Expert Review Amber Newborns main panel MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Early infantile epileptic encephalopathy-14 False 2 0;0;0 0.508 False Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments ENSG00000107147 ENSG00000107147 HGNC:18865 KDM1A gene KDM1A Expert Review Amber Newborns main panel MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown KDM1A associated ACTH-independent macronodular adrenal hyperplasia False 2 0;0;0 0.508 False ENSG00000004487 ENSG00000004487 HGNC:29079 KDSR gene KDSR Expert Review Amber Newborns main panel BIALLELIC, autosomal or pseudoautosomal Erythrokeratodermia variabilis et progressiva 4 False 2 0;0;0 0.508 False ENSG00000119537 ENSG00000119537 HGNC:4021 LAMTOR2 gene LAMTOR2 Expert Review Amber Newborns main panel BIALLELIC, autosomal or pseudoautosomal MAPBP-interacting protein associated immunodeficiency False 2 0;0;0 0.508 False ENSG00000116586 ENSG00000116586 HGNC:29796 LARS gene LARS Expert Review Amber Newborns main panel BIALLELIC, autosomal or pseudoautosomal Infantile liver failure syndrome 1 False 2 0;0;0 0.508 False ENSG00000133706 ENSG00000133706 HGNC:6512 LHX4 gene LHX4 Expert Review Amber Newborns main panel MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Pituitary hormone deficiency, combined, 4 False 2 0;0;0 0.508 False ENSG00000121454 ENSG00000121454 HGNC:21734 LMAN1 gene LMAN1 Expert Review Amber Newborns main panel BIALLELIC, autosomal or pseudoautosomal Combined factor V and VIII deficiency False 2 0;0;0 0.508 False ENSG00000074695 ENSG00000074695 HGNC:6631 LMNA gene LMNA Expert Review Amber Newborns main panel MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Hutchinson-Gilford progeria syndrome False 2 0;0;0 0.508 False Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments ENSG00000160789 ENSG00000160789 HGNC:6636 LPIN2 gene LPIN2 Expert Review Amber Newborns main panel BIALLELIC, autosomal or pseudoautosomal Majeed syndrome False 2 0;0;0 0.508 False ENSG00000101577 ENSG00000101577 HGNC:14450 LRBA gene LRBA Expert Review Amber Newborns main panel BIALLELIC, autosomal or pseudoautosomal Immunodeficiency, common variable, 8, with autoimmunity False 2 0;0;0 0.508 False ENSG00000198589 ENSG00000198589 HGNC:1742 LRP4 gene LRP4 Expert Review Amber Newborns main panel BIALLELIC, autosomal or pseudoautosomal Congenital myasthenic syndrome-17 False 2 0;0;0 0.508 False ENSG00000134569 ENSG00000134569 HGNC:6696 LSM11 gene LSM11 Expert Review Amber Newborns main panel BIALLELIC, autosomal or pseudoautosomal Aicardi-Goutieres syndrome 8 False 2 0;0;0 0.508 False ENSG00000155858 ENSG00000155858 HGNC:30860 MAD2L2 gene MAD2L2 Expert Review Amber Newborns main panel BIALLELIC, autosomal or pseudoautosomal Fanconi anemia, complementation group V False 2 0;0;0 0.508 False ENSG00000116670 ENSG00000116670 HGNC:6764 MAGED2 gene MAGED2 Expert Review Amber Newborns main panel X-LINKED: hemizygous mutation in males, biallelic mutations in females Bartter syndrome, type 5, antenatal, transient False 2 0;0;0 0.508 False ENSG00000102316 ENSG00000102316 HGNC:16353 MALT1 gene MALT1 Expert Review Amber Newborns main panel BIALLELIC, autosomal or pseudoautosomal Immunodeficiency 12 False 2 0;0;0 0.508 False ENSG00000172175 ENSG00000172175 HGNC:6819 MAP3K14 gene MAP3K14 Expert Review Amber Newborns main panel BIALLELIC, autosomal or pseudoautosomal MAP3K14 associated immunodeficiency False 2 0;0;0 0.508 False ENSG00000006062 ENSG00000006062 HGNC:6853 MARS gene MARS Expert Review Amber Newborns main panel BIALLELIC, autosomal or pseudoautosomal Interstitial lung and liver disease False 2 0;0;0 0.508 False ENSG00000166986 ENSG00000166986 HGNC:6898 MCCC1 gene MCCC1 Expert Review Amber Newborns main panel BIALLELIC, autosomal or pseudoautosomal 3-Methylcrotonyl-CoA carboxylase 1 deficiency False 2 0;0;0 0.508 False ENSG00000078070 ENSG00000078070 HGNC:6936 MCCC2 gene MCCC2 Expert Review Amber Newborns main panel BIALLELIC, autosomal or pseudoautosomal 3-Methylcrotonyl-CoA carboxylase 2 deficiency False 2 0;0;0 0.508 False ENSG00000131844 ENSG00000131844 HGNC:6937 MCFD2 gene MCFD2 Expert Review Amber Newborns main panel BIALLELIC, autosomal or pseudoautosomal Factor V and factor VIII, combined deficiency of False 2 0;0;0 0.508 False ENSG00000180398 ENSG00000180398 HGNC:18451 MECOM gene MECOM Expert Review Amber Newborns main panel MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Radioulnar synostosis with amegakaryocytic thrombocytopenia 2 False 2 0;0;0 0.508 False ENSG00000085276 ENSG00000085276 HGNC:3498 MEFV gene MEFV Expert Review Amber Newborns main panel BIALLELIC, autosomal or pseudoautosomal Familial Mediterranean fever, Autosomal recessive False 2 0;0;0 0.508 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 MLH1 gene MLH1 Expert Review Amber Newborns main panel BIALLELIC, autosomal or pseudoautosomal Mismatch repair cancer syndrome 1 False 2 0;0;0 0.508 False ENSG00000076242 ENSG00000076242 HGNC:7127 MLYCD gene MLYCD Expert Review Amber Newborns main panel BIALLELIC, autosomal or pseudoautosomal Malonyl-CoA decarboxylase deficiency False 2 0;0;0 0.508 False ENSG00000103150 ENSG00000103150 HGNC:7150 MNX1 gene MNX1 Expert Review Amber Newborns main panel MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Currarino syndrome A syndrome of neonatal diabetes mellitus, developmental delays, sacral agenesis and imperforated anus False 2 0;0;0 0.508 False ENSG00000130675 ENSG00000130675 HGNC:4979 MOCS1 gene MOCS1 Expert Review Amber Newborns main panel BIALLELIC, autosomal or pseudoautosomal Molybdenum cofactor deficiency A False 2 0;0;0 0.508 False ENSG00000124615 ENSG00000124615 HGNC:7190 MS4A1 gene MS4A1 Expert Review Amber Newborns main panel BIALLELIC, autosomal or pseudoautosomal Common variable immune deficiency 5 False 2 0;0;0 0.508 False ENSG00000156738 ENSG00000156738 HGNC:7315 MSH2 gene MSH2 Expert Review Amber Newborns main panel BIALLELIC, autosomal or pseudoautosomal Mismatch repair cancer syndrome 2 False 2 0;0;0 0.508 False ENSG00000095002 ENSG00000095002 HGNC:7325 MSH6 gene MSH6 Expert Review Amber Newborns main panel BIALLELIC, autosomal or pseudoautosomal Mismatch repair cancer syndrome 3 False 2 0;0;0 0.508 False ENSG00000116062 ENSG00000116062 HGNC:7329 MTHFS gene MTHFS Expert Review Amber Newborns main panel BIALLELIC, autosomal or pseudoautosomal Neurodevelopmental disorder with microcephaly, epilepsy, and hypomyelination False 2 0;0;0 0.508 False ENSG00000136371 ENSG00000136371 HGNC:7437 MVK gene MVK Expert Review Amber Newborns main panel BIALLELIC, autosomal or pseudoautosomal Hyper-IgD syndrome / mevalonate kinase deficiciency False 2 0;0;0 0.508 False ENSG00000110921 ENSG00000110921 HGNC:7530 MYO9A gene MYO9A Expert Review Amber Newborns main panel BIALLELIC, autosomal or pseudoautosomal Congenital myasthenic syndrome-24 False 2 0;0;0 0.508 False ENSG00000066933 ENSG00000066933 HGNC:7608 NAGLU gene NAGLU Expert Review Amber Newborns main panel BIALLELIC, autosomal or pseudoautosomal Mucopolysaccharidosis type IIIB (Sanfilippo B) False 2 0;0;0 0.508 False ENSG00000108784 ENSG00000108784 HGNC:7632 NAXD gene NAXD Expert Review Amber Newborns main panel BIALLELIC, autosomal or pseudoautosomal early-onset progressive encephalopathy with brain edema and/or leukoencephalopathy 2 False 2 0;0;0 0.508 False ENSG00000213995 ENSG00000213995 HGNC:25576 NAXE gene NAXE Expert Review Amber Newborns main panel BIALLELIC, autosomal or pseudoautosomal early-onset progressive encephalopathy with brain edema and/or leukoencephalopathy 1 False 2 0;0;0 0.508 False ENSG00000163382 ENSG00000163382 HGNC:18453 NCF1 gene NCF1 Expert Review Amber Newborns main panel BIALLELIC, autosomal or pseudoautosomal Chronic granulomatous disease 1 False 2 0;0;0 0.508 False ENSG00000158517 ENSG00000158517 HGNC:7660 NFKB1 gene NFKB1 Expert Review Amber Newborns main panel MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Common variable immune deficiency 12 False 2 0;0;0 0.508 False ENSG00000109320 ENSG00000109320 HGNC:7794 NFKB2 gene NFKB2 Expert Review Amber Newborns main panel MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Common variable immune deficiency 10 False 2 0;0;0 0.508 False ENSG00000077150 ENSG00000077150 HGNC:7795 NIPAL4 gene NIPAL4 Expert Review Amber Newborns main panel BIALLELIC, autosomal or pseudoautosomal Ichthyosis, congenital, autosomal recessive 6 False 2 0;0;0 0.508 False ENSG00000172548 ENSG00000172548 HGNC:28018 NKX2-1 gene NKX2-1 Expert Review Amber Newborns main panel MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Choreoathetosis, hypothyroidism, and neonatal respiratory distress False 2 0;0;0 0.508 False ENSG00000136352 ENSG00000136352 HGNC:11825 NKX2-2 gene NKX2-2 Expert Review Amber Newborns main panel BIALLELIC, autosomal or pseudoautosomal Neonatal diabetes syndromic - No phenotype in OMIM False 2 0;0;0 0.508 False ENSG00000125820 ENSG00000125820 HGNC:7835 NLRC4 gene NLRC4 Expert Review Amber Newborns main panel MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown NLRC4 associated familial cold inflammatory syndrome False 2 0;0;0 0.508 False Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments ENSG00000091106 ENSG00000091106 HGNC:16412 NLRP12 gene NLRP12 Expert Review Amber Newborns main panel MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Familial cold autoinflammatory syndrome 2 False 2 0;0;0 0.508 False Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments ENSG00000142405 ENSG00000142405 HGNC:22938 NOD2 gene NOD2 Expert Review Amber Newborns main panel MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Blau syndrome False 2 0;0;0 0.508 False ENSG00000167207 ENSG00000167207 HGNC:5331 NPC1 gene NPC1 Expert Review Amber Newborns main panel BIALLELIC, autosomal or pseudoautosomal Niemann-Pick disease, type C, NPC1 False 2 0;0;0 0.508 False ENSG00000141458 ENSG00000141458 HGNC:7897 NPC2 gene NPC2 Expert Review Amber Newborns main panel BIALLELIC, autosomal or pseudoautosomal Niemann-Pick disease, type C, NPC2 False 2 0;0;0 0.508 False ENSG00000119655 ENSG00000119655 HGNC:14537 ORAI1 gene ORAI1 Expert Review Amber Newborns main panel BIALLELIC, autosomal or pseudoautosomal Immunodeficiency 9 False 2 0;0;0 0.508 False ENSG00000182500 ENSG00000276045 HGNC:25896 OTULIN gene OTULIN Expert Review Amber Newborns main panel BIALLELIC, autosomal or pseudoautosomal Autoinflammation, panniculitis, and dermatosis syndrome False 2 0;0;0 0.508 False ENSG00000154124 ENSG00000154124 HGNC:25118 PALB2 gene PALB2 Expert Review Amber Newborns main panel BIALLELIC, autosomal or pseudoautosomal Fanconi anemia, complementation group N False 2 0;0;0 0.508 False ENSG00000083093 ENSG00000083093 HGNC:26144 PAPPA2 gene PAPPA2 Expert Review Amber Newborns main panel BIALLELIC, autosomal or pseudoautosomal PAPPA2 associated short stature False 2 0;0;0 0.508 False ENSG00000116183 ENSG00000116183 HGNC:14615 PCSK9 gene PCSK9 Expert Review Amber Newborns main panel MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Familial hypercholesterolaemia-3 False 2 0;0;0 0.508 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 PDGFRB gene PDGFRB Expert Review Amber Newborns main panel MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown PDGFRB activating spectrum disorder False 2 0;0;0 0.508 False Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments ENSG00000113721 ENSG00000113721 HGNC:8804 PDX1 gene PDX1 Expert Review Amber Newborns main panel BIALLELIC, autosomal or pseudoautosomal Pancreatic agenesis 1 False 2 0;0;0 0.508 False ENSG00000139515 ENSG00000139515 HGNC:6107 PGM3 gene PGM3 Expert Review Amber Newborns main panel BIALLELIC, autosomal or pseudoautosomal Immunodeficiency 23 False 2 0;0;0 0.508 False ENSG00000013375 ENSG00000013375 HGNC:8907 PHGDH gene PHGDH Expert Review Amber Newborns main panel BIALLELIC, autosomal or pseudoautosomal Phosphoglycerate dehydrogenase deficiency False 2 0;0;0 0.508 False ENSG00000092621 ENSG00000092621 HGNC:8923 PHKA1 gene PHKA1 Expert Review Amber Newborns main panel X-LINKED: hemizygous mutation in males, biallelic mutations in females Muscle glycogenosis False 2 0;0;0 0.508 False ENSG00000067177 ENSG00000067177 HGNC:8925 PHKB gene PHKB Expert Review Amber Newborns main panel BIALLELIC, autosomal or pseudoautosomal Phosphorylase kinase deficiency of liver and muscle, autosomal recessive False 2 0;0;0 0.508 False ENSG00000102893 ENSG00000102893 HGNC:8927 PHOX2B gene PHOX2B Expert Review Amber Newborns main panel MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown PHOX2B-related susceptibility to Neuroblastoma and central hypoventilation syndrome False 2 0;0;0 0.508 False ENSG00000109132 ENSG00000109132 HGNC:9143 PIK3CA gene PIK3CA Expert Review Amber Newborns main panel Other PIK3CA related overgrowth spectrum False 2 0;0;0 0.508 False Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments ENSG00000121879 ENSG00000121879 HGNC:8975 PIK3CD gene PIK3CD Expert Review Amber Newborns main panel BIALLELIC, autosomal or pseudoautosomal Immunodeficiency 14B False 2 0;0;0 0.508 False ENSG00000171608 ENSG00000171608 HGNC:8977 PLCG2 gene PLCG2 Expert Review Amber Newborns main panel MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Autoinflammation and PLCG2 associated antibody deficiency and immune dysregulation (APLAID) False 2 0;0;0 0.508 False Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments ENSG00000197943 ENSG00000197943 HGNC:9066 PLG gene PLG Expert Review Amber Newborns main panel BIALLELIC, autosomal or pseudoautosomal Plasminogen deficiency, type I False 2 0;0;0 0.508 False ENSG00000122194 ENSG00000122194 HGNC:9071 PMM2 gene PMM2 Expert Review Amber Newborns main panel BIALLELIC, autosomal or pseudoautosomal Congenital disorder of glycosylation, type Ia False 2 0;0;0 0.508 False ENSG00000140650 ENSG00000140650 HGNC:9115 PMS2 gene PMS2 Expert Review Amber Newborns main panel BIALLELIC, autosomal or pseudoautosomal Mismatch repair cancer syndrome 4 False 2 0;0;0 0.508 False ENSG00000122512 ENSG00000122512 HGNC:9122 POMP gene POMP Expert Review Amber Newborns main panel MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Proteasome-associated autoinflammatory syndrome 2 False 2 0;0;0 0.508 False Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments ENSG00000132963 ENSG00000132963 HGNC:20330 PRDX1 gene PRDX1 Expert Review Amber Newborns main panel BIALLELIC, autosomal or pseudoautosomal Methylmalonic aciduria and homocystinuria, cblC type, digenic False 2 0;0;0 0.508 False Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments ENSG00000117450 ENSG00000117450 HGNC:9352 PRKCD gene PRKCD Expert Review Amber Newborns main panel BIALLELIC, autosomal or pseudoautosomal Autoimmune lymphoproliferative syndrome, type III False 2 0;0;0 0.508 False ENSG00000163932 ENSG00000163932 HGNC:9399 PROKR2 gene PROKR2 Expert Review Amber Newborns main panel MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Hypogonadotropic hypogonadism 3 with or without anosmia, autosomal dominant False 2 0;0;0 0.508 False ENSG00000101292 ENSG00000101292 HGNC:15836 PRPS1 gene PRPS1 Expert Review Amber Newborns main panel X-LINKED: hemizygous mutation in males, biallelic mutations in females Arts syndrome False 2 0;0;0 0.508 False ENSG00000147224 ENSG00000147224 HGNC:9462 PRRT2 gene PRRT2 Expert Review Amber Newborns main panel MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Episodic kinesigenic dyskinesia 1 False 2 0;0;0 0.508 False ENSG00000167371 ENSG00000167371 HGNC:30500 PSAP gene PSAP Expert Review Amber Newborns main panel BIALLELIC, autosomal or pseudoautosomal Metachromatic leukodystrophy due to SAP-b deficiency False 2 0;0;0 0.508 False ENSG00000197746 ENSG00000197746 HGNC:9498 PSAT1 gene PSAT1 Expert Review Amber Newborns main panel BIALLELIC, autosomal or pseudoautosomal Phosphoserine aminotransferase deficiency False 2 0;0;0 0.508 False ENSG00000135069 ENSG00000135069 HGNC:19129 PSMB10 gene PSMB10 Expert Review Amber Newborns main panel BIALLELIC, autosomal or pseudoautosomal Proteasome-associated autoinflammatory syndrome 5 False 2 0;0;0 0.508 False ENSG00000205220 ENSG00000205220 HGNC:9538 PSMB4 gene PSMB4 Expert Review Amber Newborns main panel BIALLELIC, autosomal or pseudoautosomal Proteasome-associated autoinflammatory syndrome 3 False 2 0;0;0 0.508 False ENSG00000159377 ENSG00000159377 HGNC:9541 PSMB8 gene PSMB8 Expert Review Amber Newborns main panel BIALLELIC, autosomal or pseudoautosomal Proteasome-associated autoinflammatory syndrome 1 False 2 0;0;0 0.508 False ENSG00000204264 ENSG00000204264 HGNC:9545 PSMB9 gene PSMB9 Expert Review Amber Newborns main panel MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown PSMB9 associated proteasome-associated autoinflammatory syndrome False 2 0;0;0 0.508 False Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments ENSG00000240065 ENSG00000240065 HGNC:9546 PSMG2 gene PSMG2 Expert Review Amber Newborns main panel BIALLELIC, autosomal or pseudoautosomal Proteasome-associated autoinflammatory syndrome 4 False 2 0;0;0 0.508 False ENSG00000128789 ENSG00000128789 HGNC:24929 PSPH gene PSPH Expert Review Amber Newborns main panel BIALLELIC, autosomal or pseudoautosomal Phosphoserine phosphatase deficiency False 2 0;0;0 0.508 False ENSG00000146733 ENSG00000146733 HGNC:9577 RAC2 gene RAC2 Expert Review Amber Newborns main panel BIALLELIC, autosomal or pseudoautosomal Immunodeficiency 73C False 2 0;0;0 0.508 False ENSG00000128340 ENSG00000128340 HGNC:9802 RAD51 gene RAD51 Expert Review Amber Newborns main panel MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Fanconi anemia, complementation group R False 2 0;0;0 0.508 False Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments ENSG00000051180 ENSG00000051180 HGNC:9817 RAD51C gene RAD51C Expert Review Amber Newborns main panel BIALLELIC, autosomal or pseudoautosomal Fanconi anemia, complementation group O False 2 0;0;0 0.508 False ENSG00000108384 ENSG00000108384 HGNC:9820 REL gene REL Expert Review Amber Newborns main panel BIALLELIC, autosomal or pseudoautosomal Immunodeficiency 92 False 2 0;0;0 0.508 False ENSG00000162924 ENSG00000162924 HGNC:9954 RELA gene RELA Expert Review Amber Newborns main panel MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown RELA associated chronic mucocutaneous ulceration False 2 0;0;0 0.508 False ENSG00000173039 ENSG00000173039 HGNC:9955 RELB gene RELB Expert Review Amber Newborns main panel BIALLELIC, autosomal or pseudoautosomal Immunodeficiency 53 False 2 0;0;0 0.508 False ENSG00000104856 ENSG00000104856 HGNC:9956 RFWD3 gene RFWD3 Expert Review Amber Newborns main panel BIALLELIC, autosomal or pseudoautosomal Fanconi anemia, complementation group W False 2 0;0;0 0.508 False ENSG00000168411 ENSG00000168411 HGNC:25539 RFX6 gene RFX6 Expert Review Amber Newborns main panel BIALLELIC, autosomal or pseudoautosomal Mitchell-Riley Syndrome/neonatal diabetes with pancreatic hypoplasia, intestinal atresia and gallbladder hypoplasia or aplasia False 2 0;0;0 0.508 False ENSG00000185002 ENSG00000185002 HGNC:21478 RMRP gene RMRP Expert Review Amber Newborns main panel BIALLELIC, autosomal or pseudoautosomal Cartilege Hair Hypoplasia False 2 0;0;0 0.508 False ENSG00000269900 ENSG00000269900 HGNC:10031 RNASEH2A gene RNASEH2A Expert Review Amber Newborns main panel BIALLELIC, autosomal or pseudoautosomal Aicardi-Goutieres syndrome 4 False 2 0;0;0 0.508 False ENSG00000104889 ENSG00000104889 HGNC:18518 RNASEH2B gene RNASEH2B Expert Review Amber Newborns main panel BIALLELIC, autosomal or pseudoautosomal Aicardi-Goutieres syndrome 2 False 2 0;0;0 0.508 False ENSG00000136104 ENSG00000136104 HGNC:25671 RNASEH2C gene RNASEH2C Expert Review Amber Newborns main panel BIALLELIC, autosomal or pseudoautosomal Aicardi-Goutieres syndrome 3 False 2 0;0;0 0.508 False ENSG00000172922 ENSG00000172922 HGNC:24116 RNU7-1 gene RNU7-1 Expert Review Amber Newborns main panel BIALLELIC, autosomal or pseudoautosomal Aicardi-Goutieres syndrome 9 False 2 0;0;0 0.508 False ENSG00000238923 ENSG00000238923 HGNC:34033 RPL18 gene RPL18 Expert Review Amber Newborns main panel MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Diamond-Blackfan anaemia 18 False 2 0;0;0 0.508 False ENSG00000063177 ENSG00000063177 HGNC:10310 RPL27 gene RPL27 Expert Review Amber Newborns main panel MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Diamond-Blackfan anaemia 16 False 2 0;0;0 0.508 False ENSG00000131469 ENSG00000131469 HGNC:10328 RPL31 gene RPL31 Expert Review Amber Newborns main panel MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown RPL31 associated Diamond-Blackfan anaemia False 2 0;0;0 0.508 False ENSG00000071082 ENSG00000071082 HGNC:10334 RPL35 gene RPL35 Expert Review Amber Newborns main panel MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Diamond-Blackfan anaemia 19 False 2 0;0;0 0.508 False ENSG00000136942 ENSG00000136942 HGNC:10344 RPS15A gene RPS15A Expert Review Amber Newborns main panel MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Diamond-Blackfan anaemia 20 False 2 0;0;0 0.508 False ENSG00000134419 ENSG00000134419 HGNC:10389 RPS27 gene RPS27 Expert Review Amber Newborns main panel MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Diamond-Blackfan anaemia 17 False 2 0;0;0 0.508 False ENSG00000177954 ENSG00000177954 HGNC:10416 RPS28 gene RPS28 Expert Review Amber Newborns main panel MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Diamond Blackfan anaemia 15 with mandibulofacial dysostosis False 2 0;0;0 0.508 False ENSG00000233927 ENSG00000233927 HGNC:10418 RPS9 gene RPS9 Expert Review Amber Newborns main panel MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown RPS9 associated Diamond-Blackfan anaemia False 2 0;0;0 0.508 False ENSG00000170889 ENSG00000170889 HGNC:10442 RYR2 gene RYR2 Expert Review Amber Newborns main panel MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown catecholaminergic polymorphic ventricular tachycardia 1 False 2 0;0;0 0.508 False Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments ENSG00000198626 ENSG00000198626 HGNC:10484 SAMD9L gene SAMD9L Expert Review Amber Newborns main panel MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Ataxia pancytopaenia syndrome False 2 0;0;0 0.508 False Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments ENSG00000177409 ENSG00000177409 HGNC:1349 SAMHD1 gene SAMHD1 Expert Review Amber Newborns main panel BIALLELIC, autosomal or pseudoautosomal Aicardi-Goutieres syndrome 5 False 2 0;0;0 0.508 False ENSG00000101347 ENSG00000101347 HGNC:15925 SARS gene SARS Expert Review Amber Newborns main panel BIALLELIC, autosomal or pseudoautosomal Neurodevelopmental disorder with microcephaly, ataxia, and seizures False 2 0;0;0 0.508 False ENSG00000031698 ENSG00000031698 HGNC:10537 SCN1A gene SCN1A Expert Review Amber Newborns main panel MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Early infantile epileptic encephalopathy-6 False 2 0;0;0 0.508 False Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments ENSG00000144285 ENSG00000144285 HGNC:10585 SCN2A gene SCN2A Expert Review Amber Newborns main panel MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Early infantile epileptic encephalopathy-11 False 2 0;0;0 0.508 False Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments ENSG00000136531 ENSG00000136531 HGNC:10588 SCN3A gene SCN3A Expert Review Amber Newborns main panel MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Epilepsy, familial focal, with variable foci 4 False 2 0;0;0 0.508 False ENSG00000153253 ENSG00000153253 HGNC:10590 SCN5A gene SCN5A Expert Review Amber Newborns main panel MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Long QT Syndrome 3 False 2 0;0;0 0.508 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 SCN8A gene SCN8A Expert Review Amber Newborns main panel MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Early infantile epileptic encephalopathy-13 False 2 0;0;0 0.508 False Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments ENSG00000196876 ENSG00000196876 HGNC:10596 SERPINA1 gene SERPINA1 Expert Review Amber Newborns main panel BIALLELIC, autosomal or pseudoautosomal Alpha-1-antitrypsin deficiency False 2 0;0;0 0.508 False ENSG00000197249 ENSG00000197249 HGNC:8941 SERPING1 gene SERPING1 Expert Review Amber Newborns main panel BIALLELIC, autosomal or pseudoautosomal Hereditary angioedema, autosomal recessive False 2 0;0;0 0.508 False ENSG00000149131 ENSG00000149131 HGNC:1228 SFTPC gene SFTPC Expert Review Amber Newborns main panel MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Surfactant metabolism dysfunction, pulmonary, 2 False 2 0;0;0 0.508 False Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments ENSG00000168484 ENSG00000168484 HGNC:10802 SLC13A5 gene SLC13A5 Expert Review Amber Newborns main panel BIALLELIC, autosomal or pseudoautosomal Early infantile epileptic encephalopathy-25 False 2 0;0;0 0.508 False ENSG00000141485 ENSG00000141485 HGNC:23089 SLC16A1 gene SLC16A1 Expert Review Amber Newborns main panel MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Familial hyperinsulinemic hypoglycemia-7 False 2 0;0;0 0.508 False Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments ENSG00000155380 ENSG00000155380 HGNC:10922 SLC16A2 gene SLC16A2 Expert Review Amber Newborns main panel X-LINKED: hemizygous mutation in males, biallelic mutations in females Allan-Herndon-Dudley syndrome False 2 0;0;0 0.508 False ENSG00000147100 ENSG00000147100 HGNC:10923 SLC18A2 gene SLC18A2 Expert Review Amber Newborns main panel BIALLELIC, autosomal or pseudoautosomal Infantile parkinsonism-dystonia-2 False 2 0;0;0 0.508 False ENSG00000165646 ENSG00000165646 HGNC:10935 SLC1A3 gene SLC1A3 Expert Review Amber Newborns main panel MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Episodic ataxia, type 6 False 2 0;0;0 0.508 False ENSG00000079215 ENSG00000079215 HGNC:10941 SLC25A38 gene SLC25A38 Expert Review Amber Newborns main panel BIALLELIC, autosomal or pseudoautosomal Anemia, sideroblastic, 2, pyridoxine-refractory False 2 0;0;0 0.508 False ENSG00000144659 ENSG00000144659 HGNC:26054 SLC26A3 gene SLC26A3 Expert Review Amber Newborns main panel BIALLELIC, autosomal or pseudoautosomal Diarrhoea 1, secretory chloride, congenital False 2 0;0;0 0.508 False ENSG00000091138 ENSG00000091138 HGNC:3018 SLC26A4 gene SLC26A4 Expert Review Amber Newborns main panel BIALLELIC, autosomal or pseudoautosomal Pendred Syndrome False 2 0;0;0 0.508 False ENSG00000091137 ENSG00000091137 HGNC:8818 SLC2A2 gene SLC2A2 Expert Review Amber Newborns main panel BIALLELIC, autosomal or pseudoautosomal Fanconi-Bickel syndrome False 2 0;0;0 0.508 False ENSG00000163581 ENSG00000163581 HGNC:11006 SLC35A2 gene SLC35A2 Expert Review Amber Newborns main panel X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Congenital disorder of glycosylation, type IIm False 2 0;0;0 0.508 False ENSG00000102100 ENSG00000102100 HGNC:11022 SLC35C1 gene SLC35C1 Expert Review Amber Newborns main panel BIALLELIC, autosomal or pseudoautosomal Congenital disorder of glycosylation, type IIc False 2 0;0;0 0.508 False ENSG00000181830 ENSG00000181830 HGNC:20197 SLC39A14 gene SLC39A14 Expert Review Amber Newborns main panel BIALLELIC, autosomal or pseudoautosomal Hypermanganesemia with dystonia 2 False 2 0;0;0 0.508 False ENSG00000104635 ENSG00000104635 HGNC:20858 SLC39A8 gene SLC39A8 Expert Review Amber Newborns main panel BIALLELIC, autosomal or pseudoautosomal Congenital disorder of glycosylation, type IIn False 2 0;0;0 0.508 False ENSG00000138821 ENSG00000138821 HGNC:20862 SLC40A1 gene SLC40A1 Expert Review Amber Newborns main panel MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Hemochromatosis, type 4 False 2 0;0;0 0.508 False Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments ENSG00000138449 ENSG00000138449 HGNC:10909 SLC4A4 gene SLC4A4 Expert Review Amber Newborns main panel BIALLELIC, autosomal or pseudoautosomal Renal tubular acidosis, proximal, with ocular abnormalities False 2 0;0;0 0.508 False ENSG00000080493 ENSG00000080493 HGNC:11030 SLC5A6 gene SLC5A6 Expert Review Amber Newborns main panel BIALLELIC, autosomal or pseudoautosomal Sodium-dependent multivitamin transporter deficiency False 2 0;0;0 0.508 False ENSG00000138074 ENSG00000138074 HGNC:11041 SLC6A5 gene SLC6A5 Expert Review Amber Newborns main panel BIALLELIC, autosomal or pseudoautosomal Hyperekplexia 3 autosomal recessive False 2 0;0;0 0.508 False ENSG00000165970 ENSG00000165970 HGNC:11051 SLC6A6 gene SLC6A6 Expert Review Amber Newborns main panel BIALLELIC, autosomal or pseudoautosomal Hypotaurinemic retinal degeneration and cardiomyopathy False 2 0;0;0 0.508 False ENSG00000131389 ENSG00000131389 HGNC:11052 SLC6A8 gene SLC6A8 Expert Review Amber Newborns main panel X-LINKED: hemizygous mutation in males, biallelic mutations in females Cerebral creatine deficiency syndrome 1 False 2 0;0;0 0.508 False ENSG00000130821 ENSG00000130821 HGNC:11055 SLC9A3 gene SLC9A3 Expert Review Amber Newborns main panel BIALLELIC, autosomal or pseudoautosomal Diarrhoea 8, secretory sodium, congenital False 2 0;0;0 0.508 False ENSG00000066230 ENSG00000066230 HGNC:11073 SLX4 gene SLX4 Expert Review Amber Newborns main panel BIALLELIC, autosomal or pseudoautosomal Fanconi anemia, complementation group P False 2 0;0;0 0.508 False ENSG00000188827 ENSG00000188827 HGNC:23845 SMARCA4 gene SMARCA4 Expert Review Amber Newborns main panel MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Rhabdoid tumour predisposition syndrome False 2 0;0;0 0.508 False ENSG00000127616 ENSG00000127616 HGNC:11100 SMARCB1 gene SMARCB1 Expert Review Amber Newborns main panel MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Rhabdoid tumour predisposition syndrome False 2 0;0;0 0.508 False ENSG00000099956 ENSG00000099956 HGNC:11103 SMPD1 gene SMPD1 Expert Review Amber Newborns main panel BIALLELIC, autosomal or pseudoautosomal Niemann-Pick disease, type A and type B False 2 0;0;0 0.508 False ENSG00000166311 ENSG00000166311 HGNC:11120 SNAP25 gene SNAP25 Expert Review Amber Newborns main panel MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Congenital myasthenic syndrome-18 False 2 0;0;0 0.508 False Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments ENSG00000132639 ENSG00000132639 HGNC:11132 SORD gene SORD Expert Review Amber Newborns main panel BIALLELIC, autosomal or pseudoautosomal Sorbitol dehydrogenase deficiency with peripheral neuropathy False 2 0;0;0 0.508 False ENSG00000140263 ENSG00000140263 HGNC:11184 SOX3 gene SOX3 Expert Review Amber Newborns main panel X-LINKED: hemizygous mutation in males, biallelic mutations in females Panhypopituitarism, X-linked False 2 0;0;0 0.508 False ENSG00000134595 ENSG00000134595 HGNC:11199 SPINT2 gene SPINT2 Expert Review Amber Newborns main panel BIALLELIC, autosomal or pseudoautosomal Diarrhoea 3, secretory sodium, congenital, syndromic False 2 0;0;0 0.508 False ENSG00000167642 ENSG00000167642 HGNC:11247 SPR gene SPR Expert Review Amber Newborns main panel BIALLELIC, autosomal or pseudoautosomal Dopa-responsive dystonia due to sepiapterin reductase deficiency False 2 0;0;0 0.508 False ENSG00000116096 ENSG00000116096 HGNC:11257 SPTLC1 gene SPTLC1 Expert Review Amber Newborns main panel MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Neuropathy, hereditary sensory and autonomic, type IA False 2 0;0;0 0.508 False Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments ENSG00000090054 ENSG00000090054 HGNC:11277 SPTLC2 gene SPTLC2 Expert Review Amber Newborns main panel MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Neuropathy, hereditary sensory and autonomic, type IC False 2 0;0;0 0.508 False ENSG00000100596 ENSG00000100596 HGNC:11278 STIM1 gene STIM1 Expert Review Amber Newborns main panel BIALLELIC, autosomal or pseudoautosomal Immunodeficiency 10 False 2 0;0;0 0.508 False ENSG00000167323 ENSG00000167323 HGNC:11386 STX16 gene STX16 Expert Review Amber Newborns main panel MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Pseudohypoparathyroidism, type IB False 2 0;0;0 0.508 False Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments ENSG00000124222 ENSG00000124222 HGNC:11431 TECRL gene TECRL Expert Review Amber Newborns main panel BIALLELIC, autosomal or pseudoautosomal Ventricular tachycardia, catecholaminergic polymorphic, 3 False 2 0;0;0 0.508 False ENSG00000205678 ENSG00000205678 HGNC:27365 TFR2 gene TFR2 Expert Review Amber Newborns main panel BIALLELIC, autosomal or pseudoautosomal Hemochromatosis, type 3 False 2 0;0;0 0.508 False ENSG00000106327 ENSG00000106327 HGNC:11762 THAP11 gene THAP11 Expert Review Amber Newborns main panel BIALLELIC, autosomal or pseudoautosomal No OMIM phenotype False 2 0;0;0 0.508 False ENSG00000168286 ENSG00000168286 HGNC:23194 THBD gene THBD Expert Review Amber Newborns main panel MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Hemolytic uremic syndrome, atypical, susceptibility to, 6 False 2 0;0;0 0.508 False ENSG00000178726 ENSG00000178726 HGNC:11784 TK2 gene TK2 Expert Review Amber Newborns main panel BIALLELIC, autosomal or pseudoautosomal Thymidine kinase deficiency False 2 0;0;0 0.508 False ENSG00000166548 ENSG00000166548 HGNC:11831 TMEM165 gene TMEM165 Expert Review Amber Newborns main panel BIALLELIC, autosomal or pseudoautosomal Congenital disorder of glycosylation, type IIk False 2 0;0;0 0.508 False ENSG00000134851 ENSG00000134851 HGNC:30760 TNFAIP3 gene TNFAIP3 Expert Review Amber Newborns main panel MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Familial Behcet-like autoinflammatory syndrome-1 False 2 0;0;0 0.508 False ENSG00000118503 ENSG00000118503 HGNC:11896 TNFRSF13C gene TNFRSF13C Expert Review Amber Newborns main panel BIALLELIC, autosomal or pseudoautosomal Common variable immune deficiency 4 False 2 0;0;0 0.508 False ENSG00000159958 ENSG00000159958 HGNC:17755 TNFRSF1A gene TNFRSF1A Expert Review Amber Newborns main panel MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Tumor necrosis factor receptor associated periodic fever syndrome False 2 0;0;0 0.508 False Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments ENSG00000067182 ENSG00000067182 HGNC:11916 TOP2B gene TOP2B Expert Review Amber Newborns main panel MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown B-cell immunodeficiency, distal limb anomalies, and urogenital malformations False 2 0;0;0 0.508 False Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments ENSG00000077097 ENSG00000077097 HGNC:11990 TP53 gene TP53 Expert Review Amber Newborns main panel MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Li Fraumeni False 2 0;0;0 0.508 False ENSG00000141510 ENSG00000141510 HGNC:11998 TPP1 gene TPP1 Expert Review Amber Newborns main panel BIALLELIC, autosomal or pseudoautosomal Ceroid lipofuscinosis, neuronal, 2 False 2 0;0;0 0.508 False ENSG00000166340 ENSG00000166340 HGNC:2073 TRDN gene TRDN Expert Review Amber Newborns main panel BIALLELIC, autosomal or pseudoautosomal Cardiac arrhythmia syndrome, with or without skeletal muscle weakness False 2 0;0;0 0.508 False ENSG00000186439 ENSG00000186439 HGNC:12261 TREX1 gene TREX1 Expert Review Amber Newborns main panel BIALLELIC, autosomal or pseudoautosomal Aicardi-Goutieres syndrome 1, autosomal recessive False 2 0;0;0 0.508 False ENSG00000213689 ENSG00000213689 HGNC:12269 TRMU gene TRMU Expert Review Amber Newborns main panel BIALLELIC, autosomal or pseudoautosomal Liver failure, transient infantile False 2 0;0;0 0.508 False ENSG00000100416 ENSG00000100416 HGNC:25481 TRNT1 gene TRNT1 Expert Review Amber Newborns main panel BIALLELIC, autosomal or pseudoautosomal TRNT1 associated hypogammaglobulinemia False 2 0;0;0 0.508 False ENSG00000072756 ENSG00000072756 HGNC:17341 TSC1 gene TSC1 Expert Review Amber Newborns main panel MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Tuberous sclerosis-1 False 2 0;0;0 0.508 False ENSG00000165699 ENSG00000165699 HGNC:12362 TSC2 gene TSC2 Expert Review Amber Newborns main panel MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Tuberous sclerosis-2 False 2 0;0;0 0.508 False ENSG00000103197 ENSG00000103197 HGNC:12363 TSR2 gene TSR2 Expert Review Amber Newborns main panel X-LINKED: hemizygous mutation in males, biallelic mutations in females Diamond-Blackfan anemia 14 with mandibulofacial dysostosis False 2 0;0;0 0.508 False ENSG00000158526 ENSG00000158526 HGNC:25455 TTR gene TTR Expert Review Amber Newborns main panel MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Transthyretin associated hereditary amyloidosis False 2 0;0;0 0.508 False Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments ENSG00000118271 ENSG00000118271 HGNC:12405 TXNRD2 gene TXNRD2 Expert Review Amber Newborns main panel BIALLELIC, autosomal or pseudoautosomal Glucocorticoid deficiency 5 False 2 0;0;0 0.508 False ENSG00000184470 ENSG00000184470 HGNC:18155 UBE2T gene UBE2T Expert Review Amber Newborns main panel BIALLELIC, autosomal or pseudoautosomal Fanconi anemia, complementation group T False 2 0;0;0 0.508 False ENSG00000077152 ENSG00000077152 HGNC:25009 USP18 gene USP18 Expert Review Amber Newborns main panel BIALLELIC, autosomal or pseudoautosomal Pseudo-TORCH syndrome 2 False 2 0;0;0 0.508 False ENSG00000184979 ENSG00000184979 HGNC:12616 VKORC1 gene VKORC1 Expert Review Amber Newborns main panel BIALLELIC, autosomal or pseudoautosomal Vitamin K-dependent clotting factors, combined deficiency of, 2 False 2 0;0;0 0.508 False ENSG00000167397 ENSG00000167397 HGNC:23663 WDR1 gene WDR1 Expert Review Amber Newborns main panel BIALLELIC, autosomal or pseudoautosomal Periodic fever, immunodeficiency, and thrombocytopenia syndrome False 2 0;0;0 0.508 False ENSG00000071127 ENSG00000071127 HGNC:12754 WIPF1 gene WIPF1 Expert Review Amber Newborns main panel BIALLELIC, autosomal or pseudoautosomal Wiskott-Aldrich syndrome 2 False 2 0;0;0 0.508 False ENSG00000115935 ENSG00000115935 HGNC:12736 WNK4 gene WNK4 Expert Review Amber Newborns main panel MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Pseudohypoaldosteronism, type IIB False 2 0;0;0 0.508 False Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments ENSG00000126562 ENSG00000126562 HGNC:14544 XRCC2 gene XRCC2 Expert Review Amber Newborns main panel BIALLELIC, autosomal or pseudoautosomal Fanconi anemia, complementation group U False 2 0;0;0 0.508 False ENSG00000196584 ENSG00000196584 HGNC:12829 ZFP57 gene ZFP57 Expert Review Amber Newborns main panel BIALLELIC, autosomal or pseudoautosomal Autosomal recessive diabetes mellitus, transient neonatal 1 False 2 0;0;0 0.508 False ENSG00000204644 ENSG00000204644 HGNC:18791 ZNF143 gene ZNF143 Expert Review Amber Newborns main panel BIALLELIC, autosomal or pseudoautosomal No OMIM phenotype False 2 0;0;0 0.508 False ENSG00000166478 ENSG00000166478 HGNC:12928 AP2S1 gene AP2S1 Expert Review Red Newborns main panel MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown familial hypocalciuric hypercalcemia type III False 1 0;0;0 0.508 False Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments ENSG00000042753 ENSG00000042753 HGNC:565 APC gene APC Expert Review Red Newborns main panel MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Adenomatous polyposis coli False 1 0;0;0 0.508 False ENSG00000134982 ENSG00000134982 HGNC:583 BMPR1A gene BMPR1A Expert Review Red Newborns main panel MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Polyposis, juvenile intestinal False 1 0;0;0 0.508 False ENSG00000107779 ENSG00000107779 HGNC:1076 CHD7 gene CHD7 Expert Review Red Newborns main panel MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown CHARGE syndrome False 1 0;0;0 0.508 False ENSG00000171316 ENSG00000171316 HGNC:20626 GNA11 gene GNA11 Expert Review Red Newborns main panel MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Hypocalcemia, autosomal dominant 2 False 1 0;0;0 0.508 False Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments ENSG00000088256 ENSG00000088256 HGNC:4379 HFE gene HFE Expert Review Red Newborns main panel BIALLELIC, autosomal or pseudoautosomal Hemochromatosis False 1 0;0;0 0.508 False ENSG00000010704 ENSG00000010704 HGNC:4886 HNF4A gene HNF4A Expert Review Red Newborns main panel MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown HNF4A associated hyperinsulinism False 1 0;0;0 0.508 False ENSG00000101076 ENSG00000101076 HGNC:5024 KL gene KL Expert Review Red Newborns main panel BIALLELIC, autosomal or pseudoautosomal Tumoral calcinosis, hyperphosphatemic, familial, 3 False 1 0;0;0 0.508 False ENSG00000133116 ENSG00000133116 HGNC:6344 KLF11 gene KLF11 Expert Review Red Newborns main panel MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Maturity-onset diabetes of the young, type VII False 1 0;0;0 0.508 False Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments ENSG00000172059 ENSG00000172059 HGNC:11811 MUTYH gene MUTYH Expert Review Red Newborns main panel BIALLELIC, autosomal or pseudoautosomal Adenomas, multiple colorectal False 1 0;0;0 0.508 False ENSG00000132781 ENSG00000132781 HGNC:7527 NF1 gene NF1 Expert Review Red Newborns main panel MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Neurofibromatosis type 1 False 1 0;0;0 0.508 False ENSG00000196712 ENSG00000196712 HGNC:7765 PKD1 gene PKD1 Expert Review Red Newborns main panel MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Polycystic kidney disease 1 False 1 0;0;0 0.508 False ENSG00000008710 ENSG00000008710 HGNC:9008 PKD2 gene PKD2 Expert Review Red Newborns main panel MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Polycystic kidney disease 2 False 1 0;0;0 0.508 False ENSG00000118762 ENSG00000118762 HGNC:9009 SCARB2 gene SCARB2 Expert Review Red Newborns main panel BIALLELIC, autosomal or pseudoautosomal progressive myoclonic epilepsy 4 False 1 0;0;0 0.508 False ENSG00000138760 ENSG00000138760 HGNC:1665 SLC12A3 gene SLC12A3 Expert Review Red Newborns main panel BIALLELIC, autosomal or pseudoautosomal Gitelman syndrome False 1 0;0;0 0.508 False ENSG00000070915 ENSG00000070915 HGNC:10912 SLC30A2 gene SLC30A2 Expert Review Red Newborns main panel MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Transient neonatal zinc deficiency False 1 0;0;0 0.508 False ENSG00000158014 ENSG00000158014 HGNC:11013 SMAD4 gene SMAD4 Expert Review Red Newborns main panel MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Polyposis, juvenile intestinal False 1 0;0;0 0.508 False ENSG00000141646 ENSG00000141646 HGNC:6770 TNFRSF13B gene TNFRSF13B Expert Review Red Newborns main panel BIALLELIC, autosomal or pseudoautosomal Common variable immune deficiency 2, autosomal recessive False 1 0;0;0 0.508 False ENSG00000240505 ENSG00000240505 HGNC:18153 UCP2 gene UCP2 Expert Review Red Newborns main panel MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown UCP2 associated hyperinsulinism False 1 0;0;0 0.508 False ENSG00000175567 ENSG00000175567 HGNC:12518 WDR72 gene WDR72 Expert Review Red Newborns main panel BIALLELIC, autosomal or pseudoautosomal WDR72 associated distal renal tubular acidosis False 1 0;0;0 0.508 False ENSG00000166415 ENSG00000166415 HGNC:26790 WFS1 gene WFS1 Expert Review Red Newborns main panel BIALLELIC, autosomal or pseudoautosomal Wolfram Syndrome 1 False 1 0;0;0 0.508 False ENSG00000109501 ENSG00000109501 HGNC:12762