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 BabySeq Category A gene;Expert Review Green BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal Achalasia-addisonianism-alacrimia syndrome, MIM#231550 29255950 False 3 100;0;0 1.116 True ENSG00000094914 ENSG00000094914 HGNC:13666 ABCC6 gene ABCC6 BabySeq Category A gene;BeginNGS;Expert Review Green BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal Arterial calcification, generalized, of infancy, 2, #MIM614473 33005041;34355424 False 3 100;0;0 1.116 True ENSG00000091262 ENSG00000091262 HGNC:57 ABCC8 gene ABCC8 BabySeq Category A gene;BeginNGS;Expert Review Green BabyScreen+ newborn screening Screening BOTH monoallelic and biallelic, autosomal or pseudoautosomal Hyperinsulinemic hypoglycemia, familial, MIM#256450 False 3 100;0;0 1.116 True ENSG00000006071 ENSG00000006071 HGNC:59 ABCD1 gene ABCD1 BabySeq Category A gene;Expert Review Green BabyScreen+ newborn screening Screening X-LINKED: hemizygous mutation in males, biallelic mutations in females Adrenoleukodystrophy, MIM# 300100 False 3 100;0;0 1.116 True ENSG00000101986 ENSG00000101986 HGNC:61 ABCD4 gene ABCD4 BabySeq Category C gene;BeginNGS;Expert Review Green BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal Methylmalonic aciduria and homocystinuria, cblJ type MIM#614857 22922874;30651581;28572511;31113616;33729671 False 3 100;0;0 1.116 True ENSG00000119688 ENSG00000119688 HGNC:68 ABCG5 gene ABCG5 BabySeq Category A gene;Expert Review Green BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal Sitosterolaemia 2, MIM# 618666 False 3 100;0;0 1.116 True ENSG00000138075 ENSG00000138075 HGNC:13886 ACAD9 gene ACAD9 BabySeq Category A gene;BeginNGS;Expert Review Green BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex I deficiency, nuclear type 20, MIM#611126 False 3 100;0;0 1.116 True ENSG00000177646 ENSG00000177646 HGNC:21497 ACADM gene ACADM BabySeq Category A gene;BeginNGS;Expert Review Green BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal Medium chain acyl CoA dehydrogenase deficiency, MIM#201450 False 3 100;0;0 1.116 True ENSG00000117054 ENSG00000117054 HGNC:89 ACADVL gene ACADVL BabySeq Category A gene;BeginNGS;Expert Review Green BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal VLCAD deficiency, MIM#201475 31372341;32885845 False 3 100;0;0 1.116 True ENSG00000072778 ENSG00000072778 HGNC:92 ACAT1 gene ACAT1 BabySeq Category A gene;BeginNGS;Expert Review Green BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal Alpha-methylacetoacetic aciduria, MIM#203750 False 3 100;0;0 1.116 True ENSG00000075239 ENSG00000075239 HGNC:93 ACTA2 gene ACTA2 BabySeq Category B gene;Expert Review Green BabyScreen+ newborn screening Screening BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal Aortic aneurysm, familial thoracic 6, MIM# 611788 False 3 100;0;0 1.116 True ENSG00000107796 ENSG00000107796 HGNC:130 ACVRL1 gene ACVRL1 BabySeq Category A gene;BeginNGS;Expert Review Green BabyScreen+ newborn screening Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Telangiectasia, hereditary hemorrhagic, type 2, MIM#600376 32894695 False 3 100;0;0 1.116 True ENSG00000139567 ENSG00000139567 HGNC:175 ADA gene ADA BabySeq Category A gene;BeginNGS;Expert Review Green BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal Severe combined immunodeficiency due to ADA deficiency, MIM# 102700, MONDO:0007064 33974366 False 3 100;0;0 1.116 True ENSG00000196839 ENSG00000196839 HGNC:186 ADA2 gene ADA2 Expert Review Green;Literature BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal Vasculitis, autoinflammation, immunodeficiency, and haematologic defects syndrome, MIM# 615688 False 3 100;0;0 1.116 True ENSG00000093072 ENSG00000093072 HGNC:1839 ADAMTS13 gene ADAMTS13 BabySeq Category A gene;BeginNGS;Expert Review Green BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal Thrombotic thrombocytopenic purpura, familial, MIM#274150 31759790 False 3 100;0;0 1.116 True ENSG00000160323 ENSG00000160323 HGNC:1366 ADGRV1 gene ADGRV1 Expert list;Expert Review Green BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal Usher syndrome, type 2C, MIM# 605472 False 3 100;0;0 1.116 True ENSG00000164199 ENSG00000164199 HGNC:17416 AGL gene AGL BabySeq Category A gene;BeginNGS;Expert Review Green BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal Glycogen storage disease IIIa, MIM#232400 20631546;27106217 False 3 100;0;0 1.116 True ENSG00000162688 ENSG00000162688 HGNC:321 AGRN gene AGRN BabySeq Category A gene;BeginNGS;Expert Review Green BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal Myasthenic syndrome, congenital, 8, with pre- and postsynaptic defects, MIM# 615120 False 3 100;0;0 1.116 True ENSG00000188157 ENSG00000188157 HGNC:329 AGXT gene AGXT BabySeq Category A gene;Expert Review Green BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal Hyperoxaluria, primary, type 1, MIM# 259900, MONDO:0009823 33789010 False 3 100;0;0 1.116 True ENSG00000172482 ENSG00000172482 HGNC:341 AHCY gene AHCY BeginNGS;Expert Review Green BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal "Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase, MIM# 613752" False 3 67;0;33 1.116 True ENSG00000101444 ENSG00000101444 HGNC:343 AICDA gene AICDA Expert Review;Expert Review Green BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal "Immunodeficiency with hyper-IgM, type 2, MIM# 605258" False 3 100;0;0 1.116 True ENSG00000111732 ENSG00000111732 HGNC:13203 AIRE gene AIRE BabySeq Category A gene;Expert Review Green BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal Autoimmune polyendocrinopathy syndrome , type I, with or without reversible metaphyseal dysplasia, MIM#240300 False 3 100;0;0 1.116 True ENSG00000160224 ENSG00000160224 HGNC:360 AK2 gene AK2 BeginNGS;Expert Review Green BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal Reticular dysgenesis, MIM# 267500;MONDO:0009973 19043416;19043417 False 3 100;0;0 1.116 True ENSG00000004455 ENSG00000004455 HGNC:362 AKR1D1 gene AKR1D1 BabySeq Category A gene;Expert Review Green BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal Bile acid synthesis defect, congenital, 2 False 3 100;0;0 1.116 True ENSG00000122787 ENSG00000122787 HGNC:388 ALDH4A1 gene ALDH4A1 BabySeq Category C gene;Expert Review Green BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal Hyperprolinemia, type II MIM#239510 31884946;34037900;30930802;34302426 False 3 100;0;0 1.116 True ENSG00000159423 ENSG00000159423 HGNC:406 ALDH7A1 gene ALDH7A1 BeginNGS;Expert list;Expert Review Green BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal "Epilepsy, pyridoxine-dependent, MIM# 266100" 33200442 False 3 100;0;0 1.116 True ENSG00000164904 ENSG00000164904 HGNC:877 ALDOB gene ALDOB BabySeq Category A gene;BeginNGS;Expert Review Green BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal Fructose intolerance, hereditary, MIM# 229600 False 3 100;0;0 1.116 True ENSG00000136872 ENSG00000136872 HGNC:417 ALPL gene ALPL BabySeq Category A gene;BeginNGS;Expert Review Green BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal Hypophosphatasia, childhood OMIM#241510;Hypophosphatasia, infantile OMIM#241500 31413732;30811537 False 3 100;0;0 1.116 True ENSG00000162551 ENSG00000162551 HGNC:438 AMACR gene AMACR BabySeq Category C gene;Expert Review Green BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal Bile acid synthesis defect, congenital, 4, MIM# 214950 12512044 False 3 100;0;0 1.116 True ENSG00000242110 ENSG00000242110 HGNC:451 AMN gene AMN BabySeq Category A gene;BeginNGS;Expert Review Green BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal Megaloblastic anemia-1, Norwegian type, MIM#618882 False 3 100;0;0 1.116 True ENSG00000166126 ENSG00000166126 HGNC:14604 AP3B1 gene AP3B1 BabySeq Category A gene;Expert Review Green BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal Hermansky-Pudlak syndrome 2, MIM# 608233 MONDO:0011997 False 3 100;0;0 1.116 True ENSG00000132842 ENSG00000132842 HGNC:566 AQP2 gene AQP2 BeginNGS;Expert Review Green BabyScreen+ newborn screening Screening BOTH monoallelic and biallelic, autosomal or pseudoautosomal Diabetes insipidus, nephrogenic, 2, MIM#125800 7537761;11536078 False 3 100;0;0 1.116 True ENSG00000167580 ENSG00000167580 HGNC:634 ARG1 gene ARG1 BabySeq Category A gene;BeginNGS;Expert Review Green BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal Arginase deficiency, MIM#207800 False 3 100;0;0 1.116 True ENSG00000118520 ENSG00000118520 HGNC:663 ARPC1B gene ARPC1B BeginNGS;Expert Review Green BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal Immunodeficiency 71 with inflammatory disease and congenital thrombocytopenia, MIM#617718 False 3 100;0;0 1.116 True ENSG00000130429 ENSG00000130429 HGNC:704 ARSA gene ARSA BabySeq Category A gene;Expert Review Green BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal Metachromatic leukodystrophy, MIM# 250100 25987178;23348427;33195324 False 3 100;0;0 1.116 True ENSG00000100299 ENSG00000100299 HGNC:713 ARSB gene ARSB BabySeq Category A gene;Expert Review Green BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal Mucopolysaccharidosis VI (MPS6, MIM# 253200 31142378 False 3 100;0;0 1.116 True ENSG00000113273 ENSG00000113273 HGNC:714 ASL gene ASL BabySeq Category A gene;BeginNGS;Expert Review Green BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal Argininosuccinic aciduria, MIM#207900 False 3 100;0;0 1.116 True ENSG00000126522 ENSG00000126522 HGNC:746 ASS1 gene ASS1 BabySeq Category A gene;BeginNGS;Expert Review Green BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal Citrullinaemia, MIM#215700 False 3 100;0;0 1.116 True ENSG00000130707 ENSG00000130707 HGNC:758 ATP6V0A4 gene ATP6V0A4 BeginNGS;Expert Review Green BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal "Distal renal tubular acidosis 3, with or without sensorineural hearing loss, MIM3 602722" False 3 100;0;0 1.116 True ENSG00000105929 ENSG00000105929 HGNC:866 ATP6V1B1 gene ATP6V1B1 BabySeq Category A gene;BeginNGS;Expert Review Green BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal Distal renal tubular acidosis 2 with progressive sensorineural hearing loss, MIM# 267300 False 3 100;0;0 1.116 True ENSG00000116039 ENSG00000116039 HGNC:853 ATP7A gene ATP7A BabySeq Category A gene;BabySeq Category C gene;Expert Review Green BabyScreen+ newborn screening Screening X-LINKED: hemizygous mutation in males, biallelic mutations in females Menkes disease, MIM# 309400 30594472 False 3 100;0;0 1.116 True ENSG00000165240 ENSG00000165240 HGNC:869 ATP7B gene ATP7B BabySeq Category A gene;Expert Review Green BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal Wilson disease MIM#277900 False 3 50;50;0 1.116 True ENSG00000123191 ENSG00000123191 HGNC:870 AVP gene AVP Expert Review;Expert Review Green BabyScreen+ newborn screening Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Diabetes insipidus, neurohypophyseal MIM#125700 32052034;31238300 False 3 100;0;0 1.116 True ENSG00000101200 ENSG00000101200 HGNC:894 AVPR2 gene AVPR2 BabySeq Category A gene;BeginNGS;Expert Review Green BabyScreen+ newborn screening Screening X-LINKED: hemizygous mutation in males, biallelic mutations in females Diabetes insipidus, nephrogenic, MIM#304800 False 3 100;0;0 1.116 True ENSG00000126895 ENSG00000126895 HGNC:897 BCHE gene BCHE Expert list;Expert Review Green BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal "Butyrylcholinesterase deficiency, MIM# 617936" False 3 50;50;0 1.116 True ENSG00000114200 ENSG00000114200 HGNC:983 BCKDHA gene BCKDHA BabySeq Category A gene;Expert Review Green BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal Maple syrup urine disease, type Ia, MIM# 248600 False 3 100;0;0 1.116 True ENSG00000248098 ENSG00000248098 HGNC:986 BCKDHB gene BCKDHB BabySeq Category A gene;Expert Review Green BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal Maple syrup urine disease, type Ib, MIM# 248600 False 3 100;0;0 1.116 True ENSG00000083123 ENSG00000083123 HGNC:987 BCKDK gene BCKDK BeginNGS;Expert Review Green BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal "Branched-chain keto acid dehydrogenase kinase deficiency, MIM# 614923" False 3 100;0;0 1.116 True ENSG00000103507 ENSG00000103507 HGNC:16902 BLNK gene BLNK BeginNGS;Expert Review Green BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal Agammaglobulinaemia 4, MIM#613502 10583958;32194234;25893637 False 3 100;0;0 1.116 True ENSG00000095585 ENSG00000095585 HGNC:14211 BMP1 gene BMP1 Expert list;Expert Review Green BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal Osteogenesis imperfecta, type XIII , MIM#614856 33818922 False 3 100;0;0 1.116 True ENSG00000168487 ENSG00000168487 HGNC:1067 BRCA1 gene BRCA1 BabySeq Category C gene;Expert Review Green BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal Fanconi anemia, complementation group S, MIM# 617883 False 3 100;0;0 1.116 True ENSG00000012048 ENSG00000012048 HGNC:1100 BRCA2 gene BRCA2 BabySeq Category A gene;BabySeq Category C gene;BeginNGS;Expert Review Green BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal Fanconi anaemia, complementation group D1, MIM# 605724 False 3 100;0;0 1.116 True ENSG00000139618 ENSG00000139618 HGNC:1101 BRIP1 gene BRIP1 BeginNGS;Expert Review Green BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal "Fanconi anaemia, complementation group J, MIM# 609054" False 3 100;0;0 1.116 True ENSG00000136492 ENSG00000136492 HGNC:20473 BSCL2 gene BSCL2 BabySeq Category A gene;BabySeq Category C gene;Expert Review Green BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal Lipodystrophy, congenital generalized, type 2, MIM# 269700;Berardinelli-Seip lipodystrophy False 3 100;0;0 1.116 True ENSG00000168000 ENSG00000168000 HGNC:15832 BSND gene BSND BabySeq Category A gene;Expert Review Green BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal Bartter syndrome, type 4a, MIM# 602522 False 3 100;0;0 1.116 True ENSG00000162399 ENSG00000162399 HGNC:16512 BTD gene BTD BabySeq Category A gene;BeginNGS;Expert Review Green BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal Biotinidase deficiency, MIM#253260 False 3 100;0;0 1.116 True ENSG00000169814 ENSG00000169814 HGNC:1122 BTK gene BTK BabySeq Category A gene;BeginNGS;Expert Review Green BabyScreen+ newborn screening Screening X-LINKED: hemizygous mutation in males, biallelic mutations in females Agammaglobulinemia, X-linked 1, MIM#300755 False 3 100;0;0 1.116 True ENSG00000010671 ENSG00000010671 HGNC:1133 C17orf62 gene C17orf62 Expert Review;Expert Review Green BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal Chronic granulomatous disease 5, autosomal recessive, MIM# 618935 30361506;30312704;28351984 False 3 100;0;0 1.116 True ENSG00000178927 ENSG00000178927 HGNC:28672 C2 gene C2 Expert list;Expert Review Green BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal "C2 deficiency, MIM# 217000" 31421540 False 3 100;0;0 1.116 True ENSG00000166278 ENSG00000166278 HGNC:1248 C3 gene C3 BabySeq Category C gene;BeginNGS;Expert Review Green BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal "C3 deficiency, MIM# 613779" False 3 100;0;0 1.116 True ENSG00000125730 ENSG00000125730 HGNC:1318 C5 gene C5 BeginNGS;Expert Review Green BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal "C5 deficiency, MIM# 609536" False 3 100;0;0 1.116 True ENSG00000106804 ENSG00000106804 HGNC:1331 C6 gene C6 BeginNGS;Expert Review Green BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal "C6 deficiency, MIM# 612446" False 3 100;0;0 1.116 True ENSG00000039537 ENSG00000039537 HGNC:1339 C7 gene C7 BeginNGS;Expert Review Green BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal "C7 deficiency, MIM# 610102" False 3 100;0;0 1.116 True ENSG00000112936 ENSG00000112936 HGNC:1346 C8B gene C8B BeginNGS;Expert Review Green BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal "C8 deficiency, type II, MIM# 613789" False 3 100;0;0 1.116 True ENSG00000021852 ENSG00000021852 HGNC:1353 C9 gene C9 BeginNGS;Expert Review Green BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal "C9 deficiency, MIM# 613825" False 3 100;0;0 1.116 True ENSG00000113600 ENSG00000113600 HGNC:1358 CA12 gene CA12 Expert Review;Expert Review Green BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal Hyperchlorhidrosis, isolated MIM#143860 False 3 100;0;0 1.116 True ENSG00000074410 ENSG00000074410 HGNC:1371 CA2 gene CA2 BabySeq Category A gene;Expert Review Green BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal Osteopetrosis, autosomal recessive 3, with renal tubular acidosis, MIM#259730 False 3 100;0;0 1.116 True ENSG00000104267 ENSG00000104267 HGNC:1373 CA5A gene CA5A BeginNGS;Expert Review Green BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal "Hyperammonaemia due to carbonic anhydrase VA deficiency, MIM# 615751" False 3 100;0;0 1.116 True ENSG00000174990 ENSG00000174990 HGNC:1377 CABP2 gene CABP2 Expert list;Expert Review Green BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal Deafness, autosomal recessive 93, MIM# 614899 False 3 100;0;0 1.116 True ENSG00000167791 ENSG00000167791 HGNC:1385 CACNA1S gene CACNA1S BabySeq Category C gene;Expert Review Green BabyScreen+ newborn screening Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Malignant hyperthermia susceptibility 5, MIM# 601887 False 3 100;0;0 1.116 True ENSG00000081248 ENSG00000081248 HGNC:1397 CAD gene CAD Expert list;Expert Review Green BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal "Developmental and epileptic encephalopathy 50, MIM# 616457" 28007989 False 3 100;0;0 1.116 True ENSG00000084774 ENSG00000084774 HGNC:1424 CALM3 gene CALM3 ClinGen;Expert Review Green BabyScreen+ newborn screening Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Long QT syndrome 16, MIM#618782 False 3 100;0;0 1.116 True ENSG00000160014 ENSG00000160014 HGNC:1449 CARD11 gene CARD11 Expert list;Expert Review Green BabyScreen+ newborn screening Screening BOTH monoallelic and biallelic, autosomal or pseudoautosomal Immunodeficiency 11A, autosomal recessive, MIM# 615206;Immunodeficiency 11B with atopic dermatitis, autosomal dominant, MIM# 617638 23374270;28628108;23561803;12818158 False 3 100;0;0 1.116 True ENSG00000198286 ENSG00000198286 HGNC:16393 CASR gene CASR BeginNGS;Expert Review Green BabyScreen+ newborn screening Screening BOTH monoallelic and biallelic, autosomal or pseudoautosomal Hypocalcemia, autosomal dominant MIM#601198;Hyperparathyroidism, neonatal MIM#239200 False 3 100;0;0 1.116 True ENSG00000036828 ENSG00000036828 HGNC:1514 CAV1 gene CAV1 Expert list;Expert Review Green BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal "Lipodystrophy, congenital generalized, type 3, MIM# 612526" 29704234 False 3 100;0;0 1.116 True ENSG00000105974 ENSG00000105974 HGNC:1527 CAVIN1 gene CAVIN1 BabySeq Category A gene;Expert Review Green BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal Lipodystrophy, congenital generalized, type 4, MIM# 613327 19726876;20300641;20684003;18840361 False 3 100;0;0 1.116 True ENSG00000177469 ENSG00000177469 HGNC:9688 CBS gene CBS BabySeq Category A gene;Expert Review Green BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal Homocystinuria (MIM# 236200) 27778219 False 3 100;0;0 1.116 True ENSG00000160200 ENSG00000160200 HGNC:1550 CD19 gene CD19 Expert list;Expert Review Green BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal "Immunodeficiency, common variable, 3, MIM# 613493" False 3 100;0;0 1.116 True ENSG00000177455 ENSG00000177455 HGNC:1633 CD247 gene CD247 Expert Review;Expert Review Green BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal Immunodeficiency 25, MIM# 610163 16672702;17170122 False 3 100;0;0 1.116 True ENSG00000198821 ENSG00000198821 HGNC:1677 CD27 gene CD27 Expert list;Expert Review Green BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal CD27-deficiency MIM# 615122 22197273;22801960;22365582;25843314;11062504 False 3 100;0;0 1.116 True ENSG00000139193 ENSG00000139193 HGNC:11922 CD3D gene CD3D BeginNGS;Expert list;Expert Review Green BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal "Immunodeficiency 19, MIM# 615617" False 3 100;0;0 1.116 True ENSG00000167286 ENSG00000167286 HGNC:1673 CD3E gene CD3E BeginNGS;Expert Review Green BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal "Immunodeficiency 18, MIM# 615615" False 3 100;0;0 1.116 True ENSG00000198851 ENSG00000198851 HGNC:1674 CD3G gene CD3G Expert list;Expert Review Green BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal Immunodeficiency 17;CD3 gamma deficient MIM# 615607 31921117 False 3 100;0;0 1.116 True ENSG00000160654 ENSG00000160654 HGNC:1675 CD40 gene CD40 Expert list;Expert Review Green BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal "Immunodeficiency with hyper-IgM, type 3, MIM# 606843" 29884852 False 3 100;0;0 1.116 True ENSG00000101017 ENSG00000101017 HGNC:11919 CD40LG gene CD40LG BabySeq Category A gene;Expert Review Green BabyScreen+ newborn screening Screening X-LINKED: hemizygous mutation in males, biallelic mutations in females Immunodeficiency, X-linked, with hyper-IgM MIM# 308230 False 3 100;0;0 1.116 True ENSG00000102245 ENSG00000102245 HGNC:11935 CD55 gene CD55 Expert Review;Expert Review Green BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal Complement hyperactivation, angiopathic thrombosis, and protein-losing enteropathy, MIM# 226300 33398182 False 3 100;0;0 1.116 True ENSG00000196352 ENSG00000196352 HGNC:2665 CD70 gene CD70 Expert Review;Expert Review Green BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal Lymphoproliferative syndrome 3, MIM# 618261 False 3 100;0;0 1.116 True ENSG00000125726 ENSG00000125726 HGNC:11937 CD79A gene CD79A BeginNGS;Expert Review Green BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal "Agammaglobulinaemia 3, MIM# 613501" False 3 100;0;0 1.116 True ENSG00000105369 ENSG00000105369 HGNC:1698 CD79B gene CD79B BeginNGS;Expert Review Green BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal "Agammaglobulinaemia 6, MIM# 612692" False 3 100;0;0 1.116 True ENSG00000007312 ENSG00000007312 HGNC:1699 CDC14A gene CDC14A Expert list;Expert Review Green BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal Deafness, autosomal recessive 32, with or without immotile sperm, MIM# 608653 False 3 100;0;0 1.116 True ENSG00000079335 ENSG00000079335 HGNC:1718 CDCA7 gene CDCA7 Expert Review;Expert Review Green BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal Immunodeficiency-centromeric instability-facial anomalies syndrome 3, MIM# 616910 26216346 False 3 100;0;0 1.116 True ENSG00000144354 ENSG00000144354 HGNC:14628 CDCA8 gene CDCA8 Expert list;Expert Review Green BabyScreen+ newborn screening Screening BOTH monoallelic and biallelic, autosomal or pseudoautosomal Congenital hypothyroidism, MONDO:0018612, CDCA8-related 28025328;29546359 False 3 100;0;0 1.116 True ENSG00000134690 ENSG00000134690 HGNC:14629 CDH23 gene CDH23 BabySeq Category A gene;Expert Review Green BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal Usher syndrome, type 1D (MIM# 601067);Deafness, autosomal recessive 12 (MIM # 601386);Usher syndrome, type 1D/F digenic (MIM #601067) False 3 100;0;0 1.116 True ENSG00000107736 ENSG00000107736 HGNC:13733 CDKN1C gene CDKN1C BabySeq Category A gene;BeginNGS;Expert Review Green BabyScreen+ newborn screening Screening MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed) IMAGe syndrome, MIM# 614732 False 3 100;0;0 1.116 True ENSG00000129757 ENSG00000129757 HGNC:1786 CEBPE gene CEBPE Expert Review;Expert Review Green BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal Specific granule deficiency, MIM# 245480 False 3 100;0;0 1.116 True ENSG00000092067 ENSG00000092067 HGNC:1836 CFD gene CFD BabySeq Category C gene;BeginNGS;Expert Review Green BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal "Complement factor D deficiency, MIM# 613912" 11457876;16527897;31440263 False 3 100;0;0 1.116 True ENSG00000197766 ENSG00000197766 HGNC:2771 CFH gene CFH BabySeq Category C gene;Expert Review Green BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal Complement factor H deficiency, MIM# 609814 False 3 100;0;0 1.116 True ENSG00000000971 ENSG00000000971 HGNC:4883 CFI gene CFI BabySeq Category C gene;Expert Review Green BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal Complement factor I deficiency MIM#610984 False 3 100;0;0 1.116 True ENSG00000205403 ENSG00000205403 HGNC:5394 CFP gene CFP BabySeq Category A gene;BeginNGS;Expert Review Green BabyScreen+ newborn screening Screening X-LINKED: hemizygous mutation in males, biallelic mutations in females Properdin deficiency, X-linked, MIM#312060 False 3 100;0;0 1.116 True ENSG00000126759 ENSG00000126759 HGNC:8864 CFTR gene CFTR BabySeq Category A gene;BeginNGS;Expert Review Green BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal Cystic fibrosis, MIM#219700 False 3 100;0;0 1.116 True ENSG00000001626 ENSG00000001626 HGNC:1884 CHAT gene CHAT BeginNGS:BabySeq Category A gene;Expert Review Green BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal Congenital myasthenic syndrome, MIM#254210 False 3 100;0;0 1.116 True ENSG00000070748 ENSG00000070748 HGNC:1912 CHRNA1 gene CHRNA1 BabySeq Category A gene;BeginNGS;Expert Review Green BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal Myasthenic syndrome, congenital, 1A, slow-channel, MIM# 601462;Myasthenic syndrome, congenital, 1B, fast-channel , MIM#608930 30808424 False 3 100;0;0 1.116 True ENSG00000138435 ENSG00000138435 HGNC:1955 CHRNB1 gene CHRNB1 BabySeq Category C gene;BeginNGS;Expert Review Green BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal "Myasthenic syndrome, congenital, 2C, associated with acetylcholine receptor deficiency, MIM# 616314;Congenital myasthenic syndrome" False 3 100;0;0 1.116 True ENSG00000170175 ENSG00000170175 HGNC:1961 CHRND gene CHRND BabySeq Category A gene;BeginNGS;Expert Review Green BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal Myasthenic syndrome, congenital, 3B, fast-channel, MIM#616322;Myasthenic syndrome, congenital, 3C, associated with acetylcholine receptor deficiency, MIM#616323;Myasthenic syndrome, congenital, 3A, slow-channel, MIM#616321;Multiple pterygium syndrome, lethal type, MIM# 253290;MONDO:0009668 30808424 False 3 100;0;0 1.116 True ENSG00000135902 ENSG00000135902 HGNC:1965 CHRNE gene CHRNE BabySeq Category A gene;BeginNGS;Expert Review Green BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal Myasthenic syndrome, congenital, 4B, fast-channel, 616324;Myasthenic syndrome, congenital, 4C, associated with acetylcholine receptor deficiency, 608931;Myasthenic syndrome, slow-channel congenital, 601462;Myasthenic syndrome, congenital, 4A, slow-channel, 605809 False 3 100;0;0 1.116 True ENSG00000108556 ENSG00000108556 HGNC:1966 CIB2 gene CIB2 Expert list;Expert Review Green BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal Deafness, autosomal recessive 48, MIM# 609439 27344577;26473954;26445815;23023331;26173970;26226137 False 3 100;0;0 1.116 True ENSG00000136425 ENSG00000136425 HGNC:24579 CIITA gene CIITA Expert Review;Expert Review Green BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal Bare Lymphocyte Syndrome, type II, complementation group A MIM# 209920 False 3 100;0;0 1.116 True ENSG00000179583 ENSG00000179583 HGNC:7067 CLCN7 gene CLCN7 BabySeq Category C gene;BeginNGS;Expert Review Green BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal Osteopetrosis, autosomal recessive 4, MIM# 611490 False 3 100;0;0 1.116 True ENSG00000103249 ENSG00000103249 HGNC:2025 CLDN14 gene CLDN14 BabySeq Category A gene;Expert Review Green BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal Deafness, autosomal recessive 29, MIM# 614035 False 3 100;0;0 1.116 True ENSG00000159261 ENSG00000159261 HGNC:2035 CLPP gene CLPP BabySeq Category C gene;Expert Review Green BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal Perrault syndrome 3, MIM# 614129 25254289;27087618;27899912;23541340 False 3 100;0;0 1.116 True ENSG00000125656 ENSG00000125656 HGNC:2084 COCH gene COCH BabySeq Category A gene;Expert Review Green BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal Deafness, autosomal recessive 110, MIM# 618094 21046548;26256111;9806553;16151338;28099493;22931125;18312449;28116169;28733840;17561763;18697796;32562050;29449721;32939038;22610276 False 3 100;0;0 1.116 True ENSG00000100473 ENSG00000100473 HGNC:2180 COL11A1 gene COL11A1 BabySeq Category A gene;Expert Review Green BabyScreen+ newborn screening Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Stickler syndrome, type II, MIM# 604841 False 3 100;0;0 1.116 True ENSG00000060718 ENSG00000060718 HGNC:2186 COL11A2 gene COL11A2 BabySeq Category A gene;Expert Review Green BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal Deafness, autosomal recessive 53, MIM# 609706 False 3 100;0;0 1.116 True ENSG00000204248 ENSG00000204248 HGNC:2187 COL13A1 gene COL13A1 BeginNGS;Expert Review Green BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal "Myasthenic syndrome, congenital, 19, MIM# 616720" False 3 100;0;0 1.116 True ENSG00000197467 ENSG00000197467 HGNC:2190 COL1A1 gene COL1A1 BabySeq Category A gene;BabySeq Category C gene;Expert Review Green BabyScreen+ newborn screening Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Osteogenesis imperfecta, type I, MIM#166200 False 3 100;0;0 1.116 True ENSG00000108821 ENSG00000108821 HGNC:2197 COL1A2 gene COL1A2 BabySeq Category A gene;Expert Review Green BabyScreen+ newborn screening Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Osteogenesis imperfecta, type II , MIM#166210 False 3 100;0;0 1.116 True ENSG00000164692 ENSG00000164692 HGNC:2198 COL2A1 gene COL2A1 BabySeq Category A gene;Expert Review Green BabyScreen+ newborn screening Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Stickler syndrome, type I, MIM# 108300 False 3 100;0;0 1.116 True ENSG00000139219 ENSG00000139219 HGNC:2200 COL4A3 gene COL4A3 BabySeq Category A gene;Expert Review Green BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal Alport syndrome 2, autosomal recessive, MIM# 203780 False 3 100;0;0 1.116 True ENSG00000169031 ENSG00000169031 HGNC:2204 COL4A4 gene COL4A4 BabySeq Category A gene;Expert Review Green BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal Alport syndrome 2, autosomal recessive MIM#203780 False 3 100;0;0 1.116 True ENSG00000081052 ENSG00000081052 HGNC:2206 COL4A5 gene COL4A5 BabySeq Category A gene;Expert Review Green BabyScreen+ newborn screening Screening X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Alport syndrome 1, X-linked, MIM# 301050 False 3 100;0;0 1.116 True ENSG00000188153 ENSG00000188153 HGNC:2207 COL9A1 gene COL9A1 BabySeq Category C gene;Expert Review Green BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal Stickler syndrome, type IV, MIM#614134 False 3 100;0;0 1.116 True ENSG00000112280 ENSG00000112280 HGNC:2217 COL9A2 gene COL9A2 BabySeq Category C gene;Expert Review Green BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal Stickler syndrome, type V, MIM# 614284 False 3 50;50;0 1.116 True ENSG00000049089 ENSG00000049089 HGNC:2218 COL9A3 gene COL9A3 Expert list;Expert Review Green BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal Stickler syndrome, type VI, MIM# 620022 False 3 100;0;0 1.116 True ENSG00000092758 ENSG00000092758 HGNC:2219 COLQ gene COLQ BabySeq Category A gene;BeginNGS;Expert Review Green BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal Congenital myasthenic syndrome, MIM#603034 False 3 100;0;0 1.116 True ENSG00000206561 ENSG00000206561 HGNC:2226 COQ2 gene COQ2 BabySeq Category C gene;BeginNGS;Expert Review Green BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal "Coenzyme Q10 deficiency, primary, 1, MIM# 607426" False 3 100;0;0 1.116 True ENSG00000173085 ENSG00000173085 HGNC:25223 COQ4 gene COQ4 BeginNGS;Expert Review Green BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal "Coenzyme Q10 deficiency, primary, 7, MIM# 616276" False 3 50;50;0 1.116 True ENSG00000167113 ENSG00000167113 HGNC:19693 COQ6 gene COQ6 BabySeq Category C gene;BeginNGS;Expert Review Green BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal "Coenzyme Q10 deficiency, primary, 6, MIM# 614650" False 3 100;0;0 1.116 True ENSG00000119723 ENSG00000119723 HGNC:20233 COQ8A gene COQ8A BeginNGS;Expert Review Green BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal "Coenzyme Q10 deficiency, primary, 4, MIM# 612016" 32337771 False 3 50;50;0 1.116 True ENSG00000163050 ENSG00000163050 HGNC:16812 CORO1A gene CORO1A Expert list;Expert Review Green BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal Immunodeficiency 8 MIM# 615401 False 3 100;0;0 1.116 True ENSG00000102879 ENSG00000102879 HGNC:2252 CPS1 gene CPS1 BabySeq Category A gene;BeginNGS;Expert Review Green BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal Carbamoylphosphate synthetase I deficiency, MIM#237300 28281899 False 3 100;0;0 1.116 True ENSG00000021826 ENSG00000021826 HGNC:2323 CPT1A gene CPT1A BabySeq Category A gene;BeginNGS;Expert Review Green BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal Carnitine palmitoyltransferase I deficiency, MIM#255120 32885845 False 3 100;0;0 1.116 True ENSG00000110090 ENSG00000110090 HGNC:2328 CPT2 gene CPT2 BabySeq Category A gene;Expert Review Green BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal CPT II deficiency, infantile 600649;CPT II deficiency, lethal neonatal 608836;CPT II deficiency, myopathic, stress-induced 255110 32885845 False 3 100;0;0 1.116 True ENSG00000157184 ENSG00000157184 HGNC:2330 CRTAP gene CRTAP BabySeq Category A gene;Expert Review Green BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal Osteogenesis imperfecta, type VII, MIM# MIM#610682 False 3 100;0;0 1.116 True ENSG00000170275 ENSG00000170275 HGNC:2379 CSF3R gene CSF3R BeginNGS;Expert Review Green BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal "Neutropenia, severe congenital, 7, autosomal recessive , MIM#617014" False 3 100;0;0 1.116 True ENSG00000119535 ENSG00000119535 HGNC:2439 CTNS gene CTNS BabySeq Category A gene;Expert Review Green BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal Cystinosis, nephropathic MIM#219800 False 3 100;0;0 1.116 True ENSG00000040531 ENSG00000040531 HGNC:2518 CTPS1 gene CTPS1 BeginNGS;Expert Review Green BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal "Immunodeficiency 24, MIM# 615897" False 3 100;0;0 1.116 True ENSG00000171793 ENSG00000171793 HGNC:2519 CUBN gene CUBN BabySeq Category A gene;BeginNGS;Expert Review Green BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal Megaloblastic anaemia-1, Finnish type, MIM#261100 False 3 100;0;0 1.116 True ENSG00000107611 ENSG00000107611 HGNC:2548 CUL3 gene CUL3 Expert list;Expert Review Green BabyScreen+ newborn screening Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Pseudohypoaldosteronism, type IIE 614496 False 3 100;0;0 1.116 True ENSG00000036257 ENSG00000036257 HGNC:2553 CXCR4 gene CXCR4 BeginNGS;Expert Review Green BabyScreen+ newborn screening Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted "WHIM syndrome 1, MIM# 193670" False 3 100;0;0 1.116 True ENSG00000121966 ENSG00000121966 HGNC:2561 CYB561 gene CYB561 Expert list;Expert Review Green BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal "Orthostatic hypotension 2, MIM# 618182" 29343526;31822578 False 3 100;0;0 1.116 True ENSG00000008283 ENSG00000008283 HGNC:2571 CYBA gene CYBA BabySeq Category A gene;BeginNGS;Expert Review Green BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal Chronic granulomatous disease, MIM#233690 False 3 100;0;0 1.116 True ENSG00000051523 ENSG00000051523 HGNC:2577 CYBB gene CYBB BabySeq Category A gene;BeginNGS;Expert Review Green BabyScreen+ newborn screening Screening X-LINKED: hemizygous mutation in males, biallelic mutations in females Chronic granulomatous disease, MIM#306400 False 3 100;0;0 1.116 True ENSG00000165168 ENSG00000165168 HGNC:2578 CYP11A1 gene CYP11A1 BabySeq Category A gene;BeginNGS;Expert Review Green BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal Adrenal insufficiency, congenital, with 46XY sex reversal, partial or complete, MIM#613743 False 3 100;0;0 1.116 True ENSG00000140459 ENSG00000140459 HGNC:2590 CYP11B1 gene CYP11B1 BabySeq Category A gene;BeginNGS;Expert Review Green BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal Adrenal hyperplasia, congenital, due to 11-beta-hydroxylase deficiency, MIM#202010 27928728 False 3 100;0;0 1.116 True ENSG00000160882 ENSG00000160882 HGNC:2591 CYP11B2 gene CYP11B2 BeginNGS;Expert Review Green BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal "Hypoaldosteronism, congenital, due to CMO I deficiency, MIM# 203400;Hypoaldosteronism, congenital, due to CMO II deficiency, MIM# 610600" False 3 100;0;0 1.116 True ENSG00000179142 ENSG00000179142 HGNC:2592 CYP17A1 gene CYP17A1 BeginNGS;Expert Review Green BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal "17,20-lyase deficiency, isolated , MIM#202110" False 3 100;0;0 1.116 True ENSG00000148795 ENSG00000148795 HGNC:2593 CYP21A2 gene CYP21A2 BabySeq Category A gene;BeginNGS;Expert Review Green BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal Adrenal hyperplasia, congenital, due to 21-hydroxylase deficiency, MIM#201910 False 3 100;0;0 1.116 True ENSG00000231852 ENSG00000231852 HGNC:2600 CYP27A1 gene CYP27A1 BabySeq Category A gene;Expert Review Green BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal Cerebrotendinous xanthomatosis, MIM# 213700 False 3 100;0;0 1.116 True ENSG00000135929 ENSG00000135929 HGNC:2605 CYP27B1 gene CYP27B1 BabySeq Category A gene;Expert Review Green BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal Vitamin D-dependent rickets, type I MIM#264700 False 3 100;0;0 1.116 True ENSG00000111012 ENSG00000111012 HGNC:2606 CYP2R1 gene CYP2R1 Expert Review;Expert Review Green BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal Rickets due to defect in vitamin D 25-hydroxylation deficiency MIM#600081 15128933;28548312 False 3 100;0;0 1.116 True ENSG00000186104 ENSG00000186104 HGNC:20580 CYP7B1 gene CYP7B1 BabySeq Category C gene;Expert Review Green BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal Bile acid synthesis defect, congenital, 3, MIM# 613812 24658845;31337596;30366773;9802883 False 3 100;0;0 1.116 True ENSG00000172817 ENSG00000172817 HGNC:2652 DBT gene DBT BabySeq Category A gene;BeginNGS;Expert Review Green BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal Maple syrup urine disease, MIM#248600 False 3 100;0;0 1.116 True ENSG00000137992 ENSG00000137992 HGNC:2698 DCLRE1C gene DCLRE1C BabySeq Category A gene;BeginNGS;Expert Review Green BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal Severe combined immunodeficiency, Athabascan type MIM# 602450;Omenn syndrome, MIM# 603554 False 3 100;0;0 1.116 True ENSG00000152457 ENSG00000152457 HGNC:17642 DDC gene DDC BabySeq Category A gene;BeginNGS;Expert Review Green BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal Aromatic L-amino acid decarboxylase deficiency, MIM#608643 False 3 100;0;0 1.116 True ENSG00000132437 ENSG00000132437 HGNC:2719 DFNB59 gene DFNB59 BabySeq Category A gene;Expert Review Green BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal Deafness, autosomal recessive 59, MIM# 610220 False 3 100;0;0 1.116 True ENSG00000204311 ENSG00000204311 HGNC:29502 DGAT1 gene DGAT1 BeginNGS;Expert Review Green BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal "Diarrhea 7, protein-losing enteropathy type , MIM# 615863" False 3 100;0;0 1.116 True ENSG00000185000 ENSG00000185000 HGNC:2843 DHCR7 gene DHCR7 BabySeq Category A gene;Expert Review Green BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal Smith-Lemli-Opitz syndrome, MIM#270400 False 3 100;0;0 1.116 True ENSG00000172893 ENSG00000172893 HGNC:2860 DHFR gene DHFR Expert Review;Expert Review Green BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal Megaloblastic anaemia due to dihydrofolate reductase deficiency, MIM# 613839 False 3 100;0;0 1.116 True ENSG00000228716 ENSG00000228716 HGNC:2861 DICER1 gene DICER1 ClinGen;Expert Review Green BabyScreen+ newborn screening Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted DICER1 syndrome, MONDO:0017288 False 3 100;0;0 1.116 True ENSG00000100697 ENSG00000100697 HGNC:17098 DLAT gene DLAT Expert Review;Expert Review Green BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal "Pyruvate dehydrogenase E2 deficiency, MIM# 245348" False 3 100;0;0 1.116 True ENSG00000150768 ENSG00000150768 HGNC:2896 DMP1 gene DMP1 BabySeq Category A gene;Expert Review Green BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal Hypophosphatemic rickets MIM#241520 False 3 100;0;0 1.116 True ENSG00000152592 ENSG00000152592 HGNC:2932 DNAJC12 gene DNAJC12 Expert Review;Expert Review Green BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal Hyperphenylalaninemia, mild, non-BH4-deficient, MIM#617384 False 3 100;0;0 1.116 True ENSG00000108176 ENSG00000108176 HGNC:28908 DNAJC21 gene DNAJC21 Expert Review;Expert Review Green BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal "Bone marrow failure syndrome 3, MIM# 617052" 29700810;28062395;27346687 False 3 100;0;0 1.116 True ENSG00000168724 ENSG00000168724 HGNC:27030 DNASE2 gene DNASE2 Expert Review;Expert Review Green BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal Autoinflammatory-pancytopenia syndrome, MIM# 619858 29259162;31775019 False 3 100;0;0 1.116 True ENSG00000105612 ENSG00000105612 HGNC:2960 DNMT3B gene DNMT3B BabySeq Category A gene;Expert Review Green BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal Immunodeficiency-centromeric instability-facial anomalies syndrome 1, MIM# 242860 False 3 100;0;0 1.116 True ENSG00000088305 ENSG00000088305 HGNC:2979 DOCK2 gene DOCK2 Expert Review;Expert Review Green BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal Immunodeficiency 40 MIM# 616433 26083206;29204803;33928462;30826364;30838481;11518968 False 3 100;0;0 1.116 True ENSG00000134516 ENSG00000134516 HGNC:2988 DOCK8 gene DOCK8 BabySeq Category A gene;BegniNGS;Expert Review Green BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal Hyper-IgE syndrome, MIM#243700 False 3 100;0;0 1.116 True ENSG00000107099 ENSG00000107099 HGNC:19191 DOK7 gene DOK7 BabySeq Category A gene;BeginNGS;Expert Review Green BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal Congenital myasthenic syndrome, MIM# 254300 False 3 100;0;0 1.116 True ENSG00000175920 ENSG00000175920 HGNC:26594 DPAGT1 gene DPAGT1 BabySeq Category A gene;BeginNGS;Expert Review Green BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal Congenital disorder of glycosylation, type Ij, MIM# 608093;DPAGT1-CDG MONDO:0011964;Myasthenic syndrome, congenital, 13, with tubular aggregates, MIM# 614750 False 3 50;50;0 1.116 True ENSG00000172269 ENSG00000172269 HGNC:2995 DUOX2 gene DUOX2 BabySeq Category A gene;Expert Review Green BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal Thyroid dyshormonogenesis 6, MIM# 607200 False 3 100;0;0 1.116 True ENSG00000140279 ENSG00000140279 HGNC:13273 DUOXA2 gene DUOXA2 BabySeq Category C gene;Expert Review Green BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal Thyroid dyshormonogenesis 5, MIM# 274900 False 3 100;0;0 1.116 True ENSG00000140274 ENSG00000140274 HGNC:32698 ECHS1 gene ECHS1 Expert list;Expert Review Green BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal Mitochondrial short-chain enoyl-CoA hydratase 1 deficiency MIM# 616277 32642440 False 3 100;0;0 1.116 True ENSG00000127884 ENSG00000127884 HGNC:3151 EDN3 gene EDN3 BabySeq Category C gene;Expert Review Green BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal Waardenburg syndrome, type 4B, MIM# 613265 False 3 100;0;0 1.116 True ENSG00000124205 ENSG00000124205 HGNC:3178 EDNRB gene EDNRB BabySeq Category C gene;Expert Review Green BabyScreen+ newborn screening Screening BOTH monoallelic and biallelic, autosomal or pseudoautosomal Waardenburg syndrome, type 4A, MIM# 277580 False 3 100;0;0 1.116 True ENSG00000136160 ENSG00000136160 HGNC:3180 EFL1 gene EFL1 BeginNGS;Expert Review Green BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal "Shwachman-Diamond syndrome 2, MIM# 617941" False 3 100;0;0 1.116 True ENSG00000140598 ENSG00000140598 HGNC:25789 EIF2AK3 gene EIF2AK3 BabySeq Category A gene;BeginNGS;Expert Review Green BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal Wolcott-Rallison syndrome, MIM#226980 False 3 100;0;0 1.116 True ENSG00000172071 ENSG00000172071 HGNC:3255 ELANE gene ELANE BabySeq Category A gene;BeginNGS;Expert Review Green BabyScreen+ newborn screening Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Neutropenia, congenital, MIM#202700 False 3 100;0;0 1.116 True 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 ENG gene ENG BabySeq Category A gene;Expert Review Green BabyScreen+ newborn screening Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Telangiectasia, hereditary hemorrhagic, type 1 MIM#187300 32894695 False 3 100;0;0 1.116 True ENSG00000106991 ENSG00000106991 HGNC:3349 ENPP1 gene ENPP1 BabySeq Category A gene;Expert Review Green BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal Arterial calcification, generalized, of infancy, 1, MIM# 208000;Hypophosphatemic rickets, autosomal recessive, 2, MIM# 613312 False 3 100;0;0 1.116 True ENSG00000197594 ENSG00000197594 HGNC:3356 EPS8 gene EPS8 Expert list;Expert Review Green BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal Autosomal recessive nonsyndromic hearing loss 102, MIM#600205, MONDO:0014428 False 3 100;0;0 1.116 True ENSG00000151491 ENSG00000151491 HGNC:3420 ERCC4 gene ERCC4 BabySeq Category C gene;BeginNGS;Expert Review Green BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal Fanconi anemia, complementation group Q, MIM# 615272 False 3 100;0;0 1.116 True ENSG00000175595 ENSG00000175595 HGNC:3436 ESPN gene ESPN BabySeq Category C gene;Expert Review Green BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal Deafness, autosomal recessive 36, MIM# 609006 26445815;28281779;10975527;18973245;15930085;15286153 False 3 100;0;0 1.116 True ENSG00000187017 ENSG00000187017 HGNC:13281 ESRRB gene ESRRB BabySeq Category A gene;Expert Review Green BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal Deafness, autosomal recessive 35, MIM#608565 False 3 100;0;0 1.116 True ENSG00000119715 ENSG00000119715 HGNC:3473 ETFA gene ETFA BabySeq Category A gene;BeginNGS;Expert Review Green BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal Glutaric acidaemia IIA, MIM#231680 31904027 False 3 100;0;0 1.116 True ENSG00000140374 ENSG00000140374 HGNC:3481 ETFB gene ETFB BabySeq Category A gene;BeginNGS;Expert Review Green BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal Glutaric acidemia IIB, MIM#231680 False 3 100;0;0 1.116 True ENSG00000105379 ENSG00000105379 HGNC:3482 ETFDH gene ETFDH BabySeq Category A gene;BeginNGS;Expert Review Green BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal Glutaric acidemia IIC, MIM#231680 31904027 False 3 100;0;0 1.116 True ENSG00000171503 ENSG00000171503 HGNC:3483 ETHE1 gene ETHE1 BabySeq Category A gene;BeginNGS;Expert Review Green BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal Ethylmalonic encephalopathy, MIM#602473 False 3 100;0;0 1.116 True ENSG00000105755 ENSG00000105755 HGNC:23287 F10 gene F10 Expert list;Expert Review Green BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal "Factor X deficiency, MIM# 227600" False 3 100;0;0 1.116 True ENSG00000126218 ENSG00000126218 HGNC:3528 F13A1 gene F13A1 BeginNGS;Expert list;Expert Review Green BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal "Factor XIIIA deficiency, MIM# 613225" False 3 100;0;0 1.116 True ENSG00000124491 ENSG00000124491 HGNC:3531 F13B gene F13B BeginNGS;Expert list;Expert Review Green BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal Factor XIIIB deficiency, MIM#613235 PMID: 31013569 False 3 100;0;0 1.116 True ENSG00000143278 ENSG00000143278 HGNC:3534 F7 gene F7 Expert list;Expert Review Green BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal Factor VII deficiency MIM# 227500 False 3 100;0;0 1.116 True ENSG00000057593 ENSG00000057593 HGNC:3544 F9 gene F9 BabySeq Category A gene;BeginNGS;Expert Review Green BabyScreen+ newborn screening Screening X-LINKED: hemizygous mutation in males, biallelic mutations in females Haemophilia B, MIM#306900 False 3 100;0;0 1.116 True ENSG00000101981 ENSG00000101981 HGNC:3551 FAH gene FAH BabySeq Category A gene;BeginNGS;Expert Review Green BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal Tyrosinaemia, type I, MIM#276700 False 3 100;0;0 1.116 True ENSG00000103876 ENSG00000103876 HGNC:3579 FAM111A gene FAM111A Expert Review;Expert Review Green BabyScreen+ newborn screening Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Kenny-Caffey syndrome, type 2, MIM# 127000 False 3 100;0;0 1.116 True ENSG00000166801 ENSG00000166801 HGNC:24725 FANCA gene FANCA BabySeq Category A gene;BeginNGS;Expert Review Green BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal Fanconi anaemia, complementation group A, MIM# 227650;MONDO:0009215 False 3 100;0;0 1.116 True ENSG00000187741 ENSG00000187741 HGNC:3582 FANCB gene FANCB BabySeq Category A gene;BeginNGS;Expert Review Green BabyScreen+ newborn screening Screening X-LINKED: hemizygous mutation in males, biallelic mutations in females Fanconi anaemia, complementation group B, MIM# 300514 False 3 100;0;0 1.116 True ENSG00000181544 ENSG00000181544 HGNC:3583 FANCC gene FANCC BabySeq Category A gene;BeginNGS;Expert Review Green BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal Fanconi anemia, complementation group C, MIM# 227645;MONDO:0009213 False 3 100;0;0 1.116 True ENSG00000158169 ENSG00000158169 HGNC:3584 FANCD2 gene FANCD2 BabySeq Category A gene;BeginNGS;Expert Review Green BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal Fanconi anaemia, complementation group D2, MIM# 227646;MONDO:0009214 False 3 100;0;0 1.116 True ENSG00000144554 ENSG00000144554 HGNC:3585 FANCG gene FANCG BabySeq Category A gene;Expert Review Green BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal Fanconi anaemia, MIM#614082 False 3 100;0;0 1.116 True ENSG00000221829 ENSG00000221829 HGNC:3588 FANCI gene FANCI BabySeq Category A gene;Expert Review Green BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal Fanconi anaemia, MIM#609053 False 3 100;0;0 1.116 True ENSG00000140525 ENSG00000140525 HGNC:25568 FBN1 gene FBN1 BabySeq Category A gene;BabySeq Category C gene;Expert Review Green BabyScreen+ newborn screening Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Marfan syndrome, MIM# 154700 False 3 100;0;0 1.116 True ENSG00000166147 ENSG00000166147 HGNC:3603 FBP1 gene FBP1 BeginNGS;Expert list;Expert Review Green BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal Fructose-1,6-bisphosphatase deficiency MIM# 229700 False 3 100;0;0 1.116 True ENSG00000165140 ENSG00000165140 HGNC:3606 FCHO1 gene FCHO1 Expert list;Expert Review Green BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal Immunodeficiency 76, MIM# 619164 32098969;30822429 False 3 100;0;0 1.116 True ENSG00000130475 ENSG00000130475 HGNC:29002 FECH gene FECH Expert list;Expert Review Green BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal "Protoporphyria, erythropoietic, 1, MIM# 177000" False 3 100;0;0 1.116 True ENSG00000066926 ENSG00000066926 HGNC:3647 FERMT3 gene FERMT3 BeginNGS;Expert Review Green BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal "Leukocyte adhesion deficiency, type III, MIM# 612840" False 3 100;0;0 1.116 True ENSG00000149781 ENSG00000149781 HGNC:23151 FGA gene FGA BabySeq Category A gene;Expert Review Green BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal Afibrinogenemia, congenital (MIM#202400) False 3 100;0;0 1.116 True ENSG00000171560 ENSG00000171560 HGNC:3661 FGB gene FGB BabySeq Category A gene;Expert Review Green BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal Afibrinogenaemia, congenital, MIM# 202400 False 3 100;0;0 1.116 True ENSG00000171564 ENSG00000171564 HGNC:3662 FGF23 gene FGF23 Expert list;Expert Review Green BabyScreen+ newborn screening Screening BOTH monoallelic and biallelic, autosomal or pseudoautosomal autosomal dominant hypophosphatemic rickets MONDO:0008660;familial hyperphosphatemic tumoral calcinosis/hyperphosphatemic hyperostosis syndrome MONDO:0100251 False 3 100;0;0 1.116 True ENSG00000118972 ENSG00000118972 HGNC:3680 FGF3 gene FGF3 BabySeq Category A gene;Expert Review Green BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal Deafness, congenital with inner ear agenesis, microtia, and microdontia, MIM# 610706 False 3 100;0;0 1.116 True ENSG00000186895 ENSG00000186895 HGNC:3681 FGFR3 gene FGFR3 BabySeq Category A gene;BabySeq Category C gene;Expert Review Green BabyScreen+ newborn screening Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Achondroplasia MONDO:0007037 34341520;31269546 False 3 100;0;0 1.116 True ENSG00000068078 ENSG00000068078 HGNC:3690 FGG gene FGG BabySeq Category A gene;Expert Review Green BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal Afibrinogenemia, congenital, MIM# 202400 False 3 100;0;0 1.116 True ENSG00000171557 ENSG00000171557 HGNC:3694 FH gene FH BabySeq Category A gene;BabySeq Category C gene;Expert Review Green BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal Fumurase deficiency MIM# 606812 False 3 100;0;0 1.116 True ENSG00000091483 ENSG00000091483 HGNC:3700 FKBP10 gene FKBP10 Expert list;Expert Review Green BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal Osteogenesis imperfecta, type XI, OMIM:610968 34173012 False 3 100;0;0 1.116 True ENSG00000141756 ENSG00000141756 HGNC:18169 FLAD1 gene FLAD1 BeginNGS;Expert Review Green BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal "Lipid storage myopathy due to flavin adenine dinucleotide synthetase deficiency, MIM# 255100" 30680745;31392824 False 3 50;50;0 1.116 True ENSG00000160688 ENSG00000160688 HGNC:24671 FOLR1 gene FOLR1 Expert list;Expert Review Green BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal Neurodegeneration due to cerebral folate transport deficiency, MIM# 613068 19732866;30420205;27743887 False 3 100;0;0 1.116 True ENSG00000110195 ENSG00000110195 HGNC:3791 FOXA2 gene FOXA2 BeginNGS;Expert Review Green BabyScreen+ newborn screening Screening MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Hyperinsulinism MONDO:0002177 False 3 100;0;0 1.116 True ENSG00000125798 ENSG00000125798 HGNC:5022 FOXE1 gene FOXE1 BabySeq Category C gene;Expert Review Green BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal Bamforth-Lazarus syndrome MIM# 241850 33272083;2918525;20453517;35963604 False 3 100;0;0 1.116 True ENSG00000178919 ENSG00000178919 HGNC:3806 FOXN1 gene FOXN1 BabySeq Category C gene;BeginNGS;Expert Review Green BabyScreen+ newborn screening Screening BOTH monoallelic and biallelic, autosomal or pseudoautosomal T-cell immunodeficiency, congenital alopecia, and nail dystrophy, autosomal recessive MIM# 601705;T-cell lymphopenia, infantile, with or without nail dystrophy, autosomal dominant, MIM#t 618806 31447097;18339010;10206641 False 3 100;0;0 1.116 True ENSG00000109101 ENSG00000109101 HGNC:12765 FOXP3 gene FOXP3 BabySeq Category A gene;BeginNGS;Expert Review Green BabyScreen+ newborn screening Screening X-LINKED: hemizygous mutation in males, biallelic mutations in females IPEX syndrome, MIM#304790 False 3 100;0;0 1.116 True ENSG00000049768 ENSG00000049768 HGNC:6106 FUCA1 gene FUCA1 BabySeq Category A gene;Expert Review Green BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal Fucosidosis, MIM# 230000 33266441 False 3 50;50;0 1.116 True ENSG00000179163 ENSG00000179163 HGNC:4006 G6PC gene G6PC BabySeq Category A gene;BeginNGS;Expert Review Green BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal Glycogen storage disease Ia, MIM#232200 25356975 False 3 100;0;0 1.116 True ENSG00000131482 ENSG00000131482 HGNC:4056 G6PC3 gene G6PC3 BabySeq Category A gene;BeginNGS;Expert Review Green BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal Neutropaenia, congenital, MIM#612541 False 3 100;0;0 1.116 True ENSG00000141349 ENSG00000141349 HGNC:24861 G6PD gene G6PD BabySeq Category A gene;BeginNGS;Expert Review Green BabyScreen+ newborn screening Screening X-LINKED: hemizygous mutation in males, biallelic mutations in females Glucose-6-phosphate dehydrogenase deficiency, MIM#300908 False 3 100;0;0 1.116 True ENSG00000160211 ENSG00000160211 HGNC:4057 GAA gene GAA BabySeq Category A gene;BeginNGS;Expert Review Green BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal Glycogen storage disease II, Pompe disease, MIM# 232300 False 3 100;0;0 1.116 True ENSG00000171298 ENSG00000171298 HGNC:4065 GALC gene GALC BabySeq Category A gene;Expert Review Green BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal Krabbe disease, MIM#245200 False 3 100;0;0 1.116 True ENSG00000054983 ENSG00000054983 HGNC:4115 GALE gene GALE BeginNGS;Expert Review Green BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal "Galactose epimerase deficiency , MIM#230350" False 3 100;0;0 1.116 True ENSG00000117308 ENSG00000117308 HGNC:4116 GALK1 gene GALK1 BabySeq Category A gene;BeginNGS;Expert Review Green BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal Galactokinase deficiency with cataracts, MIM#230200 False 3 100;0;0 1.116 True ENSG00000108479 ENSG00000108479 HGNC:4118 GALM gene GALM Expert Review;Expert Review Green BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal Galactosemia IV MIM#618881 False 3 100;0;0 1.116 True ENSG00000143891 ENSG00000143891 HGNC:24063 GALNS gene GALNS BabySeq Category A gene;Expert Review Green BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal Mucopolysaccharidosis IVA, MIM#253000 False 3 100;0;0 1.116 True ENSG00000141012 ENSG00000141012 HGNC:4122 GALNT3 gene GALNT3 Expert list;Expert Review Green BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal Tumoral calcinosis, hyperphosphatemic, familial, 1, MIM# 211900 False 3 100;0;0 1.116 True ENSG00000115339 ENSG00000115339 HGNC:4125 GALT gene GALT BabySeq Category A gene;BeginNGS;Expert Review Green BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal Galactosaemia, MIM#230400 False 3 100;0;0 1.116 True ENSG00000213930 ENSG00000213930 HGNC:4135 GAMT gene GAMT BeginNGS;Expert Review Green BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal "Cerebral creatine deficiency syndrome 2, MIM# 612736" False 3 100;0;0 1.116 True ENSG00000130005 ENSG00000130005 HGNC:4136 GATA2 gene GATA2 Expert list;Expert Review Green BabyScreen+ newborn screening Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Immunodeficiency 21 MIM# 614172;Emberger syndrome MIM# 614038 PMID: 25397911;30047422 False 3 100;0;0 1.116 True ENSG00000179348 ENSG00000179348 HGNC:4171 GATA3 gene GATA3 Expert list;Expert Review Green BabyScreen+ newborn screening Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Hypoparathyroidism, sensorineural deafness, and renal dysplasia, MIM# 146255 False 3 100;0;0 1.116 True ENSG00000107485 ENSG00000107485 HGNC:4172 GATA4 gene GATA4 BabySeq Category A gene;Expert Review Green BabyScreen+ newborn screening Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Neonatal diabetes mellitus, MONDO:0016391, GATA4-related False 3 67;33;0 1.116 True ENSG00000136574 ENSG00000136574 HGNC:4173 GATM gene GATM Expert list;Expert Review Green BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal Cerebral creatine deficiency syndrome 3 MIM#612718 PMID: 20301745, 34972654 False 3 100;0;0 1.116 True ENSG00000171766 ENSG00000171766 HGNC:4175 GBA gene GBA BabySeq Category A gene;Expert Review Green BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal Gaucher disease type 1, MIM#230800 False 3 100;0;0 1.116 True ENSG00000177628 ENSG00000177628 HGNC:4177 GCDH gene GCDH BabySeq Category A gene;BeginNGS;Expert Review Green BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal Glutaric aciduria, type I, MIM#231670 False 3 100;0;0 1.116 True ENSG00000105607 ENSG00000105607 HGNC:4189 GCH1 gene GCH1 BabySeq Category B gene;BeginNGS;Expert Review Green BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal Hyperphenylalaninemia, BH4-deficient, B, MIM# 233910;Dystonia, DOPA-responsive, with or without hyperphenylalaninemia, MIM# 128230 32456656;20301681 False 3 100;0;0 1.116 True ENSG00000131979 ENSG00000131979 HGNC:4193 GCK gene GCK BabySeq Category A gene;BeginNGS;Expert Review Green BabyScreen+ newborn screening Screening BOTH monoallelic and biallelic, autosomal or pseudoautosomal Hyperinsulinemic hypoglycemia, familial, MIM#602485 False 3 100;0;0 1.116 True ENSG00000106633 ENSG00000106633 HGNC:4195 GCM2 gene GCM2 Expert Review;Expert Review Green BabyScreen+ newborn screening Screening BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal Hyperparathyroidism 4, OMIM #617343;Hypoparathyroidism, familial isolated 2, OMIM #618883 27745835;20190276;34967908;35038313 False 3 100;0;0 1.116 True ENSG00000124827 ENSG00000124827 HGNC:4198 GFI1 gene GFI1 Expert list;Expert Review Green BabyScreen+ newborn screening Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Neutropenia, severe congenital 2, autosomal dominant, MIM# 613107 12778173;20560965;11810106;22684987 False 3 100;0;0 1.116 True ENSG00000162676 ENSG00000162676 HGNC:4237 GGCX gene GGCX Expert list;Expert Review Green BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal Vitamin K-dependent clotting factors, combined deficiency of, 1 MIM# 277450 28125048 False 3 100;0;0 1.116 True ENSG00000115486 ENSG00000115486 HGNC:4247 GH1 gene GH1 Expert list;Expert Review Green BabyScreen+ newborn screening Screening BOTH monoallelic and biallelic, autosomal or pseudoautosomal Growth hormone deficiency, isolated, type IA, MIM# 262400;Growth hormone deficiency, isolated, type II, MIM# 173100;Kowarski syndrome, MIM# 262650 False 3 100;0;0 1.116 True ENSG00000259384 ENSG00000259384 HGNC:4261 GHR gene GHR Expert list;Expert Review Green BabyScreen+ newborn screening Screening BOTH monoallelic and biallelic, autosomal or pseudoautosomal Growth hormone insensitivity, partial, MIM# 604271;Laron dwarfism, MIM# 262500 False 3 100;0;0 1.116 True ENSG00000112964 ENSG00000112964 HGNC:4263 GHRHR gene GHRHR Expert list;Expert Review Green BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal Growth hormone deficiency, isolated, type IV, MIM# 618157 8528260;10084571;11232012 False 3 100;0;0 1.116 True ENSG00000106128 ENSG00000106128 HGNC:4266 GIF gene GIF BeginNGS;Expert list;Expert Review Green BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal "Intrinsic factor deficiency, MIM# 261000" 35337622 False 3 100;0;0 1.116 True ENSG00000134812 ENSG00000134812 HGNC:4268 GIPC3 gene GIPC3 BabySeq Category A gene;Expert Review Green BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal Deafness, autosomal recessive 15, MIM# 601869 False 3 100;0;0 1.116 True ENSG00000179855 ENSG00000179855 HGNC:18183 GJB2 gene GJB2 BabySeq Category A gene;Expert Review Green BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal Deafness, autosomal recessive 1A, MIM# 220290 False 3 100;0;0 1.116 True ENSG00000165474 ENSG00000165474 HGNC:4284 GLA gene GLA BabySeq Category A gene;Expert Review Green BabyScreen+ newborn screening Screening X-LINKED: hemizygous mutation in males, biallelic mutations in females Fabry disease (MIM# 301500) 30017653 False 3 100;0;0 1.116 True ENSG00000102393 ENSG00000102393 HGNC:4296 GLIS3 gene GLIS3 BabySeq Category C gene;BeginNGS;Expert Review Green BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal Diabetes mellitus, neonatal, with congenital hypothyroidism MIM#610199 29406006;29992946;27899417;26259131 False 3 50;50;0 1.116 True ENSG00000107249 ENSG00000107249 HGNC:28510 GLRA1 gene GLRA1 BabySeq Category A gene;BeginNGS;Expert Review Green BabyScreen+ newborn screening Screening BOTH monoallelic and biallelic, autosomal or pseudoautosomal Hyperekplexia, hereditary 1, autosomal dominant or recessive, MIM#149400 32319239;25356525 False 3 100;0;0 1.116 True ENSG00000145888 ENSG00000145888 HGNC:4326 GLUD1 gene GLUD1 BabySeq Category A gene;BeginNGS;Expert Review Green BabyScreen+ newborn screening Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Hyperinsulinism, MIM#606762 35752848 False 3 100;0;0 1.116 True ENSG00000148672 ENSG00000148672 HGNC:4335 GNAS gene GNAS BabySeq Category A gene;Expert Review Green BabyScreen+ newborn screening Screening MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed) Pseudopseudohypoparathyroidism;Pseudohypoparathyroidism False 3 100;0;0 1.116 True ENSG00000087460 ENSG00000087460 HGNC:4392 GOT2 gene GOT2 BeginNGS;Expert Review Green BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal "Developmental and epileptic encephalopathy 82, MIM# 618721" False 3 100;0;0 1.116 True ENSG00000125166 ENSG00000125166 HGNC:4433 GPIHBP1 gene GPIHBP1 Expert list;Expert Review Green BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal Hyperlipoproteinemia, type 1D MIM#615947;familial chylomicronemia syndrome 31390500 False 3 100;0;0 1.116 True ENSG00000182851 ENSG00000277494 HGNC:24945 GREB1L gene GREB1L Expert list;Expert Review Green BabyScreen+ newborn screening Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted "Deafness, autosomal dominant 80 MIM#619274" PMID: 29955957, 32585897 False 3 100;0;0 1.116 True ENSG00000141449 ENSG00000141449 HGNC:31042 GRHPR gene GRHPR BabySeq Category A gene;Expert Review Green BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal Hyperoxaluria, primary, type II, MIM# 260000 False 3 100;0;0 1.116 True ENSG00000137106 ENSG00000137106 HGNC:4570 GRXCR1 gene GRXCR1 BabySeq Category C gene;Expert Review Green BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal "Deafness, autosomal recessive 25, MIM# 613285" 26445815;20137778;20137774;26226137;25802247;26969326 False 3 100;0;0 1.116 True ENSG00000215203 ENSG00000215203 HGNC:31673 GUSB gene GUSB BabySeq Category A gene;BeginNGS;Expert Review Green BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal Mucopolysaccharidosis VII, MIM#253220 False 3 100;0;0 1.116 True ENSG00000169919 ENSG00000169919 HGNC:4696 GYS2 gene GYS2 BabySeq Category A gene;Expert Review Green BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal Glycogen storage disease 0, liver (MIM#240600) False 3 100;0;0 1.116 True ENSG00000111713 ENSG00000111713 HGNC:4707 HADH gene HADH BabySeq Category A gene;BabySeq Category C gene;BeginNGS;Expert Review Green BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal 3-hydroxyacyl-CoA dehydrogenase deficiency, MIM# 231530 False 3 100;0;0 1.116 True ENSG00000138796 ENSG00000138796 HGNC:4799 HADHA gene HADHA BabySeq Category A gene;BeginNGS;Expert Review Green BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal "Mitochondrial trifunctional protein deficiency, MIM#609015;LCHAD deficiency, MIM# 609016" 30029694 False 3 100;0;0 1.116 True ENSG00000084754 ENSG00000084754 HGNC:4801 HADHB gene HADHB BabySeq Category A gene;BeginNGS;Expert Review Green BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal Mitochondrial trifunctional protein deficiency, MIM#609015 False 3 100;0;0 1.116 True ENSG00000138029 ENSG00000138029 HGNC:4803 HAX1 gene HAX1 BeginNGS;Expert Review Green BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal Neutropenia, severe congenital 3, autosomal recessive, MIM# 610738;Kostmann syndrome MONDO:0012548 False 3 100;0;0 1.116 True ENSG00000143575 ENSG00000143575 HGNC:16915 HBB gene HBB BabySeq Category A gene;Expert Review Green BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal Sickle cell anaemia, MIM# 603903 False 3 100;0;0 1.116 True ENSG00000244734 ENSG00000244734 HGNC:4827 HELLS gene HELLS Expert list;Expert Review Green BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal Immunodeficiency-centromeric instability-facial anomalies syndrome 4, MIM# 616911 False 3 100;0;0 1.116 True ENSG00000119969 ENSG00000119969 HGNC:4861 HESX1 gene HESX1 BabySeq Category C gene;BeginNGS;Expert Review Green BabyScreen+ newborn screening Screening BOTH monoallelic and biallelic, autosomal or pseudoautosomal Pituitary hormone deficiency, combined, 5, MIM# 182230 False 3 100;0;0 1.116 True ENSG00000163666 ENSG00000163666 HGNC:4877 HGF gene HGF BabySeq Category C gene;Expert Review Green BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal Deafness, autosomal recessive 39, MIM# 608265 False 3 100;0;0 1.116 True ENSG00000019991 ENSG00000019991 HGNC:4893 HIBCH gene HIBCH BabySeq Category C gene;Expert Review Green BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal 3-hydroxyisobutryl-CoA hydrolase deficiency MIM#250620 32642440;17160907;27400804 False 3 100;0;0 1.116 True ENSG00000198130 ENSG00000198130 HGNC:4908 HK1 gene HK1 BabySeq Category C gene;BeginNGS;Expert Review Green BabyScreen+ newborn screening Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Hyperinsulinism MONDO:0002177, HK1-related False 3 100;0;0 1.116 True ENSG00000156515 ENSG00000156515 HGNC:4922 HLCS gene HLCS BabySeq Category A gene;BeginNGS;Expert Review Green BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal Holocarboxylase synthetase deficiency, MIM#253270 False 3 100;0;0 1.116 True ENSG00000159267 ENSG00000159267 HGNC:4976 HMGCL gene HMGCL BabySeq Category A gene;BeginNGS;Expert Review Green BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal 3-hydroxy-3-methylglutaric aciduria, MIM#246450 False 3 100;0;0 1.116 True ENSG00000117305 ENSG00000117305 HGNC:5005 HOGA1 gene HOGA1 Expert list;Expert Review Green BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal Hyperoxaluria, primary, type III MIM#613616 20797690;21896830;22391140 False 3 100;0;0 1.116 True ENSG00000241935 ENSG00000241935 HGNC:25155 HSD11B2 gene HSD11B2 Expert list;Expert Review Green BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal Apparent mineralocorticoid excess, MIM# 218030;MONDO:0009025 False 3 100;0;0 1.116 True ENSG00000176387 ENSG00000176387 HGNC:5209 HSD3B2 gene HSD3B2 BeginNGS;Expert list;Expert Review Green BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal Adrenal hyperplasia, congenital, due to 3-beta-hydroxysteroid dehydrogenase 2 deficiency MIM# 201810 False 3 100;0;0 1.116 True ENSG00000203859 ENSG00000203859 HGNC:5218 HSD3B7 gene HSD3B7 BabySeq Category A gene;Expert Review Green BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal Bile acid synthesis defect, congenital, 1 MIM#607765 False 3 100;0;0 1.116 True ENSG00000099377 ENSG00000099377 HGNC:18324 ICOS gene ICOS Expert list;Expert Review Green BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal Immunodeficiency, common variable, 1 MIM# 607594 False 3 100;0;0 1.116 True ENSG00000163600 ENSG00000163600 HGNC:5351 IDS gene IDS BabySeq Category A gene;Expert Review Green BabyScreen+ newborn screening Screening X-LINKED: hemizygous mutation in males, biallelic mutations in females Mucopolysaccharidosis II (MPS2, Hunter syndrome) 309900 False 3 100;0;0 1.116 True ENSG00000010404 ENSG00000010404 HGNC:5389 IDUA gene IDUA BabySeq Category A gene;BeginNGS;Expert Review Green BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal Mucopolysaccharidosis type 1, MONDO:0001586 False 3 100;0;0 1.116 True ENSG00000127415 ENSG00000127415 HGNC:5391 IFITM5 gene IFITM5 Expert list;Expert Review Green BabyScreen+ newborn screening Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Osteogenesis imperfecta, type V MIM#610967 22863190;22863195;32383316;24519609 False 3 100;0;0 1.116 True ENSG00000206013 ENSG00000206013 HGNC:16644 IGF1 gene IGF1 BabySeq Category C gene;Expert Review Green BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal Insulin-like growth factor I deficiency, MIM# 608747 False 3 100;0;0 1.116 True ENSG00000017427 ENSG00000017427 HGNC:5464 IGHM gene IGHM BeginNGS;Expert Review Green BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal "Agammaglobulinaemia 1, MIM# 601495" False 3 100;0;0 1.116 True ENSG00000211899 ENSG00000211899 HGNC:5541 IGLL1 gene IGLL1 BeginNGS;Expert Review Green BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal "Agammaglobulinaemia 2, MIM# 613500" False 3 100;0;0 1.116 True ENSG00000128322 ENSG00000128322 HGNC:5870 IGSF1 gene IGSF1 BabySeq Category A gene;Expert Review Green BabyScreen+ newborn screening Screening X-LINKED: hemizygous mutation in males, biallelic mutations in females Hypothyroidism, central, and testicular enlargement, MIM# 300888 False 3 100;0;0 1.116 True ENSG00000147255 ENSG00000147255 HGNC:5948 IKBKB gene IKBKB Expert list;Expert Review Green BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal "Immunodeficiency 15B, MIM# 615592" False 3 100;0;0 1.116 True ENSG00000104365 ENSG00000104365 HGNC:5960 IKZF1 gene IKZF1 Expert list;Expert Review Green BabyScreen+ newborn screening Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Immunodeficiency, common variable, 13 MIM# 616873 False 3 100;0;0 1.116 True ENSG00000185811 ENSG00000185811 HGNC:13176 IL10 gene IL10 Expert list;Expert Review Green BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal Autoinflammatory syndrome, MONDO:0019751, IL10-related 22236434;20951137;19890111 False 3 100;0;0 1.116 True ENSG00000136634 ENSG00000136634 HGNC:5962 IL10RA gene IL10RA BabySeq Category A gene;BeginNGS;Expert Review Green BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal Inflammatory bowel disease 28, early onset, autosomal recessive, MIM# 613148 False 3 100;0;0 1.116 True ENSG00000110324 ENSG00000110324 HGNC:5964 IL10RB gene IL10RB BabySeq Category C gene;BeginNGS;Expert Review Green BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal "Inflammatory bowel disease 25, early onset, autosomal recessive, MIM# 612567" False 3 100;0;0 1.116 True ENSG00000243646 ENSG00000243646 HGNC:5965 IL1RN gene IL1RN Expert list;Expert Review Green BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal Interleukin 1 receptor antagonist deficiency, MIM# 612852 False 3 100;0;0 1.116 True ENSG00000136689 ENSG00000136689 HGNC:6000 IL21R gene IL21R Expert list;Expert Review Green BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal Immunodeficiency 56, MIM# 615207 False 3 100;0;0 1.116 True ENSG00000103522 ENSG00000103522 HGNC:6006 IL2RA gene IL2RA Expert list;Expert Review Green BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal Immunodeficiency 41 with lymphoproliferation and autoimmunity, MIM# 606367 False 3 100;0;0 1.116 True ENSG00000134460 ENSG00000134460 HGNC:6008 IL2RB gene IL2RB BeginNGS;Expert Review Green BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal "Immunodeficiency 63 with lymphoproliferation and autoimmunity , MIM#618495" False 3 100;0;0 1.116 True ENSG00000100385 ENSG00000100385 HGNC:6009 IL2RG gene IL2RG BabySeq Category A gene;BeginNGS;Expert Review Green BabyScreen+ newborn screening Screening X-LINKED: hemizygous mutation in males, biallelic mutations in females Severe combined immunodeficiency, X-linked, MIM#312863 False 3 100;0;0 1.116 True ENSG00000147168 ENSG00000147168 HGNC:6010 IL36RN gene IL36RN Expert list;Expert Review Green BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal Psoriasis 14, pustular, MIM# 614204 31286990 False 3 100;0;0 1.116 True ENSG00000136695 ENSG00000136695 HGNC:15561 IL7R gene IL7R BeginNGS;Expert list;Expert Review Green BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal Severe combined immunodeficiency, T-cell negative, B-cell/natural killer cell-positive type MIM#608971 False 3 100;0;0 1.116 True ENSG00000168685 ENSG00000168685 HGNC:6024 ILDR1 gene ILDR1 BabySeq Category A gene;Expert Review Green BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal Deafness, autosomal recessive 42, MIM# 609646 False 3 100;0;0 1.116 True ENSG00000145103 ENSG00000145103 HGNC:28741 INS gene INS BeginNGS;Expert list;Expert Review Green BabyScreen+ newborn screening Screening BOTH monoallelic and biallelic, autosomal or pseudoautosomal Diabetes mellitus, insulin-dependent, 2, MIM# 125852;Diabetes mellitus, permanent neonatal 4, MIM# 618858;Maturity-onset diabetes of the young, type 10, MIM# 613370 False 3 100;0;0 1.116 True ENSG00000254647 ENSG00000254647 HGNC:6081 IRAK4 gene IRAK4 BeginNGS;Expert Review Green BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal "Immunodeficiency 67, MIM# 607676" False 3 100;0;0 1.116 True ENSG00000198001 ENSG00000198001 HGNC:17967 IRF8 gene IRF8 Expert list;Expert Review Green BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal Immunodeficiency 32B, monocyte and dendritic cell deficiency, autosomal recessive, MIM# 226990 False 3 100;0;0 1.116 True ENSG00000140968 ENSG00000140968 HGNC:5358 IRS4 gene IRS4 Expert list;Expert Review Green BabyScreen+ newborn screening Screening X-LINKED: hemizygous mutation in males, biallelic mutations in females Hypothyroidism, congenital, nongoitrous, 9, MIM# 301035 30061370 False 3 100;0;0 1.116 True ENSG00000133124 ENSG00000133124 HGNC:6128 ITGA2B gene ITGA2B ClinGen;Expert Review Green BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal Glanzmann thrombasthaenia 1, MIM# 273800 False 3 100;0;0 1.116 True ENSG00000005961 ENSG00000005961 HGNC:6138 ITGB2 gene ITGB2 BeginNGS;Expert Review Green BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal "Leukocyte adhesion deficiency, MIM# 116920" False 3 100;0;0 1.116 True ENSG00000160255 ENSG00000160255 HGNC:6155 ITGB3 gene ITGB3 ClinGen;Expert Review Green BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal "Glanzmann thrombasthenia 2, MIM# 619267" False 3 100;0;0 1.116 True ENSG00000259207 ENSG00000259207 HGNC:6156 ITK gene ITK Expert list;Expert Review Green BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal "Lymphoproliferative syndrome 1, MIM# 613011" False 3 100;0;0 1.116 True ENSG00000113263 ENSG00000113263 HGNC:6171 IVD gene IVD BabySeq Category A gene;BeginNGS;Expert Review Green BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal Isovaleric acidemia, MIM#243500 False 3 100;0;0 1.116 True ENSG00000128928 ENSG00000128928 HGNC:6186 IYD gene IYD BabySeq Category C gene;Expert Review Green BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal Thyroid dyshormonogenesis 4, MIM# 274800 18765512;30240412;18434651 False 3 100;0;0 1.116 True ENSG00000009765 ENSG00000009765 HGNC:21071 JAGN1 gene JAGN1 Expert list;Expert Review Green BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal Neutropenia, severe congenital, 6, autosomal recessive, MIM# 616022 25129144 False 3 100;0;0 1.116 True ENSG00000171135 ENSG00000171135 HGNC:26926 JAK3 gene JAK3 BabySeq Category A gene;BeginNGS;Expert Review Green BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal SCID, autosomal recessive, T-negative/B-positive type, MIM#600802 False 3 100;0;0 1.116 True ENSG00000105639 ENSG00000105639 HGNC:6193 KCNH2 gene KCNH2 BabySeq Category B gene;Expert Review Green BabyScreen+ newborn screening Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Long QT syndrome 2, MIM# 613688 False 3 100;0;0 1.116 True ENSG00000055118 ENSG00000055118 HGNC:6251 KCNJ1 gene KCNJ1 BabySeq Category A gene;Expert Review Green BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal Bartter syndrome, type 2, 241200 False 3 100;0;0 1.116 True ENSG00000151704 ENSG00000151704 HGNC:6255 KCNJ11 gene KCNJ11 BabySeq Category A gene;BeginNGS;Expert Review Green BabyScreen+ newborn screening Screening BOTH monoallelic and biallelic, autosomal or pseudoautosomal Diabetes mellitus, transient neonatal, 3 610582;Diabetes, permanent neonatal, with or without neurologic features 606176;Hyperinsulinemic hypoglycemia, familial, 2 601820 False 3 100;0;0 1.116 True ENSG00000187486 ENSG00000187486 HGNC:6257 KCNJ2 gene KCNJ2 BabySeq Category A gene;Expert Review Green BabyScreen+ newborn screening Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Andersen syndrome MIM#170390 False 3 100;0;0 1.116 True ENSG00000123700 ENSG00000123700 HGNC:6263 KCNQ1 gene KCNQ1 BabySeq Category A gene;BabySeq Category B gene;BeginNGS;Expert Review Green BabyScreen+ newborn screening Screening BOTH monoallelic and biallelic, autosomal or pseudoautosomal Jervell and Lange-Nielsen syndrome MIM#220400;Long QT syndrome 1, MIM# 192500 False 3 100;0;0 1.116 True ENSG00000053918 ENSG00000053918 HGNC:6294 KDELR2 gene KDELR2 Expert list;Expert Review Green BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal Osteogenesis imperfecta 21, MIM# 619131 False 3 100;0;0 1.116 True ENSG00000136240 ENSG00000136240 HGNC:6305 KLHL3 gene KLHL3 Expert list;Expert Review Green BabyScreen+ newborn screening Screening BOTH monoallelic and biallelic, autosomal or pseudoautosomal Pseudohypoaldosteronism, type IID, MIM# 614495 False 3 100;0;0 1.116 True ENSG00000146021 ENSG00000146021 HGNC:6354 LAMA2 gene LAMA2 BabySeq Category A gene;Expert Review Green BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal Muscular dystrophy, congenital, merosin deficient or partially deficient, MIM# 607855 False 3 50;0;50 1.116 True ENSG00000196569 ENSG00000196569 HGNC:6482 LAT gene LAT Expert list;Expert Review Green BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal Immunodeficiency 52, MIM# 617514 False 3 100;0;0 1.116 True ENSG00000213658 ENSG00000213658 HGNC:18874 LDLR gene LDLR BabySeq Category A gene;Expert Review Green BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal Hypercholesterolemia, familial, 1, MIM# 143890 False 3 100;0;0 1.116 True ENSG00000130164 ENSG00000130164 HGNC:6547 LEP gene LEP Expert list;Expert Review Green BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal Obesity, morbid, due to leptin deficiency (MIM#614962) 26567097 False 3 100;0;0 1.116 True ENSG00000174697 ENSG00000174697 HGNC:6553 LEPR gene LEPR BabySeq Category A gene;Expert Review Green BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal Obesity, morbid, due to leptin receptor deficiency (MIM#614963) 33137293 False 3 100;0;0 1.116 True ENSG00000116678 ENSG00000116678 HGNC:6554 LHFPL5 gene LHFPL5 BabySeq Category A gene;Expert Review Green BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal Deafness, autosomal recessive 67, MIM# 610265 False 3 100;0;0 1.116 True ENSG00000197753 ENSG00000197753 HGNC:21253 LHX3 gene LHX3 BabySeq Category A gene;BeginNGS;Expert Review Green BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal Pituitary hormone deficiency, combined, MIM#221750 False 3 100;0;0 1.116 True ENSG00000107187 ENSG00000107187 HGNC:6595 LHX4 gene LHX4 BeginNGS;Expert Review Green BabyScreen+ newborn screening Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted "Pituitary hormone deficiency, combined, 4, MIM# 262700" False 3 100;0;0 1.116 True ENSG00000121454 ENSG00000121454 HGNC:21734 LIG1 gene LIG1 Expert list;Expert Review Green BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal "Immunodeficiency 96, MIM# 619774" 30395541 False 3 100;0;0 1.116 True ENSG00000105486 ENSG00000105486 HGNC:6598 LIG4 gene LIG4 BabySeq Category A gene;Expert Review Green BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal LIG4 syndrome, MIM# 606593 16088910;9823897;10911993;15333585;9809069;12023982;11040211;15175260;19451691;17554302;11779494 False 3 100;0;0 1.116 True ENSG00000174405 ENSG00000174405 HGNC:6601 LIPA gene LIPA BabySeq Category A gene;BeginNGS;Expert Review Green BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal Wolman syndrome, MIM#278000 False 3 100;0;0 1.116 True ENSG00000107798 ENSG00000107798 HGNC:6617 LMBRD1 gene LMBRD1 BabySeq Category A gene;BeginNGS;Expert Review Green BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal Methylmalonic aciduria and homocystinuria, MIM#277380 False 3 100;0;0 1.116 True ENSG00000168216 ENSG00000168216 HGNC:23038 LOXHD1 gene LOXHD1 BabySeq Category A gene;Expert Review Green BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal Deafness, autosomal recessive 77, MIM# 613079 False 3 100;0;0 1.116 True ENSG00000167210 ENSG00000167210 HGNC:26521 LPL gene LPL Expert list;Expert Review Green BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal Lipoprotein lipase deficiency, MIM# 238600 False 3 100;0;0 1.116 True ENSG00000175445 ENSG00000175445 HGNC:6677 LRBA gene LRBA Expert list;Expert Review Green BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal Immunodeficiency, common variable, 8, with autoimmunity MIM# 614700 22608502;22721650;25468195;26206937;33155142;31887391 False 3 100;0;0 1.116 True ENSG00000198589 ENSG00000198589 HGNC:1742 LRP5 gene LRP5 BabySeq Category A gene;Expert Review Green BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal Osteoporosis-pseudoglioma syndrome, MIM# 259770 False 3 100;0;0 1.116 True ENSG00000162337 ENSG00000162337 HGNC:6697 LRTOMT gene LRTOMT BabySeq Category A gene;Expert Review Green BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal Deafness, autosomal recessive 63, MIM# 611451 False 3 100;0;0 1.116 True ENSG00000184154 ENSG00000184154 HGNC:25033 LYST gene LYST BabySeq Category A gene;BeginNGS;Expert Review Green BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal Chediak-Higashi syndrome, MIM#214500 False 3 100;0;0 1.116 True ENSG00000143669 ENSG00000143669 HGNC:1968 MAFB gene MAFB BabySeq Category A gene;Expert Review Green BabyScreen+ newborn screening Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Multicentric carpotarsal osteolysis syndrome (MIM#166300) 33975323 False 3 100;0;0 1.116 True ENSG00000204103 ENSG00000204103 HGNC:6408 MAGT1 gene MAGT1 Expert list;Expert Review Green BabyScreen+ newborn screening Screening X-LINKED: hemizygous mutation in males, biallelic mutations in females Immunodeficiency, X-linked, with magnesium defect, Epstein-Barr virus infection and neoplasia (MIM# 300853) 31036665;31714901 False 3 100;0;0 1.116 True ENSG00000102158 ENSG00000102158 HGNC:28880 MALT1 gene MALT1 Expert list;Expert Review Green BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal Immunodeficiency 12 MIM# 615468 False 3 100;0;0 1.116 True ENSG00000172175 ENSG00000172175 HGNC:6819 MAN2B1 gene MAN2B1 BabySeq Category A gene;Expert Review Green BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal Mannosidosis, alpha-, types I and II, MIM# 248500 False 3 100;0;0 1.116 True ENSG00000104774 ENSG00000104774 HGNC:6826 MARVELD2 gene MARVELD2 BabySeq Category A gene;Expert Review Green BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal Deafness, autosomal recessive 49, MIM# 610153 False 3 100;0;0 1.116 True ENSG00000152939 ENSG00000152939 HGNC:26401 MC2R gene MC2R BeginNGS;Expert Review Green BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal "Glucocorticoid deficiency, due to ACTH unresponsiveness, MIM# 202200" False 3 100;0;0 1.116 True ENSG00000185231 ENSG00000185231 HGNC:6930 MCEE gene MCEE BabySeq Category C gene;Expert Review Green BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal Methylmalonyl-CoA epimerase deficiency MIM#251120 False 3 100;0;0 1.116 True ENSG00000124370 ENSG00000124370 HGNC:16732 MEFV gene MEFV BabySeq Category A gene;Expert Review Green BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal Familial Mediterranean fever MIM# 249100 False 3 100;0;0 1.116 True ENSG00000103313 ENSG00000103313 HGNC:6998 MESD gene MESD Expert Review;Expert Review Green BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal "Osteogenesis imperfecta, type XX, MIM# 618644" 31564437;35092157;33596325;31564437 False 3 100;0;0 1.116 True ENSG00000117899 ENSG00000117899 HGNC:13520 MITF gene MITF BabySeq Category A gene;Expert Review Green BabyScreen+ newborn screening Screening BOTH monoallelic and biallelic, autosomal or pseudoautosomal Waardenburg syndrome, type 2A, MIM# 193510;Deafness False 3 100;0;0 1.116 True ENSG00000187098 ENSG00000187098 HGNC:7105 MLH1 gene MLH1 BabySeq Category C gene;Expert Review Green BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal Mismatch repair cancer syndrome 1, MIM# 276300 False 3 100;0;0 1.116 True ENSG00000076242 ENSG00000076242 HGNC:7127 MLYCD gene MLYCD BabySeq Category A gene;Expert Review Green BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal Malonyl-CoA decarboxylase deficiency, MIM# 248360 False 3 100;0;0 1.116 True ENSG00000103150 ENSG00000103150 HGNC:7150 MMAA gene MMAA BabySeq Category A gene;BeginNGS;Expert Review Green BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal Methylmalonic aciduria, vitamin B12-responsive, MIM#251100 False 3 100;0;0 1.116 True ENSG00000151611 ENSG00000151611 HGNC:18871 MMAB gene MMAB BabySeq Category A gene;BeginNGS;Expert Review Green BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal Methylmalonic aciduria, vitamin B12-responsive, due to defect in synthesis of adenosylcobalamin, cblB complementation type, MIM#251110 False 3 100;0;0 1.116 True ENSG00000139428 ENSG00000139428 HGNC:19331 MMACHC gene MMACHC BabySeq Category A gene;BeginNGS;Expert Review Green BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal Methylmalonic aciduria and homocystinuria, cblC type, MIM#277400 False 3 100;0;0 1.116 True ENSG00000132763 ENSG00000132763 HGNC:24525 MMADHC gene MMADHC BabySeq Category A gene;BeginNGS;Expert Review Green BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal Methylmalonic aciduria and homocystinuria, cblD type, MIM#277410 False 3 100;0;0 1.116 True ENSG00000168288 ENSG00000168288 HGNC:25221 MNX1 gene MNX1 Expert list;Expert Review Green BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal Permanent neonatal diabetes mellitus, MONDO:0100164, MNX1-related 36586106 False 3 100;0;0 1.116 True ENSG00000130675 ENSG00000130675 HGNC:4979 MOCS1 gene MOCS1 BabySeq Category A gene;BeginNGS;Expert Review Green BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal Molybdenum cofactor deficiency, MIM#252150 20385644;26343839 False 3 100;0;0 1.116 True ENSG00000124615 ENSG00000124615 HGNC:7190 MPI gene MPI BabySeq Category A gene;Expert Review Green BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal Congenital disorder of glycosylation, type Ib, MIM# 602579 32266963;19101627 False 3 100;0;0 1.116 True ENSG00000178802 ENSG00000178802 HGNC:7216 MPL gene MPL BabySeq Category A gene;Expert Review Green BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal Thrombocytopenia, congenital amegakaryocytic, MIM# 604498 32703794 False 3 100;0;0 1.116 True ENSG00000117400 ENSG00000117400 HGNC:7217 MRAP gene MRAP BeginNGS;Expert Review Green BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal "Glucocorticoid deficiency 2, MIM# 607398" False 3 100;0;0 1.116 True ENSG00000170262 ENSG00000170262 HGNC:1304 MSH2 gene MSH2 BabySeq Category C gene;Expert Review Green BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal Mismatch repair cancer syndrome 2, MIM# 619096 False 3 100;0;0 1.116 True ENSG00000095002 ENSG00000095002 HGNC:7325 MSH6 gene MSH6 BabySeq Category C gene;Expert Review Green BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal Mismatch repair cancer syndrome 3, MIM# 619097 False 3 100;0;0 1.116 True ENSG00000116062 ENSG00000116062 HGNC:7329 MTHFD1 gene MTHFD1 Expert list;Expert Review Green BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal Combined immunodeficiency and megaloblastic anemia with or without hyperhomocysteinaemia MIM # 617780 32414565;19033438 False 3 100;0;0 1.116 True ENSG00000100714 ENSG00000100714 HGNC:7432 MTR gene MTR BabySeq Category A gene;BeginNGS;Expert Review Green BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal Homocystinuria-megaloblastic anaemia, cblG complementation type, MIM# 250940 25526710 False 3 100;0;0 1.116 True ENSG00000116984 ENSG00000116984 HGNC:7468 MT-RNR1 gene MT-RNR1 Expert Review;Expert Review Green BabyScreen+ newborn screening Screening MITOCHONDRIAL Aminoglycoside sensitivity False 3 100;0;0 1.116 True ENSG00000211459 ENSG00000211459 HGNC:7470 MTRR gene MTRR BabySeq Category A gene;BeginNGS;Expert Review Green BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal Methylmalonic aciduria and homocystinuria, MIM#236270 25526710 False 3 100;0;0 1.116 True ENSG00000124275 ENSG00000124275 HGNC:7473 MTTP gene MTTP BabySeq Category A gene;Expert Review Green BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal Abetalipoproteinemia, MIM# 200100 False 3 100;0;0 1.116 True ENSG00000138823 ENSG00000138823 HGNC:7467 MUSK gene MUSK BeginNGS:BabySeq Category A gene;Expert Review Green BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal Congenital myasthenic syndrome, MIM#616325 False 3 100;0;0 1.116 True ENSG00000030304 ENSG00000030304 HGNC:7525 MUT gene MUT BabySeq Category A gene;BeginNGS;Expert Review Green BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal "Methylmalonic aciduria, mut(0) type, MIM# 251000" False 3 100;0;0 1.116 True ENSG00000146085 ENSG00000146085 HGNC:7526 MVK gene MVK BabySeq Category A gene;BeginNGS;Expert Review Green BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal Mevalonic aciduria, MIM# 610377 32066461 False 3 100;0;0 1.116 True ENSG00000110921 ENSG00000110921 HGNC:7530 MYD88 gene MYD88 Expert list;Expert Review Green BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal Immunodeficiency 68, MIM# 612260 18669862;20538326;31301515 False 3 100;0;0 1.116 True ENSG00000172936 ENSG00000172936 HGNC:7562 MYH7 gene MYH7 BabySeq Category A gene;BabySeq Category B gene;BabySeq Category C gene;Expert Review Green BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal Cardiomyopathy, hypertrophic, 1, MIM# 192600 False 3 50;0;50 1.116 True ENSG00000092054 ENSG00000092054 HGNC:7577 MYO15A gene MYO15A BabySeq Category A gene;Expert Review Green BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal Deafness, autosomal recessive 3, MIM# 600316 False 3 100;0;0 1.116 True ENSG00000091536 ENSG00000091536 HGNC:7594 MYO3A gene MYO3A BabySeq Category A gene;Expert Review Green BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal Deafness, autosomal recessive 30, MIM:607101 False 3 50;0;50 1.116 True ENSG00000095777 ENSG00000095777 HGNC:7601 MYO6 gene MYO6 BabySeq Category A gene;Expert Review Green BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal Deafness, autosomal recessive 37, MIM# 607821 False 3 100;0;0 1.116 True ENSG00000196586 ENSG00000196586 HGNC:7605 MYO7A gene MYO7A BabySeq Category A gene;Expert Review Green BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal Deafness, autosomal recessive 2, 600060;Usher syndrome, type 1B, MIM# 276900 False 3 100;0;0 1.116 True ENSG00000137474 ENSG00000137474 HGNC:7606 MYSM1 gene MYSM1 BeginNGS;Expert Review Green BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal "Bone marrow failure syndrome 4, MIM# 618116" False 3 100;0;0 1.116 True ENSG00000162601 ENSG00000162601 HGNC:29401 NAGLU gene NAGLU BabySeq Category A gene;Expert Review Green BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal Mucopolysaccharidosis type IIIB (Sanfilippo B), MIM# 252920 False 3 100;0;0 1.116 True ENSG00000108784 ENSG00000108784 HGNC:7632 NAGS gene NAGS BabySeq Category A gene;BeginNGS;Expert Review Green BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal N-acetylglutamate synthetase deficiency, MIM#237310 False 3 100;0;0 1.116 True ENSG00000161653 ENSG00000161653 HGNC:17996 NCF2 gene NCF2 BabySeq Category A gene;BeginNGS;Expert Review Green BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal Chronic granulomatous disease, MIM#233710 27178966 False 3 100;0;0 1.116 True ENSG00000116701 ENSG00000116701 HGNC:7661 NCF4 gene NCF4 BabySeq Category C gene;BeginNGS;Expert Review Green BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type III MIM#613960 False 3 100;0;0 1.116 True ENSG00000100365 ENSG00000100365 HGNC:7662 NEUROG3 gene NEUROG3 BabySeq Category C gene;BeginNGS;Expert Review Green BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal Diarrhoea 4, malabsorptive, congenital, MIM# 610370 32574610;16855267;21490072;28724572 False 3 100;0;0 1.116 True ENSG00000122859 ENSG00000122859 HGNC:13806 NFKBIA gene NFKBIA Expert list;Expert Review Green BabyScreen+ newborn screening Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Ectodermal dysplasia and immunodeficiency 2 MIM# 612132 False 3 100;0;0 1.116 True ENSG00000100906 ENSG00000100906 HGNC:7797 NHEJ1 gene NHEJ1 BabySeq Category A gene;BeginNGS;Expert Review Green BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal Severe combined immunodeficiency with microcephaly, growth retardation, and sensitivity to ionizing radiation, MIM#611291 False 3 100;0;0 1.116 True ENSG00000187736 ENSG00000187736 HGNC:25737 NIPAL4 gene NIPAL4 BabySeq Category A gene;Expert Review Green BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal Ichthyosis, congenital, autosomal recessive 6, MIM# 612281 31532840 False 3 100;0;0 1.116 True ENSG00000172548 ENSG00000172548 HGNC:28018 NKX2-1 gene NKX2-1 BabySeq Category A gene;Expert Review Green BabyScreen+ newborn screening Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Choreoathetosis, hypothyroidism, and neonatal respiratory distress MIM#610978 False 3 100;0;0 1.116 True ENSG00000136352 ENSG00000136352 HGNC:11825 NKX2-5 gene NKX2-5 BabySeq Category B gene;Expert Review Green BabyScreen+ newborn screening Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted "Atrial septal defect 7, with or without AV conduction defects, MIM# 108900" False 3 100;0;0 1.116 True ENSG00000183072 ENSG00000183072 HGNC:2488 NNT gene NNT BeginNGS;Expert Review Green BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal "Glucocorticoid deficiency 4, with or without mineralocorticoid deficiency, MIM# 614736" 26548497 False 3 100;0;0 1.116 True ENSG00000112992 ENSG00000112992 HGNC:7863 NPC1 gene NPC1 BabySeq Category A gene;BeginNGS;Expert Review Green BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal Niemann-Pick disease type C1, MIM#257220 29625568 False 3 100;0;0 1.116 True ENSG00000141458 ENSG00000141458 HGNC:7897 NPC2 gene NPC2 BabySeq Category A gene;BeginNGS;Expert Review Green BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal Niemann-Pick disease type C2, MIM#607625 29625568 False 3 100;0;0 1.116 True ENSG00000119655 ENSG00000119655 HGNC:14537 NR0B1 gene NR0B1 BabySeq Category A gene;Expert Review Green BabyScreen+ newborn screening Screening X-LINKED: hemizygous mutation in males, biallelic mutations in females Adrenal hypoplasia, congenital (MIM# 300200) False 3 100;0;0 1.116 True ENSG00000169297 ENSG00000169297 HGNC:7960 NR3C2 gene NR3C2 BeginNGS;Expert Review Green BabyScreen+ newborn screening Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted "Pseudohypoaldosteronism type I, autosomal dominant , MIM#177735" False 3 100;0;0 1.116 True ENSG00000151623 ENSG00000151623 HGNC:7979 NR5A1 gene NR5A1 BeginNGS;Expert Review Green BabyScreen+ newborn screening Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Adrenocortical insufficiency, (MIM#612964) False 3 100;0;0 1.116 True ENSG00000136931 ENSG00000136931 HGNC:7983 OAS1 gene OAS1 Expert list;Expert Review Green BabyScreen+ newborn screening Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Immunodeficiency 100 with pulmonary alveolar proteinosis and hypogammaglobulinaemia, MIM#618042 34145065;29455859 False 3 100;0;0 1.116 True ENSG00000089127 ENSG00000089127 HGNC:8086 OAT gene OAT ClinGen;Expert Review Green BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal Gyrate atrophy of choroid and retina with or without ornithinemia MIM#258870 False 3 100;0;0 1.116 True ENSG00000065154 ENSG00000065154 HGNC:8091 ORAI1 gene ORAI1 Expert Review;Expert Review Green BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal Immunodeficiency 9, MIM# 612782 False 3 100;0;0 1.116 True ENSG00000182500 ENSG00000276045 HGNC:25896 OTC gene OTC BabySeq Category A gene;BeginNGS;Expert Review Green BabyScreen+ newborn screening Screening X-LINKED: hemizygous mutation in males, biallelic mutations in females Ornithine transcarbamylase deficiency, MIM#311250 False 3 100;0;0 1.116 True ENSG00000036473 ENSG00000036473 HGNC:8512 OTOA gene OTOA BabySeq Category A gene;Expert Review Green BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal Deafness, autosomal recessive 22, MIM#607039 False 3 100;0;0 1.116 True ENSG00000155719 ENSG00000155719 HGNC:16378 OTOF gene OTOF BabySeq Category A gene;Expert Review Green BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal Deafness, autosomal recessive 9, MIM#601071 False 3 100;0;0 1.116 True ENSG00000115155 ENSG00000115155 HGNC:8515 OTOG gene OTOG BabySeq Category C gene;Expert Review Green BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal Deafness, autosomal recessive 18B - MIM#614945 False 3 100;0;0 1.116 True ENSG00000188162 ENSG00000188162 HGNC:8516 OTOGL gene OTOGL BabySeq Category A gene;Expert Review Green BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal Deafness, autosomal recessive 84B, MIM# 614944 False 3 100;0;0 1.116 True ENSG00000165899 ENSG00000165899 HGNC:26901 OTULIN gene OTULIN Expert list;Expert Review Green BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal Autoinflammation, panniculitis, and dermatosis syndrome, MIM# 617099 False 3 100;0;0 1.116 True ENSG00000154124 ENSG00000154124 HGNC:25118 OTX2 gene OTX2 Expert list;Expert Review Green BabyScreen+ newborn screening Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Pituitary hormone deficiency, combined, 6, MIM# 613986 18728160;35320640;33950863 False 3 100;0;0 1.116 True ENSG00000165588 ENSG00000165588 HGNC:8522 OXCT1 gene OXCT1 BeginNGS;Expert Review Green BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal "Succinyl CoA:3-oxoacid CoA transferase deficiency, MIM# 245050" False 3 100;0;0 1.116 True ENSG00000083720 ENSG00000083720 HGNC:8527 P3H1 gene P3H1 Expert Review;Expert Review Green BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal Osteogenesis imperfecta, type VIII, (MIM# 610915) 17277775;18566967 False 3 100;0;0 1.116 True ENSG00000117385 ENSG00000117385 HGNC:19316 PAH gene PAH BabySeq Category A gene;BeginNGS;Expert Review Green BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal Phenylketonuria, MIM#261600 False 3 100;0;0 1.116 True ENSG00000171759 ENSG00000171759 HGNC:8582 PALB2 gene PALB2 BabySeq Category C gene;Expert Review Green BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal Fanconi anemia, complementation group N, MIM# 610832 17200671 False 3 50;50;0 1.116 True ENSG00000083093 ENSG00000083093 HGNC:26144 PAX3 gene PAX3 BabySeq Category A gene;Expert Review Green BabyScreen+ newborn screening Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Waardenburg syndrome, type 1, OMIM 193500 False 3 100;0;0 1.116 True ENSG00000135903 ENSG00000135903 HGNC:8617 PAX8 gene PAX8 BabySeq Category A gene;Expert Review Green BabyScreen+ newborn screening Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted "Hypothyroidism, congenital, due to thyroid dysgenesis or hypoplasia, MIM# 218700" 33272083 False 3 100;0;0 1.116 True ENSG00000125618 ENSG00000125618 HGNC:8622 PC gene PC BabySeq Category A gene;Expert Review Green BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal Pyruvate carboxylase deficiency, MIM# 266150 20301764 False 3 100;0;0 1.116 True ENSG00000173599 ENSG00000173599 HGNC:8636 PCBD1 gene PCBD1 BeginNGS;Expert Review Green BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal "Hyperphenylalaninemia, BH4-deficient, D, MIM# 264070" False 3 100;0;0 1.116 True ENSG00000166228 ENSG00000166228 HGNC:8646 PCCA gene PCCA BabySeq Category A gene;BeginNGS;Expert Review Green BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal Propionic acidaemia, MIM#606054 False 3 100;0;0 1.116 True ENSG00000175198 ENSG00000175198 HGNC:8653 PCCB gene PCCB BabySeq Category A gene;Expert Review Green BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal Propionicacidaemia, MIM#606054 False 3 100;0;0 1.116 True ENSG00000114054 ENSG00000114054 HGNC:8654 PCDH15 gene PCDH15 BabySeq Category A gene;Expert Review Green BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal Usher syndrome, type 1F 602083, Deafness, autosomal recessive 23 609533 False 3 100;0;0 1.116 True ENSG00000150275 ENSG00000150275 HGNC:14674 PCSK9 gene PCSK9 BabySeq Category B gene;Expert Review Green BabyScreen+ newborn screening Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Hypercholesterolaemia, familial, 3, MIM# 603776 False 3 100;0;0 1.116 True ENSG00000169174 ENSG00000169174 HGNC:20001 PDHA1 gene PDHA1 BabySeq Category A gene;Expert Review Green BabyScreen+ newborn screening Screening X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Pyruvate dehydrogenase E1-alpha deficiency, MIM# 312170 False 3 100;0;0 1.116 True ENSG00000131828 ENSG00000131828 HGNC:8806 PDHB gene PDHB Expert Review;Expert Review Green BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal "Pyruvate dehydrogenase E1-beta deficiency, MIM# 614111" False 3 100;0;0 1.116 True ENSG00000168291 ENSG00000168291 HGNC:8808 PDHX gene PDHX BabySeq Category A gene;Expert Review Green BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal Lactic acidaemia due to PDX1 deficiency, MIM# 245349 20002125;33092611 False 3 100;0;0 1.116 True ENSG00000110435 ENSG00000110435 HGNC:21350 PDP1 gene PDP1 BabySeq Category C gene;Expert Review Green BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal Pyruvate dehydrogenase phosphatase deficiency, MIM# 608782 False 3 100;0;0 1.116 True ENSG00000164951 ENSG00000164951 HGNC:9279 PDX1 gene PDX1 Expert list;Expert Review Green BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal Pancreatic agenesis, MIM# # 260370 False 3 100;0;0 1.116 True ENSG00000139515 ENSG00000139515 HGNC:6107 PDZD7 gene PDZD7 BabySeq Category A gene;Expert Review Green BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal Deafness, autosomal recessive 57, MIM# 618003;Usher syndrome, type IIC, GPR98/PDZD7 digenic, MIM# 605472 False 3 100;0;0 1.116 True ENSG00000186862 ENSG00000186862 HGNC:26257 PGM1 gene PGM1 BeginNGS;Expert Review Green BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal "Congenital disorder of glycosylation, type It, MIM# 614921" False 3 100;0;0 1.116 True ENSG00000079739 ENSG00000079739 HGNC:8905 PGM3 gene PGM3 BeginNGS;Expert Review Green BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal "Immunodeficiency 23, MIM# 615816" False 3 100;0;0 1.116 True ENSG00000013375 ENSG00000013375 HGNC:8907 PHEX gene PHEX BeginNGS;Expert Review Green BabyScreen+ newborn screening Screening X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) "Hypophosphatemic rickets, X-linked dominant, MIM# 307800" 29791829 False 3 100;0;0 1.116 True ENSG00000102174 ENSG00000102174 HGNC:8918 PHGDH gene PHGDH BeginNGS;Expert Review Green BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal "Phosphoglycerate dehydrogenase deficiency, MIM# 601815" False 3 100;0;0 1.116 True ENSG00000092621 ENSG00000092621 HGNC:8923 PHKA2 gene PHKA2 BabySeq Category A gene;Expert Review Green BabyScreen+ newborn screening Screening X-LINKED: hemizygous mutation in males, biallelic mutations in females Glycogen storage disease, type IXa1 and a2, MIM# 306000 30659246 False 3 100;0;0 1.116 True ENSG00000044446 ENSG00000044446 HGNC:8926 PHKB gene PHKB BabySeq Category A gene;Expert Review Green BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal Phosphorylase kinase deficiency of liver and muscle, autosomal recessive 261750;Glycogen storage disease IXb, MONDO:0009868 False 3 100;0;0 1.116 True ENSG00000102893 ENSG00000102893 HGNC:8927 PHKG2 gene PHKG2 BabySeq Category A gene;Expert Review Green BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal Glycogen storage disease IXc, MIM# 613027 False 3 100;0;0 1.116 True ENSG00000156873 ENSG00000156873 HGNC:8931 PIK3CD gene PIK3CD Expert list;Expert Review Green BabyScreen+ newborn screening Screening BOTH monoallelic and biallelic, autosomal or pseudoautosomal Immunodeficiency 14B, autosomal recessive, MIM# 619281;Immunodeficiency 14A, autosomal dominant, MIM# 615513 30911953;31111319;34033842;30040974;30336224;29180244;16984281;24136356;24165795;24610295 False 3 100;0;0 1.116 True ENSG00000171608 ENSG00000171608 HGNC:8977 PIK3R1 gene PIK3R1 BeginNGS;Expert Review Green BabyScreen+ newborn screening Screening BOTH monoallelic and biallelic, autosomal or pseudoautosomal "Agammaglobulinemia 7, autosomal recessive, MIM# 615214;Immunodeficiency 36, MIM# 616005" 31111319;33401995;34033842 False 3 100;0;0 1.116 True ENSG00000145675 ENSG00000145675 HGNC:8979 PKLR gene PKLR BabySeq Category A gene;BeginNGS;Expert Review Green BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal Pyruvate kinase deficiency, MIM#266200 32702739 False 3 100;0;0 1.116 True ENSG00000143627 ENSG00000143627 HGNC:9020 PLG gene PLG BabySeq Category A gene;Expert Review Green BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal Plasminogen deficiency, type I, MIM# 217090 29548426;28795768;10233898;9242524;29987869;21174000 False 3 100;0;0 1.116 True ENSG00000122194 ENSG00000122194 HGNC:9071 PLPBP gene PLPBP BeginNGS;Expert Review Green BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal "Epilepsy, early-onset, vitamin B6-dependent , MIM#617290" 30668673 False 3 100;0;0 1.116 True ENSG00000147471 ENSG00000147471 HGNC:9457 PLS3 gene PLS3 Expert list;Expert Review Green BabyScreen+ newborn screening Screening X-LINKED: hemizygous mutation in males, biallelic mutations in females Bone mineral density QTL18, osteoporosis - MIM#300910 32655496;25209159;29736964;29884797;28777485;24088043 False 3 100;0;0 1.116 True ENSG00000102024 ENSG00000102024 HGNC:9091 PNP gene PNP Expert list;Expert Review Green BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal Immunodeficiency due to purine nucleoside phosphorylase deficiency MIM#613179 PMID: 35968787, PMID: 35063692, PMID: 30885031, PMID: 1931007, PMID: 28674683 False 3 100;0;0 1.116 True ENSG00000198805 ENSG00000198805 HGNC:7892 PNPO gene PNPO BabySeq Category A gene;BeginNGS;Expert Review Green BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal Pyridoxamine 5'-phosphate oxidase deficiency, MIM# 610090 34769443;32888189 False 3 100;0;0 1.116 True ENSG00000108439 ENSG00000108439 HGNC:30260 POLE gene POLE Expert list;Expert Review Green BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal "IMAGE-I syndrome, MIM# 618336" False 3 100;0;0 1.116 True ENSG00000177084 ENSG00000177084 HGNC:9177 POMC gene POMC BabySeq Category C gene;Expert Review Green BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal Obesity, adrenal insufficiency, and red hair due to POMC deficiency MIM#609734 False 3 100;0;0 1.116 True ENSG00000115138 ENSG00000115138 HGNC:9201 POR gene POR BabySeq Category A gene;Expert Review Green BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis, MIM#201750;Disordered steroidogenesis due to cytochrome P450 oxidoreductase, MIM# 613571 False 3 100;0;0 1.116 True ENSG00000127948 ENSG00000127948 HGNC:9208 POU1F1 gene POU1F1 BabySeq Category A gene;BeginNGS;Expert Review Green BabyScreen+ newborn screening Screening BOTH monoallelic and biallelic, autosomal or pseudoautosomal Pituitary hormone deficiency, combined, 1 MIM# 613038 False 3 100;0;0 1.116 True ENSG00000064835 ENSG00000064835 HGNC:9210 POU3F4 gene POU3F4 BabySeq Category A gene;Expert Review Green BabyScreen+ newborn screening Screening X-LINKED: hemizygous mutation in males, biallelic mutations in females Deafness, X-linked 2, MIM#304400 False 3 100;0;0 1.116 True ENSG00000196767 ENSG00000196767 HGNC:9217 PPOX gene PPOX BabySeq Category C gene;Expert Review Green BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal Variegate porphyria, childhood-onset, MIM# 620483 False 3 100;0;0 1.116 True ENSG00000143224 ENSG00000143224 HGNC:9280 PRDX1 gene PRDX1 Expert list;Expert Review Green BabyScreen+ newborn screening Screening Other Methylmalonic aciduria and homocystinuria, cblC type, digenic MIM#277400 PMID: 20301503, PMID: 29396438, PMID: 34215320, PMID: 33982424 False 3 100;0;0 1.116 True ENSG00000117450 ENSG00000117450 HGNC:9352 PRF1 gene PRF1 BabySeq Category A gene;BeginNGS;Expert Review Green BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal Haemophagocytic lymphohistiocytosis, familial, 2, MIM#603553 False 3 100;0;0 1.116 True ENSG00000180644 ENSG00000180644 HGNC:9360 PRKAR1A gene PRKAR1A BabySeq Category A gene;Expert Review Green BabyScreen+ newborn screening Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Carney complex, type 1, MIM# 160980 False 3 100;0;0 1.116 True ENSG00000108946 ENSG00000108946 HGNC:9388 PRKDC gene PRKDC BeginNGS;Expert Review Green BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal "Immunodeficiency 26, with or without neurologic abnormalities, MIM# 615966" False 3 100;0;0 1.116 True ENSG00000253729 ENSG00000253729 HGNC:9413 PROP1 gene PROP1 BabySeq Category A gene;BeginNGS;Expert Review Green BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal Pituitary hormone deficiency, combined, 2, MIM#262600 False 3 100;0;0 1.116 True ENSG00000175325 ENSG00000175325 HGNC:9455 PSTPIP1 gene PSTPIP1 Expert list;Expert Review Green BabyScreen+ newborn screening Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Autoinflammatory syndrome with cytopenia, hyperzincemia, and hypercalprotectinemia, MIMM# 601979;Pyogenic sterile arthritis, pyoderma gangrenosum, and acne, MIM# 604416 False 3 100;0;0 1.116 True ENSG00000140368 ENSG00000140368 HGNC:9580 PTCH1 gene PTCH1 BabySeq Category A gene;Expert Review Green BabyScreen+ newborn screening Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Basal cell nevus syndrome, MIM# 109400 False 3 0;100;0 1.116 True ENSG00000185920 ENSG00000185920 HGNC:9585 PTF1A gene PTF1A BeginNGS;Expert Review Green BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal "Pancreatic and cerebellar agenesis, MIM# 609069;Pancreatic agenesis 2, MIM# 615935" False 3 100;0;0 1.116 True ENSG00000168267 ENSG00000168267 HGNC:23734 PTPRC gene PTPRC Expert list;Expert Review Green BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal Severe combined immunodeficiency, T cell-negative, B-cell/natural killer-cell positive MIM# 608971 False 3 100;0;0 1.116 True ENSG00000081237 ENSG00000081237 HGNC:9666 PTPRQ gene PTPRQ ClinGen;Expert Review Green BabyScreen+ newborn screening Screening BOTH monoallelic and biallelic, autosomal or pseudoautosomal Deafness, autosomal recessive 84A, MIM# 613391;Deafness, autosomal dominant 73, MIM# 617663 False 3 100;0;0 1.116 True ENSG00000139304 ENSG00000139304 HGNC:9679 PTS gene PTS BabySeq Category A gene;BeginNGS;Expert Review Green BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal Hyperphenylalaninemia, BH4-deficient, A, MIM#261640 False 3 100;0;0 1.116 True ENSG00000150787 ENSG00000150787 HGNC:9689 PYGL gene PYGL BabySeq Category A gene;Expert Review Green BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal Glycogen storage disease VI, MIM# 232700 False 3 100;0;0 1.116 True ENSG00000100504 ENSG00000100504 HGNC:9725 QDPR gene QDPR BabySeq Category A gene;BeginNGS;Expert Review Green BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal Dihydropteridine reductase deficiency, MIM#261630 False 3 100;0;0 1.116 True ENSG00000151552 ENSG00000151552 HGNC:9752 RAB27A gene RAB27A BabySeq Category A gene;BeginNGS;Expert Review Green BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal Griscelli syndrome, MIM#607624 32374962;32107531 False 3 100;0;0 1.116 True ENSG00000069974 ENSG00000069974 HGNC:9766 RAC2 gene RAC2 Expert list;Expert Review Green BabyScreen+ newborn screening Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Immunodeficiency 73B with defective neutrophil chemotaxis and lymphopenia MIM# 618986 False 3 100;0;0 1.116 True ENSG00000128340 ENSG00000128340 HGNC:9802 RAG1 gene RAG1 BabySeq Category A gene;BeginNGS;Expert Review Green BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal Alpha/beta T-cell lymphopenia with gamma/delta T-cell expansion, severe cytomegalovirus infection, and autoimmunity MIM# 609889;Combined cellular and humoral immune defects with granulomas MIM# 233650;Omenn syndrome MIM# 603554;Severe combined immunodeficiency, B cell-negative MIM# 601457 False 3 100;0;0 1.116 True ENSG00000166349 ENSG00000166349 HGNC:9831 RAG2 gene RAG2 BabySeq Category A gene;BEginNGS;Expert Review Green BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal Omenn syndrome MIM# 603554;Severe combined immunodeficiency, B cell-negative MIM# 601457;Combined cellular and humoral immune defects with granulomas MIM# 233650 False 3 100;0;0 1.116 True ENSG00000175097 ENSG00000175097 HGNC:9832 RAPSN gene RAPSN BabySeq Category A gene;BeginNGS;Expert Review Green BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal Myasthenic syndrome, congenital, 11, associated with acetylcholine receptor deficiency (MIM#616326) False 3 100;0;0 1.116 True ENSG00000165917 ENSG00000165917 HGNC:9863 RASGRP1 gene RASGRP1 Expert Review Green;Literature BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal Immunodeficiency 64 (MIM#618534) False 3 100;0;0 1.116 True ENSG00000172575 ENSG00000172575 HGNC:9878 RB1 gene RB1 BabySeq Category A gene;Expert Review Green BabyScreen+ newborn screening Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Retinoblastoma, MIM# 180200 False 3 100;0;0 1.116 True ENSG00000139687 ENSG00000139687 HGNC:9884 RDX gene RDX BabySeq Category C gene;Expert Review Green BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal Deafness, autosomal recessive 24, MIM# 611022 19215054;22567349;15314067;26226137;17226784 False 3 100;0;0 1.116 True ENSG00000137710 ENSG00000137710 HGNC:9944 REST gene REST Expert list;Expert Review Green BabyScreen+ newborn screening Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted {Wilms tumor 6, susceptibility to}, MIM# 616806 26551668;34308104 False 3 100;0;0 1.116 True ENSG00000084093 ENSG00000084093 HGNC:9966 RET gene RET BabySeq Category A gene;Expert Review Green BabyScreen+ newborn screening Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Multiple endocrine neoplasia IIB;Multiple endocrine neoplasia IIA False 3 100;0;0 1.116 True ENSG00000165731 ENSG00000165731 HGNC:9967 RFX5 gene RFX5 Expert Review;Expert Review Green BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal Bare lymphocyte syndrome, type II, complementation group C MIM# 209920;Bare lymphocyte syndrome, type II, complementation group E MIM# 209920 False 3 100;0;0 1.116 True ENSG00000143390 ENSG00000143390 HGNC:9986 RFXANK gene RFXANK BeginNGS;Expert Review Green BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal "MHC class II deficiency, complementation group B , MIM#209920" False 3 100;0;0 1.116 True ENSG00000064490 ENSG00000064490 HGNC:9987 RFXAP gene RFXAP Expert Review;Expert Review Green BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal Bare lymphocyte syndrome, type II, complementation group D MIM# 209920 False 3 100;0;0 1.116 True ENSG00000133111 ENSG00000133111 HGNC:9988 RMRP gene RMRP BabySeq Category A gene;Expert Review Green BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal Cartilage-hair hypoplasia MIM#250250 False 3 100;0;0 1.116 True ENSG00000269900 ENSG00000269900 HGNC:10031 RNPC3 gene RNPC3 Expert list;Expert Review Green BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal Pituitary hormone deficiency, combined or isolated, 7, MIM# 618160 29866761;32462814;33650182 False 3 100;0;0 1.116 True ENSG00000185946 ENSG00000185946 HGNC:18666 RPE65 gene RPE65 ClinGen;Expert Review Green BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal Leber congenital amaurosis 2 MIM#204100;Retinitis pigmentosa 20 MIM#613794 False 3 100;0;0 1.116 True ENSG00000116745 ENSG00000116745 HGNC:10294 RPL11 gene RPL11 BabySeq Category A gene;BeginNGS;Expert Review Green BabyScreen+ newborn screening Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Diamond-Blackfan anaemia, MIM#612562 False 3 100;0;0 1.116 True ENSG00000142676 ENSG00000142676 HGNC:10301 RPL15 gene RPL15 BeginNGS;Expert Review Green BabyScreen+ newborn screening Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted "Diamond-Blackfan anaemia 12 , MIM# 615550" False 3 100;0;0 1.116 True ENSG00000174748 ENSG00000174748 HGNC:10306 RPL35A gene RPL35A BabySeq Category C gene;BeginNGS;Expert Review Green BabyScreen+ newborn screening Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted "Diamond-Blackfan anaemia 5, MIM# 612528" 18535205;32241839 False 3 100;0;0 1.116 True ENSG00000182899 ENSG00000182899 HGNC:10345 RPL5 gene RPL5 BabySeq Category A gene;BeginNGS;Expert Review Green BabyScreen+ newborn screening Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Diamond-Blackfan anaemia, MIM#612561 False 3 100;0;0 1.116 True ENSG00000122406 ENSG00000122406 HGNC:10360 RPS10 gene RPS10 BabySeq Category C gene;BeginNGS;Expert Review Green BabyScreen+ newborn screening Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted "Diamond-Blackfan anaemia 9, MIM# 613308" False 3 100;0;0 1.116 True ENSG00000124614 ENSG00000124614 HGNC:10383 RPS17 gene RPS17 BabySeq Category A gene;BeginNGS;Expert Review Green BabyScreen+ newborn screening Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Diamond-Blackfan anaemia, MIM#612527 False 3 100;0;0 1.116 True ENSG00000182774 ENSG00000182774 HGNC:10397 RPS19 gene RPS19 BabySeq Category A gene;BeginNGS;Expert Review Green BabyScreen+ newborn screening Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Diamond-Blackfan anaemia, MIM#105650 False 3 100;0;0 1.116 True ENSG00000105372 ENSG00000105372 HGNC:10402 RPS24 gene RPS24 BabySeq Category A gene;BeginNGS;Expert Review Green BabyScreen+ newborn screening Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Diamond-Blackfan anaemia, MIM#610629 False 3 100;0;0 1.116 True ENSG00000138326 ENSG00000138326 HGNC:10411 RPS26 gene RPS26 BabySeq Category A gene;BeginNGS;Expert Review Green BabyScreen+ newborn screening Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Diamond-Blackfan anaemia, MM#613309 False 3 100;0;0 1.116 True ENSG00000197728 ENSG00000197728 HGNC:10414 RPS7 gene RPS7 BabySeq Category C gene;BeginNGS;Expert Review Green BabyScreen+ newborn screening Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted "Diamond-Blackfan anaemia 8, MIM# 612563" 19061985;23718193;27882484;32772263 False 3 100;0;0 1.116 True ENSG00000171863 ENSG00000171863 HGNC:10440 RUNX1 gene RUNX1 ClinGen;Expert Review Green BabyScreen+ newborn screening Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Platelet disorder, familial, with associated myeloid malignancy, MIM# 601399 False 3 100;0;0 1.116 True ENSG00000159216 ENSG00000159216 HGNC:10471 RYR1 gene RYR1 BabySeq Category A gene;BabySeq Category B gene;BabySeq Category C gene;BeginNGS;Expert Review Green BabyScreen+ newborn screening Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted {Malignant hyperthermia susceptibility 1} MIM#145600 False 3 100;0;0 1.116 True ENSG00000196218 ENSG00000196218 HGNC:10483 RYR2 gene RYR2 BabySeq Category A gene;Expert Review Green BabyScreen+ newborn screening Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Arrhythmogenic right ventricular dysplasia 2;Ventricular tachycardia, catecholaminergic polymorphic False 3 100;0;0 1.116 True ENSG00000198626 ENSG00000198626 HGNC:10484 S1PR2 gene S1PR2 ClinGen;Expert Review Green BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal Deafness, autosomal recessive 68, MIM# 610419 False 3 100;0;0 1.116 True ENSG00000267534 ENSG00000267534 HGNC:3169 SAMD9 gene SAMD9 Expert list;Expert Review Green BabyScreen+ newborn screening Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted "MIRAGE syndrome, MIM# 617053" 31306780 False 3 100;0;0 1.116 True ENSG00000205413 ENSG00000205413 HGNC:1348 SAMD9L gene SAMD9L Expert list;Expert Review Green BabyScreen+ newborn screening Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Ataxia-pancytopenia syndrome, MIM# 159550 31306780 False 3 100;0;0 1.116 True ENSG00000177409 ENSG00000177409 HGNC:1349 SAR1B gene SAR1B Expert list;Expert Review Green BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal Chylomicron retention disease, MIM# 246700 False 3 100;0;0 1.116 True ENSG00000152700 ENSG00000152700 HGNC:10535 SBDS gene SBDS BabySeq Category A gene;Expert Review Green BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal Shwachman-Diamond syndrome, MIM# 260400 22191555;20301722 False 3 100;0;0 1.116 True ENSG00000126524 ENSG00000126524 HGNC:19440 SCNN1A gene SCNN1A BabySeq Category A gene;BeginNGS;Expert Review Green BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal Pseudohypoaldosteronism, type I, MIM# 264350 False 3 100;0;0 1.116 True ENSG00000111319 ENSG00000111319 HGNC:10599 SCNN1B gene SCNN1B BabySeq Category A gene;BabySeq Category C gene;BeginNGS;Expert Review Green BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal Pseudohypoaldosteronism, type I MIM# 264350 False 3 100;0;0 1.116 True ENSG00000168447 ENSG00000168447 HGNC:10600 SCNN1G gene SCNN1G BabySeq Category C gene;BeginNGS;Expert Review Green BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal "Pseudohypoaldosteronism, type I, MIM# 264350" False 3 100;0;0 1.116 True ENSG00000166828 ENSG00000166828 HGNC:10602 SERPINF1 gene SERPINF1 Expert list;Expert Review Green BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal Osteogenesis imperfecta, type VI, MIM# 613982 28689307 False 3 100;0;0 1.116 True ENSG00000132386 ENSG00000132386 HGNC:8824 SERPINH1 gene SERPINH1 Expert list;Expert Review Green BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal "Osteogenesis imperfecta, type X, MIM# 613848" 29520608;25510505;33524049 False 3 100;0;0 1.116 True ENSG00000149257 ENSG00000149257 HGNC:1546 SGPL1 gene SGPL1 Expert list;Expert Review Green BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal Nephrotic syndrome, type 14 MIM#617575 PMID: 28165343 False 3 50;0;50 1.116 True ENSG00000166224 ENSG00000166224 HGNC:10817 SH2D1A gene SH2D1A BabySeq Category A gene;BeginNGS;Expert Review Green BabyScreen+ newborn screening Screening X-LINKED: hemizygous mutation in males, biallelic mutations in females Lymphoproliferative syndrome, X-linked, 1, MIM# 308240 20301580 False 3 100;0;0 1.116 True ENSG00000183918 ENSG00000183918 HGNC:10820 SI gene SI BeginNGS;Expert Review Green BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal "Sucrase-isomaltase deficiency, congenital, MIM# 222900" False 3 100;0;0 1.116 True ENSG00000090402 ENSG00000090402 HGNC:10856 SLC12A1 gene SLC12A1 BabySeq Category A gene;Expert Review Green BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal Bartter syndrome, type 1, MIM# 601678 False 3 100;0;0 1.116 True ENSG00000074803 ENSG00000074803 HGNC:10910 SLC18A2 gene SLC18A2 BeginNGS;Expert Review Green BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal "Parkinsonism-dystonia, infantile, 2, MIM# 618049" False 3 100;0;0 1.116 True ENSG00000165646 ENSG00000165646 HGNC:10935 SLC18A3 gene SLC18A3 BeginNGS;Expert Review Green BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal "Myasthenic syndrome, congenital, 21, presynaptic, MIM# 617239" 20301347 False 3 100;0;0 1.116 True ENSG00000187714 ENSG00000187714 HGNC:10936 SLC19A2 gene SLC19A2 BabySeq Category A gene;Expert Review Green BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal Thiamine-responsive megaloblastic anemia syndrome, MIM# 249270 20301459 False 3 100;0;0 1.116 True ENSG00000117479 ENSG00000117479 HGNC:10938 SLC19A3 gene SLC19A3 BabySeq Category A gene;BeginNGS;Expert Review Green BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal Thiamine metabolism dysfunction syndrome 2 (biotin- or thiamine-responsive encephalopathy type 2), MIM# 607483 24260777 False 3 100;0;0 1.116 True ENSG00000135917 ENSG00000135917 HGNC:16266 SLC22A5 gene SLC22A5 BabySeq Category A gene;BeginNGS;Expert Review Green BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal Carnitine deficiency, systemic primary, MIM# 212140, MONDO:0008919 22420015 False 3 100;0;0 1.116 True ENSG00000197375 ENSG00000197375 HGNC:10969 SLC25A13 gene SLC25A13 BabySeq Category A gene;BeginNGS;Expert Review Green BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal Citrullinemia, type II, neonatal-onset, MIM# 605814 20301360 False 3 67;33;0 1.116 True ENSG00000004864 ENSG00000004864 HGNC:10983 SLC25A15 gene SLC25A15 BabySeq Category A gene;BeginNGS;Expert Review Green BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal Hyperornithinemia-hyperammonemia-homocitrullinemia syndrome, MIM#238970 22649802 False 3 100;0;0 1.116 True ENSG00000102743 ENSG00000102743 HGNC:10985 SLC25A19 gene SLC25A19 Expert Review Green;Literature BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal Thiamine metabolism dysfunction syndrome 4 (progressive polyneuropathy type), MIM#613710 31095747 False 3 67;33;0 1.116 True ENSG00000125454 ENSG00000125454 HGNC:14409 SLC25A20 gene SLC25A20 BabySeq Category A gene;BeginNGS;Expert Review Green BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal Carnitine-acylcarnitine translocase deficiency, MIM#212138 33085788;32885845 False 3 100;0;0 1.116 True ENSG00000178537 ENSG00000178537 HGNC:1421 SLC25A38 gene SLC25A38 BabySeq Category A gene;Expert Review Green BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal Anemia, sideroblastic, 2, pyridoxine-refractory, MIM# 205950 False 3 100;0;0 1.116 True ENSG00000144659 ENSG00000144659 HGNC:26054 SLC26A3 gene SLC26A3 BabySeq Category A gene;Expert Review Green BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal Diarrhoea 1, secretory chloride, congenital, MIM# 214700 False 3 100;0;0 1.116 True ENSG00000091138 ENSG00000091138 HGNC:3018 SLC26A4 gene SLC26A4 BabySeq Category A gene;Expert Review Green BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal Deafness, autosomal recessive 4, with enlarged vestibular aqueduct 600791;Pendred syndrome 274600 20301640 False 3 50;0;50 1.116 True ENSG00000091137 ENSG00000091137 HGNC:8818 SLC26A7 gene SLC26A7 Expert list;Expert Review Green BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal Congenital hypothyroidism, MONDO:0018612, SLC26A7-related 34780050;32486989;31372509;30333321 False 3 100;0;0 1.116 True ENSG00000147606 ENSG00000147606 HGNC:14467 SLC2A1 gene SLC2A1 BabySeq Category A gene;BeginNGS;Expert Review Green BabyScreen+ newborn screening Screening BOTH monoallelic and biallelic, autosomal or pseudoautosomal GLUT1 deficiency syndrome 2, childhood onset, 612126;{Epilepsy, idiopathic generalized, susceptibility to, 12}, MIM#614847;GLUT1 deficiency syndrome 1, infantile onset, severe, 606777 False 3 100;0;0 1.116 True ENSG00000117394 ENSG00000117394 HGNC:11005 SLC30A10 gene SLC30A10 Expert Review Green;Literature BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal Hypermanganesemia with dystonia 1, MIM# 613280 31089831 False 3 100;0;0 1.116 True ENSG00000196660 ENSG00000196660 HGNC:25355 SLC34A3 gene SLC34A3 BabySeq Category A gene;Expert Review Green BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal Hypophosphatemic rickets with hypercalciuria, MIM#241530 False 3 100;0;0 1.116 True ENSG00000198569 ENSG00000198569 HGNC:20305 SLC35A2 gene SLC35A2 BabySeq Category C gene;Expert Review Green BabyScreen+ newborn screening Screening X-LINKED: hemizygous mutation in males, biallelic mutations in females Congenital disorder of glycosylation, type IIm, MIM #300896 32103184 False 3 100;0;0 1.116 True ENSG00000102100 ENSG00000102100 HGNC:11022 SLC37A4 gene SLC37A4 BabySeq Category A gene;BeginNGS;Expert Review Green BabyScreen+ newborn screening Screening BOTH monoallelic and biallelic, autosomal or pseudoautosomal Glycogen storage disease Ib, MIM# 232220;Glycogen storage disease Ic, MIM# 232240;Congenital disorder of glycosylation, type IIw, MIM# 619525 False 3 100;0;0 1.116 True ENSG00000137700 ENSG00000137700 HGNC:4061 SLC39A4 gene SLC39A4 BabySeq Category A gene;Expert Review Green BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal Acrodermatitis enteropathica, MIM# 201100 28722865 False 3 100;0;0 1.116 True ENSG00000147804 ENSG00000147804 HGNC:17129 SLC39A7 gene SLC39A7 Expert Review Green;Literature BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal Agammaglobulinaemia 9, autosomal recessive, MIM# 619693 30718914 False 3 100;0;0 1.116 True ENSG00000112473 ENSG00000112473 HGNC:4927 SLC39A8 gene SLC39A8 BeginNGS;Expert Review Green BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal Congenital disorder of glycosylation, type IIn , MIM#16721 28722865 False 3 100;0;0 1.116 True ENSG00000138821 ENSG00000138821 HGNC:20862 SLC46A1 gene SLC46A1 BabySeq Category A gene;BeginNGS;Expert Review Green BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal Folate malabsorption, hereditary, MIM# 229050 False 3 100;0;0 1.116 True ENSG00000076351 ENSG00000076351 HGNC:30521 SLC4A1 gene SLC4A1 BabySeq Category A gene;Expert Review Green BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal Distal renal tubular acidosis 4 with haemolytic anaemia MIM# 611590 31600044 False 3 100;0;0 1.116 True ENSG00000004939 ENSG00000004939 HGNC:11027 SLC52A2 gene SLC52A2 BeginNGS;Expert Review Green BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal Brown-Vialetto-Van Laere syndrome 2, MIM# 614707 False 3 100;0;0 1.116 True ENSG00000185803 ENSG00000185803 HGNC:30224 SLC52A3 gene SLC52A3 BeginNGS;Expert Review Green BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal Brown-Vialetto-Van Laere syndrome 1, MIM# 211530 False 3 100;0;0 1.116 True ENSG00000101276 ENSG00000101276 HGNC:16187 SLC5A1 gene SLC5A1 BeginNGS;Expert Review Green BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal Glucose/galactose malabsorption, MIM# 606824 False 3 100;0;0 1.116 True ENSG00000100170 ENSG00000100170 HGNC:11036 SLC5A5 gene SLC5A5 BabySeq Category A gene;Expert Review Green BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal Thyroid dyshormonogenesis 1, MIM# 274400 33272083 False 3 100;0;0 1.116 True ENSG00000105641 ENSG00000105641 HGNC:11040 SLC5A6 gene SLC5A6 Expert Review Green;Literature BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal Neurodegeneration, infantile-onset, biotin-responsive, MIM# 618973 False 3 100;0;0 1.116 True ENSG00000138074 ENSG00000138074 HGNC:11041 SLC5A7 gene SLC5A7 Expert Review Green;Literature BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal Myasthenic syndrome, congenital, 20, presynaptic, MIM# 617143 20301347 False 3 100;0;0 1.116 True ENSG00000115665 ENSG00000115665 HGNC:14025 SLC7A7 gene SLC7A7 BabySeq Category A gene;Expert Review Green BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal Lysinuric protein intolerance, MIM# 222700 20301535 False 3 100;0;0 1.116 True ENSG00000155465 ENSG00000155465 HGNC:11065 SLITRK6 gene SLITRK6 Expert list;Expert Review Green BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal Deafness and myopia MIM#221200 PMID: 23543054, PMID: 25590127 False 3 100;0;0 1.116 True ENSG00000184564 ENSG00000184564 HGNC:23503 SLX4 gene SLX4 BeginNGS;Expert Review Green BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal Fanconi anaemia, complementation group P, MIM# 613951 False 3 100;0;0 1.116 True ENSG00000188827 ENSG00000188827 HGNC:23845 SMAD2 gene SMAD2 Expert Review;Expert Review Green BabyScreen+ newborn screening Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Loeys-Dietz syndrome 6, MIM# 619656 False 3 100;0;0 1.116 True ENSG00000175387 ENSG00000175387 HGNC:6768 SMAD3 gene SMAD3 BabySeq Category A gene;Expert Review Green BabyScreen+ newborn screening Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Loeys-Dietz syndrome 3, MIM# 613795 20301312 False 3 100;0;0 1.116 True ENSG00000166949 ENSG00000166949 HGNC:6769 SMARCD2 gene SMARCD2 Expert list;Expert Review Green BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal Specific granule deficiency 2 MIM#617475 PubMed: 28369036, 33279574, 33025377 False 3 100;0;0 1.116 True ENSG00000108604 ENSG00000108604 HGNC:11107 SMN1 gene SMN1 BabySeq Category A gene;BeginNGS;Expert Review Green BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal Spinal muscular atrophy type 1, MIM#253300 False 3 100;0;0 1.116 True ENSG00000172062 ENSG00000172062 HGNC:11117 SMPD1 gene SMPD1 BabySeq Category A gene;Expert Review Green BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal Niemann-Pick disease, type A, MIM# 257200;Niemann-Pick disease, type B, MIM# 607616 20301544 False 3 100;0;0 1.116 True ENSG00000166311 ENSG00000166311 HGNC:11120 SNX10 gene SNX10 Expert list;Expert Review Green BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal Osteopetrosis, autosomal recessive 8 MIM#615085 PMID: 30885997, PMID: 22499339 False 3 100;0;0 1.116 True ENSG00000086300 ENSG00000086300 HGNC:14974 SP110 gene SP110 BabySeq Category A gene;Expert Review Green BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal Hepatic veno-occlusive disease with immunodeficiency MIM#235550 False 3 100;0;0 1.116 True ENSG00000135899 ENSG00000135899 HGNC:5401 SPR gene SPR BabySeq Category A gene;Expert Review Green BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal Dystonia, dopa-responsive, due to sepiapterin reductase deficiency, MIM# 612716 False 3 100;0;0 1.116 True ENSG00000116096 ENSG00000116096 HGNC:11257 SRP54 gene SRP54 BeginNGS;Expert Review Green BabyScreen+ newborn screening Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Neutropenia, severe congenital, 8, autosomal dominant, MIM# 618752 False 3 0;0;0 1.116 True ENSG00000100883 ENSG00000100883 HGNC:11301 STAR gene STAR BabySeq Category A gene;BeginNGS;Expert Review Green BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal Congenital lipoid adrenal hyperplasia, MIM#201710 False 3 100;0;0 1.116 True ENSG00000147465 ENSG00000147465 HGNC:11359 STAT1 gene STAT1 Expert list;Expert Review Green BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal Immunodeficiency 31B, mycobacterial and viral infections, autosomal recessive MIM#613796 PMID: 31512162, PMID: 27117246 False 3 100;0;0 1.116 True ENSG00000115415 ENSG00000115415 HGNC:11362 STAT3 gene STAT3 BabySeq Category A gene;Expert Review Green BabyScreen+ newborn screening Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Autoimmune disease, multisystem, infantile-onset, 1 MIM# 615952 False 3 100;0;0 1.116 True ENSG00000168610 ENSG00000168610 HGNC:11364 STIM1 gene STIM1 Expert list;Expert Review Green BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal Immunodeficiency 10 MIM612783 PMID: 26469693, PMID: 30949876, PMID: 26560041 False 3 100;0;0 1.116 True ENSG00000167323 ENSG00000167323 HGNC:11386 STK4 gene STK4 Expert list;Expert Review Green BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal T-cell immunodeficiency, recurrent infections, autoimmunity, and cardiac malformations MIM#614868 PMID: 22294732 False 3 100;0;0 1.116 True ENSG00000101109 ENSG00000101109 HGNC:11408 STX11 gene STX11 BabySeq Category A gene;BeginNGS;Expert Review Green BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal Haemophagocytic lymphohistiocytosis, familial, 4, MIM#603552 False 3 100;0;0 1.116 True ENSG00000135604 ENSG00000135604 HGNC:11429 STX16 gene STX16 Expert list;Expert Review Green BabyScreen+ newborn screening Screening MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed) Pseudohypoparathyroidism, type IB MIM#603233 PMID: 33247854, PMID: 34477200, PMID: 29072892 False 3 100;0;0 1.116 True ENSG00000124222 ENSG00000124222 HGNC:11431 STXBP2 gene STXBP2 BabySeq Category A gene;BeginNGS;Expert Review Green BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal Hemophagocytic lymphohistiocytosis, familial, 5, MIM# 613101 False 3 100;0;0 1.116 True ENSG00000076944 ENSG00000076944 HGNC:11445 SYT2 gene SYT2 Expert list;Expert Review Green BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal Myasthenic syndrome, congenital, 7B, presynaptic, autosomal recessive MIM#619461 PMID: 32250532, 32776697 False 3 100;0;0 1.116 True ENSG00000143858 ENSG00000143858 HGNC:11510 TANGO2 gene TANGO2 Expert Review;Expert Review Green BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal Metabolic encephalomyopathic crises, recurrent, with rhabdomyolysis, cardiac arrhythmias, and neurodegeneration, MIM# 616878 False 3 100;0;0 1.116 True ENSG00000183597 ENSG00000183597 HGNC:25439 TAT gene TAT BabySeq Category A gene;BeginNGS;Expert Review Green BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal Tyrosinemia, type II, MIM#276600 False 3 100;0;0 1.116 True ENSG00000198650 ENSG00000198650 HGNC:11573 TBL1X gene TBL1X Expert list;Expert Review Green BabyScreen+ newborn screening Screening X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Hypothyroidism, congenital, nongoitrous, 8 MIM#301033 PMID: 27603907 False 3 100;0;0 1.116 True ENSG00000101849 ENSG00000101849 HGNC:11585 TBX19 gene TBX19 BeginNGS;Expert Review Green BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal Adrenocorticotropic hormone deficiency, MIM#201400 30086867 False 3 100;0;0 1.116 True ENSG00000143178 ENSG00000143178 HGNC:11596 TCF3 gene TCF3 BeginNGS;Expert Review Green BabyScreen+ newborn screening Screening BOTH monoallelic and biallelic, autosomal or pseudoautosomal Agammaglobulinaemia 8, autosomal dominant, MIM# 616941;Agammaglobulinaemia 8B, autosomal recessive, MIM# 619824 False 3 100;0;0 1.116 True ENSG00000071564 ENSG00000071564 HGNC:11633 TCIRG1 gene TCIRG1 BabySeq Category A gene;Expert Review Green BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal Osteopetrosis, autosomal recessive 1, MIM# 259700 False 3 100;0;0 1.116 True ENSG00000110719 ENSG00000110719 HGNC:11647 TCN2 gene TCN2 BeginNGS;Expert Review Green BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal Transcobalamin II deficiency MIM# 275350 32841161;33685478 False 3 100;0;0 1.116 True ENSG00000185339 ENSG00000185339 HGNC:11653 TECTA gene TECTA BabySeq Category A gene;Expert Review Green BabyScreen+ newborn screening Screening BOTH monoallelic and biallelic, autosomal or pseudoautosomal Deafness, autosomal recessive 21 603629;Deafness, autosomal dominant 8/12 601543 False 3 100;0;0 1.116 True ENSG00000109927 ENSG00000109927 HGNC:11720 TF gene TF Expert list;Expert Review Green BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal Atransferrinemia MIM#209300 PMID: 32028041, PMID: 19579082, PMID: 11110675 False 3 100;0;0 1.116 True ENSG00000091513 ENSG00000091513 HGNC:11740 TG gene TG BabySeq Category A gene;Expert Review Green BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal Thyroid dyshormonogenesis 3, MIM# 274700 33272083 False 3 100;0;0 1.116 True ENSG00000042832 ENSG00000042832 HGNC:11764 TGFB2 gene TGFB2 ClinGen;Expert Review Green BabyScreen+ newborn screening Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted "Loeys-Dietz syndrome 4, MIM# 614816" False 3 100;0;0 1.116 True ENSG00000092969 ENSG00000092969 HGNC:11768 TGFB3 gene TGFB3 BabySeq Category C gene;Expert Review Green BabyScreen+ newborn screening Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Loeys-Dietz syndrome 5 , MIM#615582 False 3 100;0;0 1.116 True ENSG00000119699 ENSG00000119699 HGNC:11769 TGFBR1 gene TGFBR1 BabySeq Category A gene;Expert Review Green BabyScreen+ newborn screening Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Loeys-Dietz syndrome 1, MIM# 609192 False 3 100;0;0 1.116 True ENSG00000106799 ENSG00000106799 HGNC:11772 TGFBR2 gene TGFBR2 BabySeq Category A gene;Expert Review Green BabyScreen+ newborn screening Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Loeys-Dietz syndrome 2, MIM# 610168 False 3 100;0;0 1.116 True ENSG00000163513 ENSG00000163513 HGNC:11773 TH gene TH BabySeq Category A gene;BeginNGS;Expert Review Green BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal Tyrosine hydroxylase deficiency, MIM#605407 20301610 False 3 100;0;0 1.116 True ENSG00000180176 ENSG00000180176 HGNC:11782 THRA gene THRA BabySeq Category A gene;Expert Review Green BabyScreen+ newborn screening Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Hypothyroidism, congenital, nongoitrous, 6, MIM# 614450 33272083;32349464 False 3 50;50;0 1.116 True ENSG00000126351 ENSG00000126351 HGNC:11796 TK2 gene TK2 BabySeq Category A gene;Expert Review Green BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal Mitochondrial DNA depletion syndrome 2 (myopathic type), 609560 23230576;29602790;31125140;23385875 False 3 50;50;0 1.116 True ENSG00000166548 ENSG00000166548 HGNC:11831 TMC1 gene TMC1 BabySeq Category A gene;Expert Review Green BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal Deafness, autosomal recessive 7 MIM#600974 11850618;26879195 False 3 100;0;0 1.116 True ENSG00000165091 ENSG00000165091 HGNC:16513 TMEM38B gene TMEM38B Expert list;Expert Review Green BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal Osteogenesis imperfecta, type XIV , MIM#615066 23054245;28323974 False 3 100;0;0 1.116 True ENSG00000095209 ENSG00000095209 HGNC:25535 TMIE gene TMIE BabySeq Category A gene;Expert Review Green BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal Deafness, autosomal recessive 6 MIM#600971 20301607;33987950 False 3 100;0;0 1.116 True ENSG00000181585 ENSG00000181585 HGNC:30800 TMPRSS3 gene TMPRSS3 BabySeq Category A gene;Expert Review Green BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal deafness, autosomal recessive MIM#601072 34868270 False 3 100;0;0 1.116 True ENSG00000160183 ENSG00000160183 HGNC:11877 TNFRSF11A gene TNFRSF11A BeginNGS;Expert Review Green BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal Osteopetrosis, autosomal recessive 7 - MIM# 612301 36031188;35812760 False 3 100;0;0 1.116 True ENSG00000141655 ENSG00000141655 HGNC:11908 TP53 gene TP53 BabySeq Category A gene;Expert Review Green BabyScreen+ newborn screening Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Li-Fraumeni syndrome MIM#151623 28572266 False 3 100;0;0 1.116 True ENSG00000141510 ENSG00000141510 HGNC:11998 TPK1 gene TPK1 Expert list;Expert Review Green BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal Thiamine metabolism dysfunction syndrome 5 (episodic encephalopathy type) MIM#614458 PMID: 33086386, 32679198, 22152682, PMID: 33231275 False 3 100;0;0 1.116 True ENSG00000196511 ENSG00000196511 HGNC:17358 TPO gene TPO BabySeq Category A gene;Expert Review Green BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal Thyroid dyshormonogenesis 2A MIM#274500 False 3 100;0;0 1.116 True ENSG00000115705 ENSG00000115705 HGNC:12015 TPP1 gene TPP1 BabySeq Category A gene;Expert Review Green BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal Ceroid lipofuscinosis, neuronal, 2 MIM#204500 (Batten disease) 32684372;31884868;30470609;33882967 False 3 50;50;0 1.116 True ENSG00000166340 ENSG00000166340 HGNC:2073 TPRN gene TPRN BabySeq Category C gene;Expert Review Green BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal Deafness, autosomal recessive 79, MIM# 613307 False 3 100;0;0 1.116 True ENSG00000176058 ENSG00000176058 HGNC:26894 TRHR gene TRHR BabySeq Category C gene;Expert Review Green BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal Hypothyroidism, congenital, nongoitrous, 7, MIM# 618573 9141550;19213692;26735259;28419241;32319661 False 3 100;0;0 1.116 True ENSG00000174417 ENSG00000174417 HGNC:12299 TRIM28 gene TRIM28 Expert list;Expert Review Green BabyScreen+ newborn screening Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Wilms tumour, MONDO:0006058, TRIM28-related 30694527 False 3 100;0;0 1.116 True ENSG00000130726 ENSG00000130726 HGNC:16384 TRIOBP gene TRIOBP BabySeq Category A gene;Expert Review Green BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal Deafness, autosomal recessive 28, MIM#609823 16385457;16385458 False 3 100;0;0 1.116 True ENSG00000100106 ENSG00000100106 HGNC:17009 TRMU gene TRMU BabySeq Category A gene;Expert Review Green BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal Liver failure, transient infantile MIM# 613070 19732863;36305855 False 3 100;0;0 1.116 True ENSG00000100416 ENSG00000100416 HGNC:25481 TRPM6 gene TRPM6 Expert list;Expert Review Green BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal Hypomagnesemia 1, intestinal MIM#602014 PMID: 35903165, PMID: 18818955 False 3 100;0;0 1.116 True ENSG00000119121 ENSG00000119121 HGNC:17995 TSHB gene TSHB BabySeq Category A gene;Expert Review Green BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal Hypothyroidism, congenital, nongoitrous 4, MIM#275100 31166470;35102753;31384098 False 3 100;0;0 1.116 True ENSG00000134200 ENSG00000134200 HGNC:12372 TSHR gene TSHR BabySeq Category A gene;Expert Review Green BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal Hypothyroidism, congenital, nongoitrous, 1 - MIM#275200 8981017;20515734 False 3 50;50;0 1.116 True ENSG00000165409 ENSG00000165409 HGNC:12373 TTPA gene TTPA BabySeq Category A gene;Expert Review Green BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal Ataxia with isolated vitamin E deficiency MIM#277460 20301419;25614784;20464573;16491382 False 3 100;0;0 1.116 True ENSG00000137561 ENSG00000137561 HGNC:12404 TUBB1 gene TUBB1 Expert list;Expert Review Green BabyScreen+ newborn screening Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Congenital hypothyroidism, MONDO:0018612, TUBB1-related;Macrothrombocytopenia, autosomal dominant, TUBB1-related, OMIM # 613112 30446499 False 3 100;0;0 1.116 True ENSG00000101162 ENSG00000101162 HGNC:16257 UBE2T gene UBE2T BeginNGS;Expert Review Green BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal Fanconi anaemia, complementation group T, MIM# 616435 32646888;26119737;26046368;26085575 False 3 50;50;0 1.116 True ENSG00000077152 ENSG00000077152 HGNC:25009 UGT1A1 gene UGT1A1 BabySeq Category A gene;Expert Review Green BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal "Crigler-Najjar syndrome, type I, MIM# 218800" 26595536;29448836 False 3 100;0;0 1.116 True ENSG00000241635 ENSG00000241635 HGNC:12530 UMPS gene UMPS Expert list;Expert Review Green BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal "Orotic aciduria MIM#258900" PMID: 9042911, PMID: 28205048, PMID: 25757096, PMID: 33489760 False 3 100;0;0 1.116 True ENSG00000114491 ENSG00000114491 HGNC:12563 UNC13D gene UNC13D BabySeq Category A gene;BeginNGS;Expert Review Green BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal Haemophagocytic lymphohistiocytosis, familial, 3, MIM#608898 20301617 False 3 100;0;0 1.116 True ENSG00000092929 ENSG00000092929 HGNC:23147 UROS gene UROS BabySeq Category A gene;Expert Review Green BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal Porphyria, congenital erythropoietic MIM#263700 24027798 False 3 100;0;0 1.116 True ENSG00000188690 ENSG00000188690 HGNC:12592 USH1C gene USH1C BabySeq Category A gene;Expert Review Green BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal Usher syndrome type 1 MIM#276904 20301442 False 3 100;0;0 1.116 True ENSG00000006611 ENSG00000006611 HGNC:12597 USH1G gene USH1G BabySeq Category A gene;Expert Review Green BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal Usher syndrome type 1 MIM#606943 20301442 False 3 100;0;0 1.116 True ENSG00000182040 ENSG00000182040 HGNC:16356 USH2A gene USH2A BabySeq Category A gene;Expert Review Green BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal Usher Syndrome Type II MIM#276901 20301515;36041150;34331125 False 3 100;0;0 1.116 True ENSG00000042781 ENSG00000042781 HGNC:12601 VAMP1 gene VAMP1 BabySeq Category C gene;BeginNGS;Expert Review Green BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal Myasthenic syndrome, congenital, 25, MIM# 618323 28168212;28253535;28600779;17102983 False 3 100;0;0 1.116 True ENSG00000139190 ENSG00000139190 HGNC:12642 VDR gene VDR BabySeq Category A gene;Expert Review Green BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal Rickets, vitamin D-resistant, type IIA MIM#277440 32596195;31926093;32049653 False 3 100;0;0 1.116 True ENSG00000111424 ENSG00000111424 HGNC:12679 VHL gene VHL BabySeq Category A gene;Expert Review Green BabyScreen+ newborn screening Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted von Hippel-Lindau syndrome MIM#193300 20301636;33945366;34613603;28620007 False 3 50;50;0 1.116 True ENSG00000134086 ENSG00000134086 HGNC:12687 VKORC1 gene VKORC1 Expert list;Expert Review Green BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal Vitamin K-dependent clotting factors, combined deficiency of, 2 MIM#607473 PMID:14765194, PMID: 26287237 False 3 50;50;0 1.116 True ENSG00000167397 ENSG00000167397 HGNC:23663 VPS45 gene VPS45 BeginNGS;Expert Review Green BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal Neutropenia, severe congenital, 5, autosomal recessive, MIM#615285 30294941;32037586;23738510 False 3 100;0;0 1.116 True ENSG00000136631 ENSG00000136631 HGNC:14579 WAS gene WAS BabySeq Category A gene;BeginNGS;Expert Review Green BabyScreen+ newborn screening Screening X-LINKED: hemizygous mutation in males, biallelic mutations in females Neutropenia, severe congenital, X-linked , MIM#300299;Thrombocytopaenia, X-linked, MIM# 313900;Wiskott-Aldrich syndrome, MIM# 301000 20301357 False 3 100;0;0 1.116 True ENSG00000015285 ENSG00000015285 HGNC:12731 WDR1 gene WDR1 Expert list;Expert Review Green BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal Periodic fever, immunodeficiency, and thrombocytopenia syndrome MIM#150550 PMID: 32960541, 27994071, 27557945 False 3 100;0;0 1.116 True ENSG00000071127 ENSG00000071127 HGNC:12754 WDR72 gene WDR72 Expert list;Expert Review Green BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal Amelogenesis imperfecta, type IIA3, MIM# 613211;Distal RTA MONDO:0015827 PMID: 30028003, PMID: 30779877, PMID:36836560, PMID: 33033857 False 3 100;0;0 1.116 True ENSG00000166415 ENSG00000166415 HGNC:26790 WHRN gene WHRN BabySeq Category C gene;Expert Review Green BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal Usher syndrome, type 2D, MIM# 611383;Deafness, autosomal recessive 31, MIM# 607084 15841483;28254438;17171570;12833159;26338283;20502675;21738389;27117407;29270100;22147658 False 3 50;50;0 1.116 True ENSG00000095397 ENSG00000095397 HGNC:16361 WIPF1 gene WIPF1 Expert list;Expert Review Green BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal Wiskott-Aldrich syndrome 2 MIM#614493 PMID: 27742395, PMID: 30450104, PMID: 22231303 False 3 100;0;0 1.116 True ENSG00000115935 ENSG00000115935 HGNC:12736 WNK1 gene WNK1 BabySeq Category C gene;Expert Review Green BabyScreen+ newborn screening Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Pseudohypoaldosteronism 2C (PHA2C), MIM#614492 False 3 100;0;0 1.116 True ENSG00000060237 ENSG00000060237 HGNC:14540 WNK4 gene WNK4 Expert list;Expert Review Green BabyScreen+ newborn screening Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Pseudohypoaldosteronism, type IIB MIM#614491 PMID: 22073419, PMID: 31795491, PMID: 10869238, False 3 100;0;0 1.116 True ENSG00000126562 ENSG00000126562 HGNC:14544 WT1 gene WT1 BabySeq Category A gene;BabySeq Category B gene;Expert Review Green BabyScreen+ newborn screening Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Wilms tumor, type 1, MIM#194070 False 3 100;0;0 1.116 True ENSG00000184937 ENSG00000184937 HGNC:12796 XIAP gene XIAP BeginNGS;Expert Review Green BabyScreen+ newborn screening Screening X-LINKED: hemizygous mutation in males, biallelic mutations in females Lymphoproliferative syndrome, X-linked, 2, MIM# 300635 22228567;20489057;17080092;24942515;25943627 False 3 100;0;0 1.116 True ENSG00000101966 ENSG00000101966 HGNC:592 XPA gene XPA BabySeq Category A gene;Expert Review Green BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal Xeroderma pigmentosum, group A MIM#278700 False 3 100;0;0 1.116 True ENSG00000136936 ENSG00000136936 HGNC:12814 XPC gene XPC BabySeq Category A gene;Expert Review Green BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal Xeroderma pigmentosum, group C MIM#278720 26255934 False 3 100;0;0 1.116 True ENSG00000154767 ENSG00000154767 HGNC:12816 ZAP70 gene ZAP70 BabySeq Category A gene;Expert Review Green BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal Immunodeficiency MIM#176947 20301777 False 3 100;0;0 1.116 True ENSG00000115085 ENSG00000115085 HGNC:12858 ADAR gene ADAR BabySeq Category A gene;Expert Review Amber BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal Aicardi-Goutieres syndrome 6, MIM# 615010 32877590 False 2 0;100;0 1.116 True ENSG00000160710 ENSG00000160710 HGNC:225 AGPAT2 gene AGPAT2 Expert list;Expert Review Amber BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal "Lipodystrophy, congenital generalized, type 1, MIM# 608594" 29704234 False 2 0;100;0 1.116 True ENSG00000169692 ENSG00000169692 HGNC:325 AMT gene AMT BabySeq Category A gene;Expert Review Amber BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal Glycine encephalopathy MIM#605899 35683414 False 2 0;100;0 1.116 True ENSG00000145020 ENSG00000145020 HGNC:473 AP1B1 gene AP1B1 Expert list;Expert Review Amber BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal Keratitis-ichthyosis-deafness syndrome, autosomal recessive MIM#242150 PMID:31630791, 31630788, 33452671 False 2 50;50;0 1.116 True ENSG00000100280 ENSG00000100280 HGNC:554 AP3D1 gene AP3D1 Expert list;Expert Review Amber BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal Hermansky-Pudlak syndrome 10, MIM# 617050 26744459;9697856;30472485;36445457 False 2 0;100;0 1.116 True ENSG00000065000 ENSG00000065000 HGNC:568 CACNA1C gene CACNA1C BabySeq Category B gene;BeginNGS;Expert Review Amber BabyScreen+ newborn screening Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted "Timothy syndrome, MIM# 601005;Brugada syndrome;Long QT syndrome 8, MIM# 618447" False 2 0;0;0 1.116 False ENSG00000151067 ENSG00000151067 HGNC:1390 CALM1 gene CALM1 ClinGen;Expert Review Amber BabyScreen+ newborn screening Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Ventricular tachycardia, catecholaminergic polymorphic, 4, MIM# 614916 False 2 0;100;0 1.116 True ENSG00000198668 ENSG00000198668 HGNC:1442 CALM2 gene CALM2 ClinGen;Expert Review Amber BabyScreen+ newborn screening Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Catecholaminergic polymorphic ventricular tachycardia MONDO:0017990 False 2 0;100;0 1.116 True ENSG00000143933 ENSG00000143933 HGNC:1445 CASQ2 gene CASQ2 BabySeq Category A gene;Expert Review Amber BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal Ventricular tachycardia, catecholaminergic polymorphic, 2, MIM# 611938 False 2 0;100;0 1.116 True ENSG00000118729 ENSG00000118729 HGNC:1513 CLN3 gene CLN3 BabySeq Category A gene;Expert Review Amber BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal Ceroid lipofuscinosis, neuronal, 3, MIM# 204200 False 2 0;100;0 1.116 True ENSG00000188603 ENSG00000188603 HGNC:2074 CLN5 gene CLN5 BabySeq Category A gene;Expert Review Amber BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal Ceroid lipofuscinosis, neuronal, 5, MIM# 256731;MONDO:0009745 False 2 0;100;0 1.116 True ENSG00000102805 ENSG00000102805 HGNC:2076 CLN6 gene CLN6 BabySeq Category A gene;Expert Review Amber BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal Ceroid lipofuscinosis, neuronal, 6, MIM# 601780 33242182 False 2 0;100;0 1.116 True ENSG00000128973 ENSG00000128973 HGNC:2077 COL3A1 gene COL3A1 BabySeq Category A gene;Expert Review Amber BabyScreen+ newborn screening Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Ehlers-Danlos syndrome, vascular type, MIM# 130050 False 2 0;100;0 1.116 True ENSG00000168542 ENSG00000168542 HGNC:2201 COQ7 gene COQ7 BeginNGS;Expert Review Amber BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal "Coenzyme Q10 deficiency, primary, 8, MIM# 616733" False 2 0;100;0 1.116 True ENSG00000167186 ENSG00000167186 HGNC:2244 CP gene CP BabySeq Category B gene;Expert Review Amber BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal Aceruloplasminaemia, MIM#604290 False 2 0;100;0 1.116 True ENSG00000047457 ENSG00000047457 HGNC:2295 CRYAB gene CRYAB BabySeq Category A gene;BabySeq Category B gene;Expert Review Amber BabyScreen+ newborn screening Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Myofibrillar myopathy;Cardiomyopathy, dilated False 2 0;0;0 1.116 False ENSG00000109846 ENSG00000109846 HGNC:2389 DES gene DES BabySeq Category A gene;BabySeq Category B gene;Expert Review Amber BabyScreen+ newborn screening Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Myopathy, myofibrillar;Cardiomyopathy, dilated False 2 0;0;0 1.116 False ENSG00000175084 ENSG00000175084 HGNC:2770 DMD gene DMD BabySeq Category A gene;BabySeq Category B gene;BeginNGS;Expert Review Amber BabyScreen+ newborn screening Screening X-LINKED: hemizygous mutation in males, biallelic mutations in females Duchenne muscular dystrophy MIM#310200 36278620;36152336;35562557;35307847 False 2 0;100;0 1.116 True ENSG00000198947 ENSG00000198947 HGNC:2928 DSC2 gene DSC2 BabySeq Category B gene;Expert Review Amber BabyScreen+ newborn screening Screening BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal Arrhythmogenic right ventricular dysplasia 11, MIM# 610476;Arrhythmogenic right ventricular dysplasia 11 with mild palmoplantar keratoderma and woolly hair, MIM# 610476 False 2 0;100;0 1.116 True ENSG00000134755 ENSG00000134755 HGNC:3036 DSG2 gene DSG2 BabySeq Category B gene;Expert Review Amber BabyScreen+ newborn screening Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Arrhythmogenic right ventricular dysplasia 10, MIM# 610193 False 2 0;100;0 1.116 True ENSG00000046604 ENSG00000046604 HGNC:3049 DSP gene DSP BabySeq Category A gene;BabySeq Category B gene;BeginNGS;Expert Review Amber BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal Arrhythmogenic right ventricular dysplasia 8, MIM# 607450 False 2 0;100;0 1.116 True ENSG00000096696 ENSG00000096696 HGNC:3052 ERCC6L2 gene ERCC6L2 Expert Review;Expert Review Amber BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal "Bone marrow failure syndrome 2, MIM# 615715" 24507776;27185855 False 2 0;100;0 1.116 True ENSG00000182150 ENSG00000182150 HGNC:26922 F8 gene F8 BabySeq Category A gene;BeginNGS;Expert Review Amber BabyScreen+ newborn screening Screening X-LINKED: hemizygous mutation in males, biallelic mutations in females Haemophilia A, MIM#306700 False 2 0;100;0 1.116 True ENSG00000185010 ENSG00000185010 HGNC:3546 GFAP gene GFAP BabySeq Category A gene;Expert Review Amber BabyScreen+ newborn screening Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Alexander disease, MIM#203450 False 2 0;50;50 1.116 True ENSG00000131095 ENSG00000131095 HGNC:4235 GJA5 gene GJA5 BabySeq Category B gene;Expert Review Amber BabyScreen+ newborn screening Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Atrial fibrillation False 2 0;0;0 1.116 False ENSG00000143140 ENSG00000265107 HGNC:4279 GLDC gene GLDC BabySeq Category A gene;Expert Review Amber BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal Glycine encephalopathy, MIM# 605899 16404748;34513771;35683414 False 2 0;100;0 1.116 True ENSG00000178445 ENSG00000178445 HGNC:4313 GNE gene GNE BabySeq Category A gene;Expert Review Amber BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal Nonaka myopathy, MIM# 605820 False 2 0;0;100 1.116 True ENSG00000159921 ENSG00000159921 HGNC:23657 GPD1L gene GPD1L BabySeq Category B gene;Expert Review Amber BabyScreen+ newborn screening Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Brugada syndrome False 2 0;0;0 1.116 False ENSG00000152642 ENSG00000152642 HGNC:28956 HBA1 gene HBA1 BabySeq Category A gene;BeginNGS;Expert Review Amber BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal Thalassaemia alpha, MIM#604131 False 2 0;100;0 1.116 True ENSG00000206172 ENSG00000206172 HGNC:4823 HBA2 gene HBA2 BabySeq Category A gene;BeginNGS;Expert Review Amber BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal Thalassemia, alpha, MIM#604131 False 2 0;100;0 1.116 True ENSG00000188536 ENSG00000188536 HGNC:4824 HGD gene HGD BabySeq Category A gene;Expert Review Amber BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal Alkaptonuria MIM#203500 34344451;12501223 False 2 0;50;50 1.116 True ENSG00000113924 ENSG00000113924 HGNC:4892 HMGCS2 gene HMGCS2 Expert list;Expert Review Amber BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal HMG-CoA synthase-2 deficiency MIM#605911 PMID: 32259399, 32470406 False 2 0;100;0 1.116 True ENSG00000134240 ENSG00000134240 HGNC:5008 HNF1A gene HNF1A BeginNGS;Expert Review Amber BabyScreen+ newborn screening Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted "MODY, type III , MIM#600496" False 2 0;100;0 1.116 True ENSG00000135100 ENSG00000135100 HGNC:11621 HNF4A gene HNF4A BabySeq Category C gene;BeginNGS;Expert Review Amber BabyScreen+ newborn screening Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted "Fanconi renotubular syndrome 4, with maturity-onset diabetes of the young, MIM# 616026;Hypoglycaemia, hyperinsulinaemic, MIM#125850;MODY, type I, OMIM # 125850" False 2 0;100;0 1.116 True ENSG00000101076 ENSG00000101076 HGNC:5024 IARS gene IARS Expert list;Expert Review Amber BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal Growth retardation, impaired intellectual development, hypotonia, and hepatopathy, MIM#617093 27426735;34194004 False 2 0;100;0 1.116 True ENSG00000196305 ENSG00000196305 HGNC:5330 IFNGR1 gene IFNGR1 Expert list;Expert Review Amber BabyScreen+ newborn screening Screening BOTH monoallelic and biallelic, autosomal or pseudoautosomal Immunodeficiency 27A, mycobacteriosis, AR, MIM# 209950;Immunodeficiency 27B, mycobacteriosis, AD, MIM# 615978 False 2 0;100;0 1.116 True ENSG00000027697 ENSG00000027697 HGNC:5439 IFNGR2 gene IFNGR2 Expert list;Expert Review Amber BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal Immunodeficiency 28, mycobacteriosis, MIM# 614889 False 2 0;100;0 1.116 True ENSG00000159128 ENSG00000159128 HGNC:5440 IKBKG gene IKBKG BabySeq Category A gene;Expert Review Amber BabyScreen+ newborn screening Screening X-LINKED: hemizygous mutation in males, biallelic mutations in females Immunodeficiency 33 (300636) False 2 0;100;0 1.116 True ENSG00000073009 ENSG00000269335 HGNC:5961 JUP gene JUP BabySeq Category A gene;BabySeq Category B gene;Expert Review Amber BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal Arrhythmogenic right ventricular dysplasia 12 MIM# 611528;Naxos disease MIM# 601214 False 2 0;100;0 1.116 True ENSG00000173801 ENSG00000173801 HGNC:6207 KCNE1 gene KCNE1 BabySeq Category A gene;BabySeq Category B gene;Expert Review Amber BabyScreen+ newborn screening Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Long QT syndrome-5;Jervell and Lange-Nielsen syndrome False 2 0;0;0 1.116 False ENSG00000180509 ENSG00000180509 HGNC:6240 KCNE2 gene KCNE2 BabySeq Category B gene;Expert Review Amber BabyScreen+ newborn screening Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Long QT syndrome-6 False 2 0;0;0 1.116 False ENSG00000159197 ENSG00000159197 HGNC:6242 KRIT1 gene KRIT1 Expert list;Expert Review Amber BabyScreen+ newborn screening Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Cerebral cavernous malformations-1 MIM# 116860 PMID: 30061145, 20301470, 27561926 False 2 0;0;0 1.116 False ENSG00000001631 ENSG00000001631 HGNC:1573 LAMP2 gene LAMP2 BabySeq Category A gene;Expert Review Amber BabyScreen+ newborn screening Screening X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Danon disease, MIM# 300257 False 2 67;33;0 1.116 True ENSG00000005893 ENSG00000005893 HGNC:6501 LMNA gene LMNA BabySeq Category A gene;BabySeq Category B gene;Expert Review Amber BabyScreen+ newborn screening Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Charcot-Marie-Tooth disease;Emery-Dreifuss muscular dystrophy 2;Dilated cardiomyopathy False 2 0;0;0 1.116 False ENSG00000160789 ENSG00000160789 HGNC:6636 LOX gene LOX ClinGen;Expert Review Amber BabyScreen+ newborn screening Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Aortic aneurysm, familial thoracic 10, MIM#617168 False 2 0;100;0 1.116 True ENSG00000113083 ENSG00000113083 HGNC:6664 MCFD2 gene MCFD2 BabySeq Category A gene;Expert Review Amber BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal Factor V and factor VIII, combined deficiency of, MIM# 613625 False 2 0;100;0 1.116 True ENSG00000180398 ENSG00000180398 HGNC:18451 MEN1 gene MEN1 BabySeq Category A gene;Expert Review Amber BabyScreen+ newborn screening Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Multiple endocrine neoplasia 1, MIM#131100 False 2 50;0;50 1.116 True ENSG00000133895 ENSG00000133895 HGNC:7010 MYH11 gene MYH11 BabySeq Category B gene;Expert Review Amber BabyScreen+ newborn screening Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Aortic aneurysm, familial thoracic 4, MIM#160745 False 2 0;100;0 1.116 True ENSG00000133392 ENSG00000133392 HGNC:7569 MYL2 gene MYL2 BabySeq Category B gene;Expert Review Amber BabyScreen+ newborn screening Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Cardiomyopathy, familial hypertrophic, 10 False 2 0;0;0 1.116 False ENSG00000111245 ENSG00000111245 HGNC:7583 MYL3 gene MYL3 BabySeq Category B gene;Expert Review Amber BabyScreen+ newborn screening Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Cardiomyopathy, familial hypertrophic, 8 False 2 0;0;0 1.116 False ENSG00000160808 ENSG00000160808 HGNC:7584 MYLK gene MYLK BabySeq Category B gene;Expert Review Amber BabyScreen+ newborn screening Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Aortic aneurysm, familial thoracic 7 False 2 0;0;0 1.116 False ENSG00000065534 ENSG00000065534 HGNC:7590 NAXD gene NAXD Expert list;Expert Review Amber BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 2 MIM#618321 30576410;31755961;32462209;35231119 False 2 0;100;0 1.116 True ENSG00000213995 ENSG00000213995 HGNC:25576 NCF1 gene NCF1 BabySeq Category A gene;BeginNGS;Expert Review Amber BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal Chronic granulomatous disease, MIM#233700 27178966 False 2 50;50;0 1.116 True ENSG00000158517 ENSG00000158517 HGNC:7660 NLRP3 gene NLRP3 Expert Review;Expert Review Amber BabyScreen+ newborn screening Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Familial cold inflammatory syndrome 1, MIM#120100 Muckle-Wells syndrome, MIM#191900 CINCA syndrome, MIM#607115 Deafness, autosomal dominant 34, with or without inflammation, MIM#617772 Keratoendothelitis fugax hereditaria, MIM#148200 25038238 False 2 0;100;0 1.116 True ENSG00000162711 ENSG00000162711 HGNC:16400 PKD1 gene PKD1 BabySeq Category A gene;Expert Review Amber BabyScreen+ newborn screening Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Polycystic kidney disease 1, MIM# 173900 False 2 0;100;0 1.116 True ENSG00000008710 ENSG00000008710 HGNC:9008 PKD2 gene PKD2 BabySeq Category A gene;Expert Review Amber BabyScreen+ newborn screening Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Polycystic kidney disease 2, MIM# 613095 False 2 0;100;0 1.116 True ENSG00000118762 ENSG00000118762 HGNC:9009 PKP2 gene PKP2 BabySeq Category B gene;Expert Review Amber BabyScreen+ newborn screening Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Arrhythmogenic right ventricular dysplasia 9, MIM# 609040 False 2 0;100;0 1.116 True ENSG00000057294 ENSG00000057294 HGNC:9024 PMS2 gene PMS2 BabySeq Category C gene;Expert Review Amber BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal Mismatch repair cancer syndrome 4, MIM# 619101 False 2 0;100;0 1.116 True ENSG00000122512 ENSG00000122512 HGNC:9122 PRKG1 gene PRKG1 ClinGen;Expert Review Amber BabyScreen+ newborn screening Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Aortic aneurysm, familial thoracic 8, MIM#615436 False 2 0;100;0 1.116 True ENSG00000185532 ENSG00000185532 HGNC:9414 PSPH gene PSPH BeginNGS;Expert Review Amber BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal "Phosphoserine phosphatase deficiency, MIM# 614023" 16763900;26589312;29899766 False 2 0;100;0 1.116 True ENSG00000146733 ENSG00000146733 HGNC:9577 RBM20 gene RBM20 BabySeq Category B gene;Expert Review Amber BabyScreen+ newborn screening Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Cardiomyopathy, dilated, 1DD False 2 0;0;0 1.116 False ENSG00000203867 ENSG00000203867 HGNC:27424 RNASEH2A gene RNASEH2A BabySeq Category A gene;Expert Review Amber BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal Aicardi-Goutieres syndrome 4, MIM# 610333 False 2 0;100;0 1.116 True ENSG00000104889 ENSG00000104889 HGNC:18518 RNASEH2B gene RNASEH2B BabySeq Category A gene;Expert Review Amber BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal Aicardi-Goutieres syndrome 2, MIM# 610181 32877590 False 2 0;100;0 1.116 True ENSG00000136104 ENSG00000136104 HGNC:25671 RNASEH2C gene RNASEH2C BabySeq Category A gene;Expert Review Amber BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal Aicardi-Goutieres syndrome 3, MIM# 610329 32877590 False 2 0;100;0 1.116 True ENSG00000172922 ENSG00000172922 HGNC:24116 SAMHD1 gene SAMHD1 BabySeq Category A gene;Expert Review Amber BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal Aicardi-Goutieres syndrome 5, MIM# 612952 32877590 False 2 50;50;0 1.116 True ENSG00000101347 ENSG00000101347 HGNC:15925 SCN5A gene SCN5A BabySeq Category B gene;BeginNGS;Expert Review Amber BabyScreen+ newborn screening Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Long QT syndrome 3 (MIM#603830);Brugada syndrome 1, MIM# 601144 False 2 0;100;0 1.116 True ENSG00000183873 ENSG00000183873 HGNC:10593 SDHAF2 gene SDHAF2 BabySeq Category B gene;Expert Review Amber BabyScreen+ newborn screening Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Hereditary Paraganglioma-Pheochromocytoma Syndromes False 2 0;0;0 1.116 False ENSG00000167985 ENSG00000167985 HGNC:26034 SDHB gene SDHB BabySeq Category B gene;Expert Review Amber BabyScreen+ newborn screening Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Hereditary Paraganglioma-Pheochromocytoma Syndromes False 2 0;0;0 1.116 False ENSG00000117118 ENSG00000117118 HGNC:10681 SDHC gene SDHC BabySeq Category B gene;Expert Review Amber BabyScreen+ newborn screening Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Hereditary Paraganglioma-Pheochromocytoma Syndromes False 2 0;0;0 1.116 False ENSG00000143252 ENSG00000143252 HGNC:10682 SGSH gene SGSH BabySeq Category A gene;Expert Review Amber BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal Mucopolysaccharidosis type IIIA (Sanfilippo A), MIM# 252900 31044143 False 2 0;50;50 1.116 True ENSG00000181523 ENSG00000181523 HGNC:10818 SLC16A1 gene SLC16A1 BabySeq Category C gene;BeginNGS;Expert Review Amber BabyScreen+ newborn screening Screening BOTH monoallelic and biallelic, autosomal or pseudoautosomal "Hyperinsulinemic hypoglycemia, familial, 7, MIM# 610021;Monocarboxylate transporter 1 deficiency" 20301549 False 2 50;50;0 1.116 True ENSG00000155380 ENSG00000155380 HGNC:10922 SLC16A2 gene SLC16A2 BabySeq Category A gene;Expert Review Amber BabyScreen+ newborn screening Screening X-LINKED: hemizygous mutation in males, biallelic mutations in females Allan-Herndon-Dudley syndrome, MIM# 300523 False 2 0;100;0 1.116 True ENSG00000147100 ENSG00000147100 HGNC:10923 SLC25A1 gene SLC25A1 BeginNGS;Expert Review Amber BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal Combined D-2- and L-2-hydroxyglutaric aciduria MIM#: 615182, MONDO:0014072;Myasthenic syndrome, congenital, 23, presynaptic, MIM#618197, MONDO:0032596 20301347 False 2 0;100;0 1.116 True ENSG00000100075 ENSG00000100075 HGNC:10979 SLC35C1 gene SLC35C1 BabySeq Category C gene;Expert Review Amber BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal Congenital disorder of glycosylation, type IIc, MIM# 266265, MONDO:0009953 29702557 False 2 0;100;0 1.116 True ENSG00000181830 ENSG00000181830 HGNC:20197 SLC39A14 gene SLC39A14 Expert Review Amber;Literature BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal Hypermanganesemia with dystonia 2, MIM# 617013 31089831 False 2 0;100;0 1.116 True ENSG00000104635 ENSG00000104635 HGNC:20858 SLC6A5 gene SLC6A5 BabySeq Category A gene;BeginNGS;Expert Review Amber BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal Hyperekplexia 3, MIM#614618 False 2 0;100;0 1.116 True ENSG00000165970 ENSG00000165970 HGNC:11051 SLC6A8 gene SLC6A8 BabySeq Category A gene;Expert Review Amber BabyScreen+ newborn screening Screening X-LINKED: hemizygous mutation in males, biallelic mutations in females Cerebral creatine deficiency syndrome 1, MIM# 300352 24953403 False 2 0;50;50 1.116 True ENSG00000130821 ENSG00000130821 HGNC:11055 SLC9A3 gene SLC9A3 Expert Review Amber;Literature BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal Diarrhoea 8, secretory sodium, congenital, MiM# 616868 False 2 0;100;0 1.116 True ENSG00000066230 ENSG00000066230 HGNC:11073 SMARCAL1 gene SMARCAL1 BabySeq Category A gene;Expert Review Amber BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal Schimke immune-osseous dysplasia MIM# 242900 False 2 0;100;0 1.116 True ENSG00000138375 ENSG00000138375 HGNC:11102 SNTA1 gene SNTA1 BabySeq Category B gene;Expert Review Amber BabyScreen+ newborn screening Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Long QT syndrome False 2 0;0;0 1.116 False ENSG00000101400 ENSG00000101400 HGNC:11167 SOX3 gene SOX3 Expert list;Expert Review Amber BabyScreen+ newborn screening Screening X-LINKED: hemizygous mutation in males, biallelic mutations in females Panhypopituitarism, X-linked MIM#312000 PMID: 31678974, PMID: 15800844 False 2 0;100;0 1.116 True ENSG00000134595 ENSG00000134595 HGNC:11199 SP7 gene SP7 BabySeq Category C gene;Expert Review Amber BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal Osteogenesis imperfecta, type XII, MIM# 613849 36881265 False 2 0;100;0 1.116 True ENSG00000170374 ENSG00000170374 HGNC:17321 SPTLC1 gene SPTLC1 BabySeq Category A gene;Expert Review Amber BabyScreen+ newborn screening Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Neuropathy, hereditary sensory and autonomic, type IA, MIM# 162400 False 2 0;100;0 1.116 True ENSG00000090054 ENSG00000090054 HGNC:11277 STK11 gene STK11 BabySeq Category A gene;Expert Review Amber BabyScreen+ newborn screening Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Peutz-Jeghers syndrome, MIM# 175200 20301443 False 2 0;50;50 1.116 True ENSG00000118046 ENSG00000118046 HGNC:11389 STRC gene STRC BabySeq Category A gene;Expert Review Amber BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal Deafness, autosomal recessive 16, MIM# 603720 False 2 0;100;0 1.116 True ENSG00000242866 ENSG00000242866 HGNC:16035 SUOX gene SUOX BabySeq Category A gene;Expert Review Amber BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal Sulfite oxidase deficiency, MIM# 272300 False 2 0;100;0 1.116 True ENSG00000139531 ENSG00000139531 HGNC:11460 TECRL gene TECRL ClinGen;Expert Review Amber BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal "Ventricular tachycardia, catecholaminergic polymorphic, 3, MIM# 614021" False 2 0;100;0 1.116 True ENSG00000205678 ENSG00000205678 HGNC:27365 TERC gene TERC BabySeq Category B gene;Expert Review Amber BabyScreen+ newborn screening Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Dyskeratosis congenita False 2 0;0;0 1.116 False ENSG00000270141 ENSG00000270141 HGNC:11727 TERT gene TERT BabySeq Category B gene;Expert Review Amber BabyScreen+ newborn screening Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Dyskeratosis congenita False 2 0;0;0 1.116 False ENSG00000164362 ENSG00000164362 HGNC:11730 TINF2 gene TINF2 BabySeq Category B gene;Expert Review Amber BabyScreen+ newborn screening Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Dyskeratosis congenita False 2 0;0;0 1.116 False ENSG00000092330 ENSG00000092330 HGNC:11824 TMEM165 gene TMEM165 Expert list;Expert Review Amber BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal Congenital disorder of glycosylation, type IIk MIM#614727 PMID: 28323990, PMID: 35693943, PMID: 22683087 False 2 0;100;0 1.116 True ENSG00000134851 ENSG00000134851 HGNC:30760 TNFRSF11B gene TNFRSF11B BabySeq Category A gene;Expert Review Amber BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal Paget disease of bone 5, juvenile-onset MIM#239000 25108083;34166796;29080812 False 2 0;100;0 1.116 True ENSG00000164761 ENSG00000164761 HGNC:11909 TNFSF11 gene TNFSF11 BabySeq Category A gene;Expert Review Amber BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal Osteopetrosis, autosomal recessive 2 MIM#259710 17632511;36031188;32940787 False 2 0;50;50 1.116 True ENSG00000120659 ENSG00000120659 HGNC:11926 TNNC1 gene TNNC1 BabySeq Category B gene;Expert Review Amber BabyScreen+ newborn screening Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Cardiomyopathy, dilated False 2 0;0;0 1.116 False ENSG00000114854 ENSG00000114854 HGNC:11943 TNNI3 gene TNNI3 BabySeq Category B gene;Expert Review Amber BabyScreen+ newborn screening Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Familial hypertrophic cardiomyopathy;Cardiomyopathy, dilated False 2 0;0;0 1.116 False ENSG00000129991 ENSG00000129991 HGNC:11947 TNNT2 gene TNNT2 BabySeq Category B gene;Expert Review Amber BabyScreen+ newborn screening Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Familial hypertrophic cardiomyopathy;Cardiomyopathy, dilated False 2 0;0;0 1.116 False ENSG00000118194 ENSG00000118194 HGNC:11949 TOP2B gene TOP2B Expert list;Expert Review Amber BabyScreen+ newborn screening Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted B-cell immunodeficiency, distal limb anomalies, and urogenital malformations MIM#609296 PMID: 31409799, PMID: 35063500, PMID: 32128574, PMID: 33459963 False 2 0;100;0 1.116 True ENSG00000077097 ENSG00000077097 HGNC:11990 TPM1 gene TPM1 BabySeq Category B gene;Expert Review Amber BabyScreen+ newborn screening Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Cardiomyopathy, hypertrophic False 2 0;0;0 1.116 False ENSG00000140416 ENSG00000140416 HGNC:12010 TRDN gene TRDN BabySeq Category C gene;Expert Review Amber BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal Cardiac arrhythmia syndrome, with or without skeletal muscle weakness, MIM# 615441 False 2 0;100;0 1.116 True ENSG00000186439 ENSG00000186439 HGNC:12261 TREX1 gene TREX1 BabySeq Category A gene;Expert Review Amber BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal Aicardi-Goutieres syndrome 1 MIM#225750 20301648;32877590 False 2 0;100;0 1.116 True ENSG00000213689 ENSG00000213689 HGNC:12269 TRNT1 gene TRNT1 Expert list;Expert Review Amber BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal Sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay MIM#616084 PMID: 25193871, PMID: 23553769, PMID: 33936027, PMID: 26494905 False 2 0;100;0 1.116 True ENSG00000072756 ENSG00000072756 HGNC:17341 TRPM4 gene TRPM4 BabySeq Category A gene;Expert Review Amber BabyScreen+ newborn screening Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Progressive familial heart block, type IB 604559 19726882;33381229 False 2 0;100;0 1.116 True ENSG00000130529 ENSG00000130529 HGNC:17993 TTN gene TTN BabySeq Category A gene;BabySeq Category B gene;Expert Review Amber BabyScreen+ newborn screening Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Centronuclear myopathy;Cardiomyopathy, dilated False 2 0;0;0 1.116 False ENSG00000155657 ENSG00000155657 HGNC:12403 UNG gene UNG Expert list;Expert Review Amber BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal Immunodeficiency with hyper IgM, type 5 MIM#608106 PubMed: 12958596, PMID: 15967827, PMID: 19202054, PMID: 16860315 False 2 0;50;50 1.116 True ENSG00000076248 ENSG00000076248 HGNC:12572 USP18 gene USP18 Expert list;Expert Review Amber BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal "Pseudo-TORCH syndrome 2 MIM#617397" PMID: 31940699, 27325888, 12833411 False 2 0;100;0 1.116 True ENSG00000184979 ENSG00000184979 HGNC:12616 VCL gene VCL BabySeq Category B gene;Expert Review Amber BabyScreen+ newborn screening Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Cardiomyopathy, dilated False 2 0;0;0 1.116 False ENSG00000035403 ENSG00000035403 HGNC:12665 VWF gene VWF BabySeq Category B gene;Expert Review Amber BabyScreen+ newborn screening Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted von Willebrand disease False 2 0;0;0 1.116 False ENSG00000110799 ENSG00000110799 HGNC:12726 ZBTB24 gene ZBTB24 Expert list;Expert Review Amber BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal Immunodeficiency-centromeric instability-facial anomalies syndrome 2 MIM#614069 PMID: 28128455, 21906047, 21596365, 23486536 False 2 0;100;0 1.116 True ENSG00000112365 ENSG00000112365 HGNC:21143