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 AARS gene AARS BabySeq Category A gene;Expert Review Red BabyScreen+ newborn screening Screening BOTH monoallelic and biallelic, autosomal or pseudoautosomal Epileptic encephalopathy, early infantile, 29, MIM# 616339;Charcot-Marie-Tooth disease, axonal, type 2N, MIM# 613287 False 1 0;0;100 1.116 True ENSG00000090861 ENSG00000090861 HGNC:20 AARS2 gene AARS2 BabySeq Category C gene;Expert Review Red BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal Leukoencephalopathy, and ovarian failure in females False 1 0;0;0 1.116 False ENSG00000124608 ENSG00000124608 HGNC:21022 ABAT gene ABAT BabySeq Category C gene;Expert Review Red BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal GABA-transaminase deficiency False 1 0;0;0 1.116 False ENSG00000183044 ENSG00000183044 HGNC:23 ABCA12 gene ABCA12 BabySeq Category A gene;Expert Review Red BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal Ichthyosis, congenital, autosomal recessive 4A (MIM#601277);Ichthyosis, congenital, autosomal recessive 4B (harlequin) (MIM#242500) False 1 0;0;100 1.116 True ENSG00000144452 ENSG00000144452 HGNC:14637 ABCA3 gene ABCA3 BabySeq Category A gene;Expert Review Red BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal Surfactant metabolism dysfunction, pulmonary, 3, MIM# 610921 False 1 0;0;100 1.116 True ENSG00000167972 ENSG00000167972 HGNC:33 ABCA4 gene ABCA4 BabySeq Category A gene;Expert Review Red BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal Cone-rod dystrophy 3, 604116;Fundus flavimaculatus, 248200;Retinal dystrophy, early-onset severe, 248200;Retinitis pigmentosa 19, 601718;Stargardt disease 1, 248200 False 1 0;0;100 1.116 True ENSG00000198691 ENSG00000198691 HGNC:34 ABCB11 gene ABCB11 BabySeq Category A gene;Expert Review Red BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal Cholestasis, progressive familial intrahepatic 2, MIM# 601847;Cholestasis, benign recurrent intrahepatic, 2, MIM# 605479 False 1 0;0;100 1.116 True ENSG00000073734 ENSG00000073734 HGNC:42 ABCB4 gene ABCB4 BabySeq Category A gene;Expert Review Red BabyScreen+ newborn screening Screening BOTH monoallelic and biallelic, autosomal or pseudoautosomal Cholestasis, progressive familial intrahepatic 3 MIM#602347;disorder of bile acid metabolism;Cholestasis, intrahepatic, of pregnancy, 3 (MIM#614972);Gallbladder disease 1 (MIM#600803) False 1 0;0;100 1.116 True ENSG00000005471 ENSG00000005471 HGNC:45 ABCB7 gene ABCB7 BabySeq Category C gene;Expert Review Red BabyScreen+ newborn screening Screening X-LINKED: hemizygous mutation in males, biallelic mutations in females Sideroblastic anaemia and ataxia False 1 0;0;0 1.116 False ENSG00000131269 ENSG00000131269 HGNC:48 ABCC2 gene ABCC2 BabySeq Category C gene;Expert Review Red BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal Dubin-Johnson syndrome, MIM# 237500 11477083;30344695 False 1 0;0;100 1.116 True ENSG00000023839 ENSG00000023839 HGNC:53 ABCC9 gene ABCC9 BabySeq Category A gene;BabySeq Category B gene;BabySeq Category C gene;Expert Review Red BabyScreen+ newborn screening Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Atrial fibrillation, familial;Cardiomyopathy, dilated;Hypertrichotic osteochondrodysplasia False 1 0;0;0 1.116 False ENSG00000069431 ENSG00000069431 HGNC:60 ABHD12 gene ABHD12 Expert list;Expert Review Red BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract MIM#612674 False 1 0;0;100 1.116 True ENSG00000100997 ENSG00000100997 HGNC:15868 ACAD8 gene ACAD8 BabySeq Category A gene;Expert Review Red BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal Isobutyryl-CoA dehydrogenase deficiency MIM#611283 False 1 0;0;100 1.116 True ENSG00000151498 ENSG00000151498 HGNC:87 ACADL gene ACADL BabySeq Category C gene;Expert Review Red BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal Sudden infant death False 1 0;0;0 1.116 False ENSG00000115361 ENSG00000115361 HGNC:88 ACADS gene ACADS BabySeq Category C gene;Expert Review Red BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal Acyl-CoA dehydrogenase, short-chain, deficiency of 201470 False 1 0;0;100 1.116 True ENSG00000122971 ENSG00000122971 HGNC:90 ACADSB gene ACADSB BabySeq Category C gene;Expert Review Red BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal 2-methylbutyrylglycinuria MIM#610006 False 1 0;0;100 1.116 True ENSG00000196177 ENSG00000196177 HGNC:91 ACBD5 gene ACBD5 BabySeq Category C gene;Expert Review Red BabyScreen+ newborn screening Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Thrombocytopaenia False 1 0;0;0 1.116 False ENSG00000107897 ENSG00000107897 HGNC:23338 ACE gene ACE BabySeq Category A gene;Expert Review Red BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal Renal tubular dysgenesis, MIM# 267430 16116425;22095942 False 1 0;0;100 1.116 True ENSG00000159640 ENSG00000159640 HGNC:2707 ACO2 gene ACO2 BabySeq Category C gene;Expert Review Red BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal Cerebellar-retinal degeneration, infantile False 1 0;0;0 1.116 False ENSG00000100412 ENSG00000100412 HGNC:118 ACOX1 gene ACOX1 BabySeq Category A gene;Expert Review Red BabyScreen+ newborn screening Screening BOTH monoallelic and biallelic, autosomal or pseudoautosomal Peroxisomal acyl-CoA oxidase deficiency, MIM# 264470;Mitchell syndrome, MIM# 618960 32169171;17458872 False 1 0;0;100 1.116 True ENSG00000161533 ENSG00000161533 HGNC:119 ACSF3 gene ACSF3 BabySeq Category A gene;Expert Review Red BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal Combined malonic and methylmalonic aciduria 21841779;30740739 False 1 0;0;0 1.116 False ENSG00000176715 ENSG00000176715 HGNC:27288 ACTA1 gene ACTA1 BabySeq Category A gene;BabySeq Category C gene;Expert Review Red BabyScreen+ newborn screening Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Nemaline myopathy;Congenital myopathy with fiber type disproportion False 1 0;0;0 1.116 False ENSG00000143632 ENSG00000143632 HGNC:129 ACTB gene ACTB BabySeq Category A gene;BabySeq Category C gene;Expert Review Red BabyScreen+ newborn screening Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Baraitser-Winter syndrome;Neutrophil dysfunction and recurrent infection False 1 0;0;0 1.116 False ENSG00000075624 ENSG00000075624 HGNC:132 ACTC1 gene ACTC1 BabySeq Category B gene;BabySeq Category C gene;Expert Review Red BabyScreen+ newborn screening Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Atrial septal defect;Cardiomyopathy, familial hypertrophic;Left ventricular noncompaction;Cardiomyopathy, dilated False 1 0;0;0 1.116 False ENSG00000159251 ENSG00000159251 HGNC:143 ACTG1 gene ACTG1 BabySeq Category A gene;Expert Review Red BabyScreen+ newborn screening Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Baraitser-Winter syndrome 2MIM#614583;Deafness, autosomal dominant 20/26 MIM#604717 False 1 0;0;100 1.116 True ENSG00000184009 ENSG00000184009 HGNC:144 ACTG2 gene ACTG2 BabySeq Category A gene;Expert Review Red BabyScreen+ newborn screening Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Visceral myopathy, MIM#155310;Megacystis-microcolon-intestinal hypoperistalsis syndrome 5, MIM# 619431 False 1 0;0;100 1.116 True ENSG00000163017 ENSG00000163017 HGNC:145 ACTN1 gene ACTN1 BabySeq Category A gene;Expert Review Red BabyScreen+ newborn screening Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Bleeding disorder, platelet-type, 15, MIM# 615193 False 1 0;0;100 1.116 True ENSG00000072110 ENSG00000072110 HGNC:163 ACTN2 gene ACTN2 BabySeq Category B gene;BabySeq Category C gene;Expert Review Red BabyScreen+ newborn screening Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Cardiomyopathy, familial hypertrophic;Cardiomyopathy, dilated False 1 0;0;0 1.116 False ENSG00000077522 ENSG00000077522 HGNC:164 ACTN4 gene ACTN4 BabySeq Category A gene;Expert Review Red BabyScreen+ newborn screening Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Glomerulosclerosis, focal segmental, 1, MIM#603278 False 1 0;0;100 1.116 True ENSG00000130402 ENSG00000130402 HGNC:166 ACVR1 gene ACVR1 BabySeq Category A gene;Expert Review Red BabyScreen+ newborn screening Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Fibrodysplasia ossificans progressiva, MIM# 135100 16642017;29089047;35384641 False 1 0;0;100 1.116 True ENSG00000115170 ENSG00000115170 HGNC:171 ACVR2B gene ACVR2B BabySeq Category C gene;Expert Review Red BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal Left-right axis malformation False 1 0;0;0 1.116 False ENSG00000114739 ENSG00000114739 HGNC:174 ADAM17 gene ADAM17 BabySeq Category C gene;Expert Review Red BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal Neonatal inflammatory skin and bowel disease False 1 0;0;0 1.116 False ENSG00000151694 ENSG00000151694 HGNC:195 ADAMTS2 gene ADAMTS2 BabySeq Category C gene;Expert Review Red BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal Ehlers-Danlos syndrome VIIc False 1 0;0;0 1.116 False ENSG00000087116 ENSG00000087116 HGNC:218 ADAMTSL2 gene ADAMTSL2 BabySeq Category A gene;Expert Review Red BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal Geleophysic dysplasia 1, MIM# 231050 False 1 0;0;100 1.116 True ENSG00000197859 ENSG00000197859 HGNC:14631 ADGRG1 gene ADGRG1 BabySeq Category A gene;Expert Review Red BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal Polymicrogyria, bilateral frontoparietal, MIM#606854 False 1 0;0;100 1.116 True ENSG00000205336 ENSG00000205336 HGNC:4512 ADK gene ADK BabySeq Category A gene;Expert Review Red BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal Hypermethioninemia due to adenosine kinase deficiency, MIM# 614300 21963049;17120046;33309011 False 1 0;0;100 1.116 True ENSG00000156110 ENSG00000156110 HGNC:257 AGA gene AGA BabySeq Category A gene;Expert Review Red BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal Aspartylglucosaminuria, MIM# 208400 MONDO:0008830 False 1 0;0;100 1.116 True ENSG00000038002 ENSG00000038002 HGNC:318 AGPS gene AGPS BabySeq Category C gene;Expert Review Red BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal Rhizomelic chondrodysplasia punctata, type 3 False 1 0;0;0 1.116 False ENSG00000018510 ENSG00000018510 HGNC:327 AGT gene AGT BabySeq Category C gene;Expert Review Red BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal Renal tubular dysgenesis False 1 0;0;0 1.116 False ENSG00000135744 ENSG00000135744 HGNC:333 AGTR1 gene AGTR1 BabySeq Category C gene;Expert Review Red BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal Renal tubular dysgenesis False 1 0;0;0 1.116 False ENSG00000144891 ENSG00000144891 HGNC:336 AHI1 gene AHI1 BabySeq Category A gene;Expert Review Red BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal Joubert syndrome 3, MIM# 608629 15322546;15467982;16155189 False 1 0;0;100 1.116 True ENSG00000135541 ENSG00000135541 HGNC:21575 AHSP gene AHSP BabySeq Category C gene;Expert Review Red BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal Thalassaemia False 1 0;0;0 1.116 False ENSG00000169877 ENSG00000169877 HGNC:18075 AIFM1 gene AIFM1 BabySeq Category A gene;Expert Review Red BabyScreen+ newborn screening Screening X-LINKED: hemizygous mutation in males, biallelic mutations in females Combined oxidative phosphorylation deficiency 6, 300816;Cowchock syndrome, 310490;Deafness, X-linked 5, 300614;Spondyloepimetaphyseal dysplasia, X-linked, with hypomyelinating leukodystrophy, 300232 False 1 0;0;100 1.116 True ENSG00000156709 ENSG00000156709 HGNC:8768 AIP gene AIP BabySeq Category B gene;Expert Review Red BabyScreen+ newborn screening Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Pituitary adenoma predisposition, MIM# 102200 False 1 0;0;100 1.116 True ENSG00000110711 ENSG00000110711 HGNC:358 AK1 gene AK1 BabySeq Category C gene;Expert Review Red BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal Hemolytic anemia due to adenylate kinase deficiency False 1 0;0;0 1.116 False ENSG00000106992 ENSG00000106992 HGNC:361 AKAP9 gene AKAP9 BabySeq Category C gene;Expert Review Red BabyScreen+ newborn screening Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Long QT syndrome False 1 0;0;0 1.116 False ENSG00000127914 ENSG00000127914 HGNC:379 AKT2 gene AKT2 BabySeq Category C gene;Expert Review Red BabyScreen+ newborn screening Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Severe insulin resistance and diabetes mellitus False 1 0;0;0 1.116 False ENSG00000105221 ENSG00000105221 HGNC:392 AKT3 gene AKT3 BabySeq Category C gene;Expert Review Red BabyScreen+ newborn screening Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome False 1 0;0;0 1.116 False ENSG00000117020 ENSG00000117020 HGNC:393 ALAS2 gene ALAS2 BabySeq Category A gene;Expert Review Red BabyScreen+ newborn screening Screening X-LINKED: hemizygous mutation in males, biallelic mutations in females Anaemia, sideroblastic, 1, MIM# 300751;Protoporphyria, erythropoietic, X-linked, MIM# 300752 False 1 0;0;100 1.116 True ENSG00000158578 ENSG00000158578 HGNC:397 ALB gene ALB BabySeq Category A gene;Expert Review Red BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal Analbuminemia, MIM# 616000 False 1 0;0;100 1.116 True ENSG00000163631 ENSG00000163631 HGNC:399 ALDH18A1 gene ALDH18A1 BabySeq Category A gene;Expert Review Red BabyScreen+ newborn screening Screening BOTH monoallelic and biallelic, autosomal or pseudoautosomal Cutis laxa, autosomal recessive, type IIIA MIM#219150;Spastic paraplegia 9A, autosomal dominant MIM#601162;Spastic paraplegia 9B, autosomal recessive MIM#616586;Cutis laxa, autosomal dominant 3 MIM#616603;disorders of ornithine or proline metabolism False 1 0;0;100 1.116 True ENSG00000059573 ENSG00000059573 HGNC:9722 ALDH1A2 gene ALDH1A2 BabySeq Category C gene;Expert Review Red BabyScreen+ newborn screening Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Tetralogy of Fallot False 1 0;0;0 1.116 False ENSG00000128918 ENSG00000128918 HGNC:15472 ALDH3A2 gene ALDH3A2 BabySeq Category A gene;Expert Review Red BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal Sjogren-Larsson syndrome MIM#270200 False 1 0;0;100 1.116 True ENSG00000072210 ENSG00000072210 HGNC:403 ALDH5A1 gene ALDH5A1 BabySeq Category A gene;Expert Review Red BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal Succinic semialdehyde dehydrogenase deficiency, MIM# 271980 False 1 0;0;100 1.116 True ENSG00000112294 ENSG00000112294 HGNC:408 ALDOA gene ALDOA BabySeq Category C gene;Expert Review Red BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal Aldolase A deficiency False 1 0;0;0 1.116 False ENSG00000149925 ENSG00000149925 HGNC:414 ALG1 gene ALG1 BabySeq Category A gene;Expert Review Red BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal Congenital disorder of glycosylation, type Ik 608540 False 1 0;0;100 1.116 True ENSG00000033011 ENSG00000033011 HGNC:18294 ALG11 gene ALG11 BabySeq Category C gene;Expert Review Red BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal Congenital disorder of glycosylation type 1P False 1 0;0;0 1.116 False ENSG00000253710 ENSG00000253710 HGNC:32456 ALG12 gene ALG12 BabySeq Category A gene;Expert Review Red BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal Congenital disorder of glycosylation, type Ig, MIM# 607143 False 1 0;0;100 1.116 True ENSG00000182858 ENSG00000182858 HGNC:19358 ALG14 gene ALG14 BeginNGS;Expert Review Red BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal Myasthenic syndrome, congenital, 15, without tubular aggregates 616227;Intellectual developmental disorder with epilepsy, behavioral abnormalities, and coarse facies (IDDEBF), MIM#619031;Myopathy, epilepsy, and progressive cerebral atrophy, MIM# 619036;Disorder of N-glycosylation False 1 0;0;100 1.116 True ENSG00000172339 ENSG00000172339 HGNC:28287 ALG2 gene ALG2 BabySeq Category C gene;Expert Review Red BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal Congenital disorder of glycosylation, type Ii False 1 0;0;0 1.116 False ENSG00000119523 ENSG00000119523 HGNC:23159 ALG3 gene ALG3 BabySeq Category A gene;Expert Review Red BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal Congenital disorder of glycosylation, type Id, MIM# 601110 False 1 0;0;100 1.116 True ENSG00000214160 ENSG00000214160 HGNC:23056 ALG6 gene ALG6 BabySeq Category A gene;Expert Review Red BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal Congenital disorder of glycosylation, type Ic (MIM#603147) False 1 0;0;100 1.116 True ENSG00000088035 ENSG00000088035 HGNC:23157 ALG8 gene ALG8 BabySeq Category A gene;Expert Review Red BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal Congenital disorder of glycosylation, type Ih, MIM# 608104 False 1 0;0;100 1.116 True ENSG00000159063 ENSG00000159063 HGNC:23161 ALG9 gene ALG9 BabySeq Category C gene;Expert Review Red BabyScreen+ newborn screening Screening BOTH monoallelic and biallelic, autosomal or pseudoautosomal Gillessen-Kaesbach-Nishimura syndrome, MIM# 263210;Congenital disorder of glycosylation, type Il, MIM#608776 26453364;25966638;28932688 False 1 0;0;100 1.116 True ENSG00000086848 ENSG00000086848 HGNC:15672 ALK gene ALK Expert list;Expert Review Red BabyScreen+ newborn screening Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted {Neuroblastoma, susceptibility to, 3} MIM#613014 PMID: 22071890 False 1 0;0;100 1.116 True ENSG00000171094 ENSG00000171094 HGNC:427 ALMS1 gene ALMS1 BabySeq Category A gene;Expert Review Red BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal Alstrom syndrome, MIM# 203800 False 1 0;0;100 1.116 True ENSG00000116127 ENSG00000116127 HGNC:428 ALOX12B gene ALOX12B BabySeq Category A gene;Expert Review Red BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal Ichthyosis, congenital, autosomal recessive 2, MIM# 242100 False 1 0;0;100 1.116 True ENSG00000179477 ENSG00000179477 HGNC:430 ALOXE3 gene ALOXE3 BabySeq Category A gene;Expert Review Red BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal Ichthyosis, congenital, autosomal recessive 3, MIM#606545 False 1 0;0;100 1.116 True ENSG00000179148 ENSG00000179148 HGNC:13743 ALS2 gene ALS2 BabySeq Category A gene;Expert Review Red BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal Infantile onset ascending spastic paralysis (MIM#607225);Juvenile amyotrophic lateral sclerosis 2 (MIM#205100);Juvenile primary lateral sclerosis (MIM#606353) False 1 0;0;100 1.116 True ENSG00000003393 ENSG00000003393 HGNC:443 ALX4 gene ALX4 BabySeq Category A gene;Expert Review Red BabyScreen+ newborn screening Screening BOTH monoallelic and biallelic, autosomal or pseudoautosomal Frontonasal dysplasia 2 MIM# 613451;Parietal foramina 2 MIM# 609597;{Craniosynostosis 5, susceptibility to} MIM#615529 False 1 0;0;100 1.116 True ENSG00000052850 ENSG00000052850 HGNC:450 AMELX gene AMELX BabySeq Category A gene;Expert Review Red BabyScreen+ newborn screening Screening X-LINKED: hemizygous mutation in males, biallelic mutations in females Amelogenesis imperfecta, type 1E, MIM# 301200 False 1 0;0;100 1.116 True ENSG00000125363 ENSG00000125363 HGNC:461 AMPD1 gene AMPD1 BabySeq Category C gene;Expert Review Red BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal Adenosine monophosphate deaminase deficiency False 1 0;0;0 1.116 False ENSG00000116748 ENSG00000116748 HGNC:468 ANK1 gene ANK1 BabySeq Category A gene;Expert Review Red BabyScreen+ newborn screening Screening BOTH monoallelic and biallelic, autosomal or pseudoautosomal Spherocytosis, type 1 MIM#182900 False 1 0;0;100 1.116 True ENSG00000029534 ENSG00000029534 HGNC:492 ANK2 gene ANK2 BabySeq Category B gene;Expert Review Red BabyScreen+ newborn screening Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Complex neurodevelopmental disorder, MONDO:0100038 False 1 0;0;100 1.116 True ENSG00000145362 ENSG00000145362 HGNC:493 ANKH gene ANKH BabySeq Category A gene;Expert Review Red BabyScreen+ newborn screening Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Craniometaphyseal dysplasia MIM#123000 False 1 0;0;100 1.116 True ENSG00000154122 ENSG00000154122 HGNC:15492 ANKRD1 gene ANKRD1 BabySeq Category B gene;BabySeq Category C gene;Expert Review Red BabyScreen+ newborn screening Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Cardiomyopathy, hypertrophic;Cardiomyopathy, dilated False 1 0;0;0 1.116 False ENSG00000148677 ENSG00000148677 HGNC:15819 ANKRD26 gene ANKRD26 BabySeq Category A gene;Expert Review Red BabyScreen+ newborn screening Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Thrombocytopaenia 2, MIM# 188000 False 1 0;0;100 1.116 True ENSG00000107890 ENSG00000107890 HGNC:29186 ANO10 gene ANO10 BabySeq Category A gene;Expert Review Red BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal Spinocerebellar ataxia, autosomal recessive 10, MIM#613728 False 1 0;0;100 1.116 True ENSG00000160746 ENSG00000160746 HGNC:25519 ANO5 gene ANO5 BabySeq Category A gene;BabySeq Category C gene;Expert Review Red BabyScreen+ newborn screening Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Muscular dystrophy, limb-girdle, type 2L;Gnathodiaphyseal dysplasia False 1 0;0;0 1.116 False ENSG00000171714 ENSG00000171714 HGNC:27337 ANTXR2 gene ANTXR2 BabySeq Category A gene;Expert Review Red BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal Hyaline fibromatosis syndrome, MIM# 228600;MONDO:0009229 False 1 0;0;100 1.116 True ENSG00000163297 ENSG00000163297 HGNC:21732 AP1S3 gene AP1S3 BabySeq Category C gene;Expert Review Red BabyScreen+ newborn screening Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Pustular psoriasis False 1 0;0;0 1.116 False ENSG00000152056 ENSG00000152056 HGNC:18971 AP4B1 gene AP4B1 Expert Review;Expert Review Red BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal Spastic paraplegia 47, autosomal recessive, MIM# 614066 24700674;32979048;32166732;32171285;22290197;21620353;31525725;24781758 False 1 0;0;100 1.116 True ENSG00000134262 ENSG00000134262 HGNC:572 AP4E1 gene AP4E1 Expert Review;Expert Review Red BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal Spastic paraplegia 51, autosomal recessive, MIM# 613744 20972249;32979048;23472171;21620353;21937992 False 1 0;0;100 1.116 True ENSG00000081014 ENSG00000081014 HGNC:573 AP4M1 gene AP4M1 BabySeq Category C gene;Expert Review Red BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal "Spastic paraplegia 50, autosomal recessive, MIM# 612936" 31915823;32979048;19559397;25496299;21937992;28464862;29096665 False 1 0;0;100 1.116 True ENSG00000221838 ENSG00000221838 HGNC:574 APC gene APC BabySeq Category A gene;Expert Review Red BabyScreen+ newborn screening Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Adenomatous polyposis coli, MIM# 175100 False 1 0;0;100 1.116 True ENSG00000134982 ENSG00000134982 HGNC:583 APOA5 gene APOA5 Expert list;Expert Review Red BabyScreen+ newborn screening Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted "Hyperchylomicronaemia, late-onset, MIM# 144650" 23307945;31390500 False 1 0;0;100 1.116 True ENSG00000110243 ENSG00000110243 HGNC:17288 APOB gene APOB BabySeq Category A gene;Expert Review Red BabyScreen+ newborn screening Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Hypercholesterolaemia, familial, 2, MIM# 144010 False 1 0;0;100 1.116 True ENSG00000084674 ENSG00000084674 HGNC:603 APOE gene APOE BabySeq Category C gene;Expert Review Red BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal Sea-blue histiocyte disease False 1 0;0;0 1.116 False ENSG00000130203 ENSG00000130203 HGNC:613 APP gene APP BabySeq Category C gene;Expert Review Red BabyScreen+ newborn screening Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Alzheimer disease 1, familial False 1 0;0;0 1.116 False ENSG00000142192 ENSG00000142192 HGNC:620 APRT gene APRT BabySeq Category C gene;Expert Review Red BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal "Adenine phosphoribosyltransferase deficiency, MIM# 614723" False 1 0;0;100 1.116 True ENSG00000198931 ENSG00000198931 HGNC:626 APTX gene APTX BabySeq Category A gene;Expert Review Red BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal Ataxia, early-onset, with oculomotor apraxia and hypoalbuminaemia MIM#208920 30986824;26256098;11586299 False 1 0;0;100 1.116 True ENSG00000137074 ENSG00000137074 HGNC:15984 AR gene AR BabySeq Category A gene;BabySeq Category C gene;Expert Review Red BabyScreen+ newborn screening Screening X-LINKED: hemizygous mutation in males, biallelic mutations in females Hypospadias 1, X-linked MIM#30063;Androgen insensitivity MIM#300068;Androgen insensitivity, partial, with or without breast cancer MIM#312300 False 1 0;0;100 1.116 True ENSG00000169083 ENSG00000169083 HGNC:644 ARFGEF2 gene ARFGEF2 BabySeq Category A gene;Expert Review Red BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal Periventricular heterotopia with microcephaly (MIM#608097) False 1 0;0;100 1.116 True ENSG00000124198 ENSG00000124198 HGNC:15853 ARHGAP31 gene ARHGAP31 BabySeq Category C gene;Expert Review Red BabyScreen+ newborn screening Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Syndromic cutis aplasia & limb anomalies False 1 0;0;0 1.116 False ENSG00000031081 ENSG00000031081 HGNC:29216 ARHGEF9 gene ARHGEF9 BabySeq Category C gene;Expert Review Red BabyScreen+ newborn screening Screening X-LINKED: hemizygous mutation in males, biallelic mutations in females Hyperekplexia and epilepsy False 1 0;0;0 1.116 False ENSG00000131089 ENSG00000131089 HGNC:14561 ARID1A gene ARID1A BabySeq Category C gene;Expert Review Red BabyScreen+ newborn screening Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Coffin-Siris syndrome False 1 0;0;0 1.116 False ENSG00000117713 ENSG00000117713 HGNC:11110 ARID1B gene ARID1B BabySeq Category A gene;Expert Review Red BabyScreen+ newborn screening Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Coffin-Siris syndrome 1 MIM#135900 False 1 0;0;100 1.116 True ENSG00000049618 ENSG00000049618 HGNC:18040 ARL13B gene ARL13B BabySeq Category C gene;Expert Review Red BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal Joubert syndrome False 1 0;0;0 1.116 False ENSG00000169379 ENSG00000169379 HGNC:25419 ARMC4 gene ARMC4 BabySeq Category A gene;Expert Review Red BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal Ciliary dyskinesia, primary, 23, MIM# 615451 False 1 0;0;100 1.116 True ENSG00000169126 ENSG00000169126 HGNC:25583 ARSE gene ARSE BabySeq Category C gene;Expert Review Red BabyScreen+ newborn screening Screening X-LINKED: hemizygous mutation in males, biallelic mutations in females Chondrodysplasia punctata, X-linked recessive False 1 0;0;0 1.116 False ENSG00000157399 ENSG00000157399 HGNC:719 ARX gene ARX BabySeq Category A gene;Expert Review Red BabyScreen+ newborn screening Screening X-LINKED: hemizygous mutation in males, biallelic mutations in females Lissencephaly, X-linked 2, MIM# 300215 False 1 0;0;100 1.116 True ENSG00000004848 ENSG00000004848 HGNC:18060 ASCL1 gene ASCL1 BabySeq Category C gene;Expert Review Red BabyScreen+ newborn screening Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Congenital central hypoventilation False 1 0;0;0 1.116 False ENSG00000139352 ENSG00000139352 HGNC:738 ASNS gene ASNS BabySeq Category C gene;Expert Review Red BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal Microcephaly, intellectual disability, cerebral atrophy & intractable seizures False 1 0;0;0 1.116 False ENSG00000070669 ENSG00000070669 HGNC:753 ASPA gene ASPA BabySeq Category A gene;Expert Review Red BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal Canavan disease MIM#271900 False 1 0;0;100 1.116 True ENSG00000108381 ENSG00000108381 HGNC:756 ATIC gene ATIC BabySeq Category C gene;Expert Review Red BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal AICA-Ribosiduria False 1 0;0;0 1.116 False ENSG00000138363 ENSG00000138363 HGNC:794 ATM gene ATM BabySeq Category A gene;Expert Review Red BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal Ataxia-telangiectasia, MIM# 208900 False 1 0;0;100 1.116 True ENSG00000149311 ENSG00000149311 HGNC:795 ATN1 gene ATN1 BabySeq Category C gene;Expert Review Red BabyScreen+ newborn screening Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Dentatorubral-pallidoluysian atrophy 1 False 1 0;0;0 1.116 False ENSG00000111676 ENSG00000111676 HGNC:3033 ATP1A2 gene ATP1A2 BabySeq Category A gene;Expert Review Red BabyScreen+ newborn screening Screening BOTH monoallelic and biallelic, autosomal or pseudoautosomal Alternating hemiplegia of childhood 1, MIM#104290;Fetal akinesia, respiratory insufficiency, microcephaly, polymicrogyria, and dysmorphic facies, MIM# 619602;Developmental and epileptic encephalopathy 98, MIM# 619605 31608932;33880529 False 1 0;0;100 1.116 True ENSG00000018625 ENSG00000018625 HGNC:800 ATP1A3 gene ATP1A3 BabySeq Category C gene;Expert Review Red BabyScreen+ newborn screening Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Rapid-onset dystonia-parkinsonism False 1 0;0;0 1.116 False ENSG00000105409 ENSG00000105409 HGNC:801 ATP2A1 gene ATP2A1 BabySeq Category A gene;Expert Review Red BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal Brody myopathy, OMIM # 601003 False 1 0;0;100 1.116 True ENSG00000196296 ENSG00000196296 HGNC:811 ATP2B2 gene ATP2B2 Expert list;Expert Review Red BabyScreen+ newborn screening Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Deafness, autosomal dominant 82, MIM# 619804 30535804 False 1 0;0;100 1.116 True ENSG00000157087 ENSG00000157087 HGNC:815 ATP6AP2 gene ATP6AP2 BabySeq Category C gene;Expert Review Red BabyScreen+ newborn screening Screening X-LINKED: hemizygous mutation in males, biallelic mutations in females X-linked recessive intellectual deficit - epilepsy False 1 0;0;0 1.116 False ENSG00000182220 ENSG00000182220 HGNC:18305 ATP6V0A2 gene ATP6V0A2 BabySeq Category A gene;Expert Review Red BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal Cutis laxa, autosomal recessive, type IIA, MIM# 219200;Wrinkly skin syndrome, MIM#278250 False 1 0;0;100 1.116 True ENSG00000185344 ENSG00000185344 HGNC:18481 ATP8B1 gene ATP8B1 BabySeq Category A gene;Expert Review Red BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal Cholestasis, progressive familial intrahepatic 1, MIM# 211600;Cholestasis, benign recurrent intrahepatic, MIM# 243300 False 1 0;0;100 1.116 True ENSG00000081923 ENSG00000081923 HGNC:3706 ATR gene ATR BabySeq Category C gene;Expert Review Red BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal Seckel syndrome False 1 0;0;0 1.116 False ENSG00000175054 ENSG00000175054 HGNC:882 ATRX gene ATRX BabySeq Category A gene;Expert Review Red BabyScreen+ newborn screening Screening X-LINKED: hemizygous mutation in males, biallelic mutations in females ATR-X-related syndrome MONDO:0016980 False 1 0;0;100 1.116 True ENSG00000085224 ENSG00000085224 HGNC:886 AUH gene AUH BabySeq Category A gene;Expert Review Red BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal 3-methylglutaconic aciduria, type I , MIM#250950 False 1 0;0;100 1.116 True ENSG00000148090 ENSG00000148090 HGNC:890 AXL gene AXL BabySeq Category C gene;Expert Review Red BabyScreen+ newborn screening Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Hypogonadotropic hypogonadism False 1 0;0;0 1.116 False ENSG00000167601 ENSG00000167601 HGNC:905 B3GAT3 gene B3GAT3 BabySeq Category C gene;Expert Review Red BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal Multiple joint dislocations, short stature, craniofacial dysmorphism, and congenital heart defects False 1 0;0;0 1.116 False ENSG00000149541 ENSG00000149541 HGNC:923 B3GLCT gene B3GLCT BabySeq Category A gene;Expert Review Red BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal Peters-plus syndrome, MIM#261540 False 1 0;0;100 1.116 True ENSG00000187676 ENSG00000187676 HGNC:20207 B4GALT1 gene B4GALT1 BabySeq Category C gene;Expert Review Red BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal CDG syndrome type IId False 1 0;0;0 1.116 False ENSG00000086062 ENSG00000086062 HGNC:924 B9D2 gene B9D2 BabySeq Category C gene;Expert Review Red BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal Meckel syndrome False 1 0;0;0 1.116 False ENSG00000123810 ENSG00000123810 HGNC:28636 BAAT gene BAAT BabySeq Category A gene;Expert Review Red BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal Bile acid conjugation defect 1, MIM# 619232 False 1 0;0;100 1.116 True ENSG00000136881 ENSG00000136881 HGNC:932 BAG3 gene BAG3 BabySeq Category B gene;BabySeq Category C gene;Expert Review Red BabyScreen+ newborn screening Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Myopathy, myofibrillar;Cardiomyopathy, dilated False 1 0;0;0 1.116 False ENSG00000151929 ENSG00000151929 HGNC:939 BANF1 gene BANF1 BabySeq Category C gene;Expert Review Red BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal Progeroid syndrome False 1 0;0;0 1.116 False ENSG00000175334 ENSG00000175334 HGNC:17397 BARD1 gene BARD1 BabySeq Category C gene;Expert Review Red BabyScreen+ newborn screening Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Tetralogy of Fallot False 1 0;0;0 1.116 False ENSG00000138376 ENSG00000138376 HGNC:952 BBS1 gene BBS1 BabySeq Category A gene;Expert Review Red BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal Bardet-Biedl syndrome 1, MIM# 209900 False 1 0;0;100 1.116 True ENSG00000174483 ENSG00000174483 HGNC:966 BBS10 gene BBS10 BabySeq Category A gene;Expert Review Red BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal Bardet-Biedl syndrome 10, MIM# 615987 False 1 0;0;100 1.116 True ENSG00000179941 ENSG00000179941 HGNC:26291 BBS12 gene BBS12 BabySeq Category A gene;Expert Review Red BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal Bardet-Biedl syndrome 12, MIM# 615989 False 1 0;0;100 1.116 True ENSG00000181004 ENSG00000181004 HGNC:26648 BBS2 gene BBS2 BabySeq Category A gene;Expert Review Red BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal Bardet-Biedl syndrome 2, MIM# 615981 False 1 0;0;100 1.116 True ENSG00000125124 ENSG00000125124 HGNC:967 BBS4 gene BBS4 BabySeq Category A gene;Expert Review Red BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal Bardet-Biedl syndrome 4, MIM#615982 False 1 0;0;100 1.116 True ENSG00000140463 ENSG00000140463 HGNC:969 BBS5 gene BBS5 BabySeq Category A gene;Expert Review Red BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal Bardet-Biedl syndrome 5, MIM#615983 False 1 0;0;100 1.116 True ENSG00000163093 ENSG00000163093 HGNC:970 BBS7 gene BBS7 BabySeq Category A gene;Expert Review Red BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal Bardet-Biedl syndrome 7, MIM# 615984 False 1 0;0;100 1.116 True ENSG00000138686 ENSG00000138686 HGNC:18758 BBS9 gene BBS9 BabySeq Category A gene;Expert Review Red BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal Bardet-Biedl syndrome 9, MIM#615986 False 1 0;0;100 1.116 True ENSG00000122507 ENSG00000122507 HGNC:30000 BCL9 gene BCL9 BabySeq Category C gene;Expert Review Red BabyScreen+ newborn screening Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Congenital heart disease False 1 0;0;0 1.116 False ENSG00000116128 ENSG00000116128 HGNC:1008 BCS1L gene BCS1L BabySeq Category A gene;Expert Review Red BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal Bjornstad syndrome, MIM# 262000;Leigh syndrome, MIM# 256000;BCS1L-related mitochondrial disease False 1 0;0;100 1.116 True ENSG00000074582 ENSG00000074582 HGNC:1020 BDNF gene BDNF BabySeq Category C gene;Expert Review Red BabyScreen+ newborn screening Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Central hypoventilation syndrome False 1 0;0;0 1.116 False ENSG00000176697 ENSG00000176697 HGNC:1033 BICD2 gene BICD2 BabySeq Category A gene;Expert Review Red BabyScreen+ newborn screening Screening BOTH monoallelic and biallelic, autosomal or pseudoautosomal Spinal muscular atrophy, lower extremity-predominant, 2A, autosomal dominant, MIM# 615290;MONDO:0014121;Spinal muscular atrophy, lower extremity-predominant, 2B, autosomal dominant, MIM# 618291;Neurodevelopmental disorder (MONDO#0700092), BICD2-related 23664116;23664119;23664120;27751653;28635954;30054298;29528393;35896821 False 1 0;0;100 1.116 True ENSG00000185963 ENSG00000185963 HGNC:17208 BIN1 gene BIN1 BabySeq Category A gene;Expert Review Red BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal Centronuclear myopathy 2, MIM# 255200 False 1 0;0;100 1.116 True ENSG00000136717 ENSG00000136717 HGNC:1052 BLM gene BLM BabySeq Category A gene;Expert Review Red BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal Bloom syndrome, MIM# 210900 False 1 0;0;100 1.116 True ENSG00000197299 ENSG00000197299 HGNC:1058 BLOC1S3 gene BLOC1S3 BabySeq Category C gene;Expert Review Red BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal Hermansky-Pudlak syndrome 8 False 1 0;0;0 1.116 False ENSG00000189114 ENSG00000189114 HGNC:20914 BLOC1S6 gene BLOC1S6 BabySeq Category C gene;Expert Review Red BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal Hermansky-pudlak syndrome 9 False 1 0;0;0 1.116 False ENSG00000104164 ENSG00000104164 HGNC:8549 BMPR1A gene BMPR1A BabySeq Category A gene;BabySeq Category C gene;Expert Review Red BabyScreen+ newborn screening Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Polyposis, juvenile intestinal, MIM# 174900 False 1 0;0;100 1.116 True ENSG00000107779 ENSG00000107779 HGNC:1076 BMPR2 gene BMPR2 BabySeq Category B gene;Expert Review Red BabyScreen+ newborn screening Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Pulmonary hypertension, familial primary, 1, with or without HHT, MIM# 178600 False 1 0;0;100 1.116 True ENSG00000204217 ENSG00000204217 HGNC:1078 BNC2 gene BNC2 BabySeq Category C gene;Expert Review Red BabyScreen+ newborn screening Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Total anomalous pulmonary venous return False 1 0;0;0 1.116 False ENSG00000173068 ENSG00000173068 HGNC:30988 BPGM gene BPGM BabySeq Category C gene;Expert Review Red BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal Erythrocytosis due to bisphosphoglycerate mutase deficiency False 1 0;0;0 1.116 False ENSG00000172331 ENSG00000172331 HGNC:1093 BRAF gene BRAF BabySeq Category A gene;BabySeq Category C gene;Expert Review Red BabyScreen+ newborn screening Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Cardiofaciocutaneous syndrome, MIM# 115150;Noonan syndrome 7, MIM# 613706 False 1 0;0;100 1.116 True ENSG00000157764 ENSG00000157764 HGNC:1097 BVES gene BVES BabySeq Category C gene;Expert Review Red BabyScreen+ newborn screening Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Congenital heart disease False 1 0;0;0 1.116 False ENSG00000112276 ENSG00000112276 HGNC:1152 C8A gene C8A BeginNGS;Expert Review Red BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal "C8 deficiency, type I, MIM# 613790" False 1 0;0;100 1.116 True ENSG00000157131 ENSG00000157131 HGNC:1352 CACNA1A gene CACNA1A BabySeq Category A gene;Expert Review Red BabyScreen+ newborn screening Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Episodic ataxia, type 2, MIM# 108500 False 1 0;0;100 1.116 True ENSG00000141837 ENSG00000141837 HGNC:1388 CACNA1D gene CACNA1D BabySeq Category C gene;BeginNGS;Expert Review Red BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal "Primary aldosteronism, seizures, and neurologic abnormalities, MIM# 615474;Sinoatrial node dysfunction and deafness" False 1 0;0;0 1.116 False ENSG00000157388 ENSG00000157388 HGNC:1391 CACNA1F gene CACNA1F BabySeq Category A gene;Expert Review Red BabyScreen+ newborn screening Screening X-LINKED: hemizygous mutation in males, biallelic mutations in females Aland Island eye disease MIM#300600;Cone-rod dystrophy, X-linked, 3 MIM#300476;Night blindness, congenital stationary (incomplete), 2A, X-linked MIM#300071 False 1 0;0;100 1.116 True ENSG00000102001 ENSG00000102001 HGNC:1393 CACNA2D1 gene CACNA2D1 BabySeq Category C gene;Expert Review Red BabyScreen+ newborn screening Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Brugada syndrome False 1 0;0;0 1.116 False ENSG00000153956 ENSG00000153956 HGNC:1399 CACNB2 gene CACNB2 BabySeq Category C gene;Expert Review Red BabyScreen+ newborn screening Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Brugada syndrome False 1 0;0;0 1.116 False ENSG00000165995 ENSG00000165995 HGNC:1402 CAPN3 gene CAPN3 BabySeq Category A gene;Expert Review Red BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal Muscular dystrophy, limb-girdle, autosomal recessive 1, MIM# 253600 False 1 0;0;100 1.116 True ENSG00000092529 ENSG00000092529 HGNC:1480 CARS2 gene CARS2 BabySeq Category C gene;Expert Review Red BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal Epileptic encephalopathy False 1 0;0;0 1.116 False ENSG00000134905 ENSG00000134905 HGNC:25695 CASK gene CASK BabySeq Category A gene;Expert Review Red 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) FG syndrome 4 MIM#300422;Intellectual developmental disorder and microcephaly with pontine and cerebellar hypoplasia MIM#300749;Mental retardation, with or without nystagmus MIM#300422 False 1 0;0;100 1.116 True ENSG00000147044 ENSG00000147044 HGNC:1497 CASP10 gene CASP10 BabySeq Category C gene;Expert Review Red BabyScreen+ newborn screening Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Autoimmune lymphoproliferative syndrome II False 1 0;0;0 1.116 False ENSG00000003400 ENSG00000003400 HGNC:1500 CAV3 gene CAV3 BabySeq Category A gene;BabySeq Category C gene;Expert Review Red BabyScreen+ newborn screening Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Myopathy, distal, Tateyama type MIM#614321;Rippling muscle disease 2 MIM#606072;Creatine phosphokinase, elevated serum MIM#123320 False 1 0;0;100 1.116 True ENSG00000182533 ENSG00000182533 HGNC:1529 CAVIN4 gene CAVIN4 BabySeq Category C gene;Expert Review Red BabyScreen+ newborn screening Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Cardiomyopathy, dilated False 1 0;0;0 1.116 False ENSG00000170681 ENSG00000170681 HGNC:33742 CBL gene CBL BabySeq Category A gene;Expert Review Red BabyScreen+ newborn screening Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Noonan syndrome-like disorder with or without juvenile myelomonocytic leukaemia, MIM# 613563 False 1 0;0;100 1.116 True ENSG00000110395 ENSG00000110395 HGNC:1541 CC2D2A gene CC2D2A BabySeq Category A gene;Expert Review Red BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal Joubert syndrome 9, MIM# 612285;Meckel syndrome 6, MIM# 612284;COACH syndrome 2, MIM# 619111 False 1 0;0;100 1.116 True ENSG00000048342 ENSG00000048342 HGNC:29253 CCDC103 gene CCDC103 BabySeq Category C gene;Expert Review Red BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal Primary ciliary dyskinesia False 1 0;0;0 1.116 False ENSG00000167131 ENSG00000167131 HGNC:32700 CCDC39 gene CCDC39 BabySeq Category A gene;Expert Review Red BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal Ciliary dyskinesia, primary, 14, MIM# 613807 False 1 0;0;100 1.116 True ENSG00000145075 ENSG00000145075 HGNC:25244 CCDC40 gene CCDC40 BabySeq Category A gene;Expert Review Red BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal Ciliary dyskinesia, primary, 15, MIM#613808 False 1 0;0;100 1.116 True ENSG00000141519 ENSG00000141519 HGNC:26090 CCDC50 gene CCDC50 BabySeq Category C gene;Expert Review Red BabyScreen+ newborn screening Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Deafness, autosomal dominant 44 , MIM# 607453 27911912;24875298;17503326 False 1 0;0;0 1.116 False ENSG00000152492 ENSG00000152492 HGNC:18111 CCDC78 gene CCDC78 BabySeq Category C gene;Expert Review Red BabyScreen+ newborn screening Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Congenital myopathy with prominent internal nuclei and atypical cores False 1 0;0;0 1.116 False ENSG00000162004 ENSG00000162004 HGNC:14153 CCDC88C gene CCDC88C BabySeq Category C gene;Expert Review Red BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal Hydrocephalus False 1 0;0;0 1.116 False ENSG00000015133 ENSG00000015133 HGNC:19967 CD164 gene CD164 Expert list;Expert Review Red BabyScreen+ newborn screening Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Deafness, autosomal dominant 66 MIM#616969 False 1 0;0;100 1.116 True ENSG00000135535 ENSG00000135535 HGNC:1632 CD2AP gene CD2AP BabySeq Category C gene;Expert Review Red BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal Glomerulosclerosis, focal segmental, 3 False 1 0;0;0 1.116 False ENSG00000198087 ENSG00000198087 HGNC:14258 CD36 gene CD36 BabySeq Category C gene;Expert Review Red BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal Platelet glycoprotein IV deficiency False 1 0;0;0 1.116 False ENSG00000135218 ENSG00000135218 HGNC:1663 CD46 gene CD46 BabySeq Category C gene;Expert Review Red BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal Haemolytic uraemic syndrome False 1 0;0;0 1.116 False ENSG00000117335 ENSG00000117335 HGNC:6953 CD81 gene CD81 Expert Review;Expert Review Red BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal Immunodeficiency, common variable, 6, MIM# 613496 20237408 False 1 0;0;100 1.116 True ENSG00000110651 ENSG00000110651 HGNC:1701 CD96 gene CD96 BabySeq Category C gene;Expert Review Red BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal C syndrome False 1 0;0;0 1.116 False ENSG00000153283 ENSG00000153283 HGNC:16892 CDAN1 gene CDAN1 BabySeq Category A gene;Expert Review Red BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal Dyserythropoietic anaemia, congenital, type Ia, MIM#224120 False 1 0;0;100 1.116 True ENSG00000140326 ENSG00000140326 HGNC:1713 CDH1 gene CDH1 BabySeq Category B gene;BabySeq Category C gene;Expert Review Red BabyScreen+ newborn screening Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Orofacial clefts;Gastric cancer False 1 0;0;0 1.116 False ENSG00000039068 ENSG00000039068 HGNC:1748 CDK5RAP2 gene CDK5RAP2 BabySeq Category C gene;Expert Review Red BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal Microcephaly 3, primary, autosomal recessive, MIM# 604804;MONDO:0011488 False 1 0;0;100 1.116 True ENSG00000136861 ENSG00000136861 HGNC:18672 CDKL5 gene CDKL5 BabySeq Category A gene;Expert Review Red BabyScreen+ newborn screening Screening X-LINKED: hemizygous mutation in males, biallelic mutations in females Epileptic encephalopathy, early infantile, 2, MIM 300672 False 1 0;0;100 1.116 True ENSG00000008086 ENSG00000008086 HGNC:11411 CDKN2A gene CDKN2A BabySeq Category B gene;Expert Review Red BabyScreen+ newborn screening Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted {Melanoma, cutaneous malignant, 2}, MIM# 155601 False 1 0;0;100 1.116 True ENSG00000147889 ENSG00000147889 HGNC:1787 CDON gene CDON BabySeq Category C gene;Expert Review Red BabyScreen+ newborn screening Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Holoprosencephaly False 1 0;0;0 1.116 False ENSG00000064309 ENSG00000064309 HGNC:17104 CDSN gene CDSN BabySeq Category A gene;Expert Review Red BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal Peeling skin syndrome 1, MIM#270300 False 1 0;0;100 1.116 True ENSG00000204539 ENSG00000204539 HGNC:1802 CDT1 gene CDT1 BabySeq Category C gene;Expert Review Red BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal Meier-Gorlin syndrome 4, MIM# 613804;MONDO:0013431 22333897;21358632;21358631;33338304 False 1 0;0;100 1.116 True ENSG00000167513 ENSG00000167513 HGNC:24576 CEACAM16 gene CEACAM16 BabySeq Category C gene;Expert Review Red BabyScreen+ newborn screening Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Hearing loss, autosomal dominant False 1 0;0;0 1.116 False ENSG00000213892 ENSG00000213892 HGNC:31948 CENPJ gene CENPJ BabySeq Category C gene;Expert Review Red BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal Primary microcephaly False 1 0;0;0 1.116 False ENSG00000151849 ENSG00000151849 HGNC:17272 CEP152 gene CEP152 BabySeq Category A gene;Expert Review Red BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal Microcephaly 9, primary, autosomal recessive, MIM# 614852;Seckel syndrome 5, MIM# 613823 False 1 0;0;100 1.116 True ENSG00000103995 ENSG00000103995 HGNC:29298 CEP250 gene CEP250 Expert list;Expert Review Red BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal Cone-rod dystrophy and hearing loss 2 MIM#618358 PMID: 34223797, PMID: 29718797, PMID: 30459346, PMID: 28005958 False 1 0;0;100 1.116 True ENSG00000126001 ENSG00000126001 HGNC:1859 CEP290 gene CEP290 BabySeq Category A gene;Expert Review Red BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal Bardet-Biedl syndrome 14, MIM# 615991;Joubert syndrome 5 610188;Leber congenital amaurosis 10, MIM# 611755;Meckel syndrome 4, MIM# 611134;Senior-Loken syndrome 6, MIM# 610189 False 1 0;0;100 1.116 True ENSG00000198707 ENSG00000198707 HGNC:29021 CEP41 gene CEP41 BabySeq Category C gene;Expert Review Red BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal Joubert syndrome False 1 0;0;0 1.116 False ENSG00000106477 ENSG00000106477 HGNC:12370 CEP78 gene CEP78 Expert list;Expert Review Red BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal Cone-rod dystrophy and hearing loss MIM#617236 False 1 0;0;100 1.116 True ENSG00000148019 ENSG00000148019 HGNC:25740 CEP83 gene CEP83 Expert Review;Expert Review Red BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal Nephronophthisis 18, MIM# 615862;ID;MONDO:0014374;Retinal dystrophy 33938610;24882706 False 1 0;0;100 1.116 True ENSG00000173588 ENSG00000173588 HGNC:17966 CFB gene CFB BabySeq Category C gene;BeginNGS;Expert Review Red BabyScreen+ newborn screening Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted "Haemolytic uraemic syndrome;Haemolytic uremic syndrome, atypical, susceptibility to, 4}, MIM# 612924" False 1 0;0;0 1.116 False ENSG00000243649 ENSG00000243649 HGNC:1037 CFC1 gene CFC1 BabySeq Category A gene;Expert Review Red BabyScreen+ newborn screening Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Heterotaxy, visceral, 2, autosomal MIM#605376 False 1 0;0;100 1.116 True ENSG00000136698 ENSG00000136698 HGNC:18292 CFHR1 gene CFHR1 BabySeq Category C gene;Expert Review Red BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal Haemolytic uraemic syndrome False 1 0;0;0 1.116 False ENSG00000244414 ENSG00000244414 HGNC:4888 CFHR3 gene CFHR3 BabySeq Category C gene;Expert Review Red BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal Haemolytic uraemic syndrome False 1 0;0;0 1.116 False ENSG00000116785 ENSG00000116785 HGNC:16980 CFHR4 gene CFHR4 BabySeq Category C gene;Expert Review Red BabyScreen+ newborn screening Screening Unknown Hemolytic-uremic syndrome, atypical, susceptibility to False 1 0;0;0 1.116 False ENSG00000134365 ENSG00000134365 HGNC:16979 CFHR5 gene CFHR5 BabySeq Category C gene;Expert Review Red BabyScreen+ newborn screening Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Haemolytic uraemic syndrome False 1 0;0;0 1.116 False ENSG00000134389 ENSG00000134389 HGNC:24668 CFL2 gene CFL2 BabySeq Category A gene;Expert Review Red BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal Nemaline myopathy 7, autosomal recessive, MIM# 610687 False 1 0;0;100 1.116 True ENSG00000165410 ENSG00000165410 HGNC:1875 CHD2 gene CHD2 BabySeq Category A gene;Expert Review Red BabyScreen+ newborn screening Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Epileptic encephalopathy, childhood-onset (MIM # 615369) False 1 0;0;100 1.116 True ENSG00000173575 ENSG00000173575 HGNC:1917 CHD7 gene CHD7 BabySeq Category A gene;Expert Review Red BabyScreen+ newborn screening Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted CHARGE syndrome, MIM# 214800 False 1 0;0;100 1.116 True ENSG00000171316 ENSG00000171316 HGNC:20626 CHEK2 gene CHEK2 BabySeq Category C gene;Expert Review Red BabyScreen+ newborn screening Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Breast cancer, susceptibility to False 1 0;0;0 1.116 False ENSG00000183765 ENSG00000183765 HGNC:16627 CHKB gene CHKB BabySeq Category A gene;Expert Review Red BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal Muscular dystrophy, congenital, megaconial type, MIM# 602541 False 1 0;0;100 1.116 True ENSG00000100288 ENSG00000100288 HGNC:1938 CHM gene CHM BabySeq Category A gene;Expert Review Red BabyScreen+ newborn screening Screening X-LINKED: hemizygous mutation in males, biallelic mutations in females Choroideraemia MIM#303100 False 1 0;0;100 1.116 True ENSG00000188419 ENSG00000188419 HGNC:1940 CHRM2 gene CHRM2 BabySeq Category C gene;Expert Review Red BabyScreen+ newborn screening Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Cardiomyopathy, dilated False 1 0;0;0 1.116 False ENSG00000181072 ENSG00000181072 HGNC:1951 CHRNA2 gene CHRNA2 BabySeq Category C gene;Expert Review Red BabyScreen+ newborn screening Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Epilepsy False 1 0;0;0 1.116 False ENSG00000120903 ENSG00000120903 HGNC:1956 CHRNG gene CHRNG BabySeq Category A gene;Expert Review Red BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal Escobar syndrome, MIM# 265000;Multiple pterygium syndrome, lethal type, MIM# 253290 False 1 0;0;100 1.116 True ENSG00000196811 ENSG00000196811 HGNC:1967 CHST3 gene CHST3 BabySeq Category C gene;Expert Review Red BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal Larsen syndrome False 1 0;0;0 1.116 False ENSG00000122863 ENSG00000122863 HGNC:1971 CHSY1 gene CHSY1 BabySeq Category C gene;Expert Review Red BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal Temtamy preaxial brachydactyly syndrome False 1 0;0;0 1.116 False ENSG00000131873 ENSG00000131873 HGNC:17198 CISD2 gene CISD2 BabySeq Category C gene;Expert Review Red BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal Wolfram syndrome False 1 0;0;0 1.116 False ENSG00000145354 ENSG00000145354 HGNC:24212 CITED2 gene CITED2 BabySeq Category C gene;Expert Review Red BabyScreen+ newborn screening Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Congenital heart defects False 1 0;0;0 1.116 False ENSG00000164442 ENSG00000164442 HGNC:1987 CLCN1 gene CLCN1 BabySeq Category C gene;Expert Review Red BabyScreen+ newborn screening Screening BOTH monoallelic and biallelic, autosomal or pseudoautosomal Myotonia congenita, recessive, MIM# 255700;Myotonia congenita, dominant, MIM# 160800 False 1 0;0;0 1.116 False ENSG00000188037 ENSG00000188037 HGNC:2019 CLCN5 gene CLCN5 BabySeq Category A gene;Expert Review Red BabyScreen+ newborn screening Screening X-LINKED: hemizygous mutation in males, biallelic mutations in females Dent disease, MIM#300009 False 1 0;0;100 1.116 True ENSG00000171365 ENSG00000171365 HGNC:2023 CLDN1 gene CLDN1 BabySeq Category C gene;Expert Review Red BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal Ichthyosis, leukocyte vacuoles, alopecia, and sclerosing cholangitis False 1 0;0;0 1.116 False ENSG00000163347 ENSG00000163347 HGNC:2032 CLDN19 gene CLDN19 BabySeq Category A gene;Expert Review Red BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal Deafness, autosomal recessive 116 MIM#619093 False 1 0;0;100 1.116 True ENSG00000164007 ENSG00000164007 HGNC:2040 CLDN9 gene CLDN9 Expert list;Expert Review Red BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal Deafness, autosomal recessive 116 MIM#619093 PMID: 34265170 False 1 0;0;100 1.116 True ENSG00000213937 ENSG00000213937 HGNC:2051 CLMP gene CLMP BabySeq Category C gene;Expert Review Red BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal Congenital short-bowel syndrome False 1 0;0;0 1.116 False ENSG00000166250 ENSG00000166250 HGNC:24039 CLN8 gene CLN8 BabySeq Category A gene;Expert Review Red BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal Ceroid lipofuscinosis, neuronal, 8, MIM# 600143;Ceroid lipofuscinosis, neuronal, 8, Northern epilepsy variant, MIM# 610003 33242182 False 1 33;33;33 1.116 True ENSG00000182372 ENSG00000182372 HGNC:2079 CLRN1 gene CLRN1 BabySeq Category A gene;Expert Review Red BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal Usher syndrome, type 3A, MIM# 276902 False 1 0;0;100 1.116 True ENSG00000163646 ENSG00000163646 HGNC:12605 CNGB3 gene CNGB3 BabySeq Category A gene;Expert Review Red BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal Achromatopsia 3, MIM# 262300 False 1 0;0;100 1.116 True ENSG00000170289 ENSG00000170289 HGNC:2153 CNTNAP2 gene CNTNAP2 BabySeq Category C gene;Expert Review Red BabyScreen+ newborn screening Screening Unknown Autism spectrum disorder False 1 0;0;0 1.116 False ENSG00000174469 ENSG00000174469 HGNC:13830 COG4 gene COG4 BabySeq Category C gene;Expert Review Red BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal Congenital disorder of glycosylation, type IIj False 1 0;0;0 1.116 False ENSG00000103051 ENSG00000103051 HGNC:18620 COG5 gene COG5 BabySeq Category C gene;Expert Review Red BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal Congenital disorder of glycosylation, type IIi, MIM# 613612 32174980;23228021;31572517 False 1 0;0;100 1.116 True ENSG00000164597 ENSG00000164597 HGNC:14857 COG7 gene COG7 BabySeq Category C gene;Expert Review Red BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal Congenital disorder of glycosylation, type IIe False 1 0;0;0 1.116 False ENSG00000168434 ENSG00000168434 HGNC:18622 COL17A1 gene COL17A1 BabySeq Category A gene;Expert Review Red BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal Epidermolysis bullosa, junctional 4, intermediate MIM#619787 False 1 0;0;100 1.116 True ENSG00000065618 ENSG00000065618 HGNC:2194 COL4A6 gene COL4A6 Expert list;Expert Review Red BabyScreen+ newborn screening Screening X-LINKED: hemizygous mutation in males, biallelic mutations in females Deafness, X-linked 6 MIM#300914 PMID: 33840813, PMID: 23714752 False 1 50;0;50 1.116 True ENSG00000197565 ENSG00000197565 HGNC:2208 COL5A1 gene COL5A1 BabySeq Category A gene;Expert Review Red BabyScreen+ newborn screening Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Ehlers-Danlos syndrome, classic type, 1, MIM# 130000;Fibromuscular dysplasia, multifocal, MIM# 619329 False 1 0;0;100 1.116 True ENSG00000130635 ENSG00000130635 HGNC:2209 COL5A2 gene COL5A2 BabySeq Category A gene;Expert Review Red BabyScreen+ newborn screening Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Ehlers-Danlos syndrome, classic type, 2 MIM#130010 False 1 0;0;100 1.116 True ENSG00000204262 ENSG00000204262 HGNC:2210 COL6A1 gene COL6A1 BabySeq Category A gene;Expert Review Red BabyScreen+ newborn screening Screening BOTH monoallelic and biallelic, autosomal or pseudoautosomal Bethlem myopathy MIM#158810;Ullrich congenital muscular dystrophy MIM#254090 False 1 0;0;100 1.116 True ENSG00000142156 ENSG00000142156 HGNC:2211 COL6A2 gene COL6A2 BabySeq Category A gene;Expert Review Red BabyScreen+ newborn screening Screening BOTH monoallelic and biallelic, autosomal or pseudoautosomal Bethlem myopathy 1 MIM#158810;Ullrich congenital muscular dystrophy 1 MIM#254090 False 1 0;0;100 1.116 True ENSG00000142173 ENSG00000142173 HGNC:2212 COL6A3 gene COL6A3 BabySeq Category A gene;Expert Review Red BabyScreen+ newborn screening Screening BOTH monoallelic and biallelic, autosomal or pseudoautosomal Bethlem myopathy 1 MIM#158810;Dystonia 27 MIM#616411;Ullrich congenital muscular dystrophy 1 MIM#254090 False 1 0;0;100 1.116 True ENSG00000163359 ENSG00000163359 HGNC:2213 COL7A1 gene COL7A1 BabySeq Category A gene;Expert Review Red BabyScreen+ newborn screening Screening BOTH monoallelic and biallelic, autosomal or pseudoautosomal EBD inversa, MIM# 226600;EBD, Bart type MIM# 132000 EBD, localisata variant;Epidermolysis bullosa dystrophica, MIM# 131750;Epidermolysis bullosa dystrophica, 226600;Epidermolysis bullosa pruriginosa 604129;Epidermolysis bullosa, pretibial, MIM# 131850;Transient bullous of the newborn 131705 False 1 0;0;100 1.116 True ENSG00000114270 ENSG00000114270 HGNC:2214 COQ8B gene COQ8B BeginNGS;Expert Review Red BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal "Nephrotic syndrome, type 9, MIM# 615573" False 1 0;50;50 1.116 True ENSG00000123815 ENSG00000123815 HGNC:19041 COQ9 gene COQ9 BeginNGS;Expert Review Red BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal "Coenzyme Q10 deficiency, primary, 5 , MIM#614654" False 1 0;50;50 1.116 True ENSG00000088682 ENSG00000088682 HGNC:25302 COX4I2 gene COX4I2 BabySeq Category C gene;Expert Review Red BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal Exocrine pancreatic insufficiency, dyserythropoietic anemia, and calvarial hyperostosis False 1 0;0;0 1.116 False ENSG00000131055 ENSG00000131055 HGNC:16232 CPOX gene CPOX BabySeq Category C gene;BeginNGS;Expert Review Red BabyScreen+ newborn screening Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted "Coproporphyria;Coproporphyria , MIM#121300" False 1 0;0;0 1.116 False ENSG00000080819 ENSG00000080819 HGNC:2321 CPZ gene CPZ BabySeq Category C gene;Expert Review Red BabyScreen+ newborn screening Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Autism False 1 0;0;0 1.116 False ENSG00000109625 ENSG00000109625 HGNC:2333 CR2 gene CR2 BabySeq Category C gene;Expert Review Red BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal Immunodeficiency, common variable, 7, MIM# 614699 False 1 0;0;100 1.116 True ENSG00000117322 ENSG00000117322 HGNC:2336 CREBBP gene CREBBP BabySeq Category A gene;Expert Review Red BabyScreen+ newborn screening Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Rubinstein-Taybi syndrome 1, MIM# 180849;Menke-Hennekam syndrome 1, MIM# 618332 False 1 0;0;100 1.116 True ENSG00000005339 ENSG00000005339 HGNC:2348 CRELD1 gene CRELD1 BabySeq Category C gene;Expert Review Red BabyScreen+ newborn screening Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Cardiac atrioventricular septal defect False 1 0;0;0 1.116 False ENSG00000163703 ENSG00000163703 HGNC:14630 CRLF1 gene CRLF1 BabySeq Category A gene;Expert Review Red BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal Cold-induced sweating syndrome 1, MIM# 272430 False 1 0;0;100 1.116 True ENSG00000006016 ENSG00000006016 HGNC:2364 CRYM gene CRYM Expert list;Expert Review Red BabyScreen+ newborn screening Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted "Deafness, autosomal dominant 40 MIM#616357" PMID: 12471561, 32742378 False 1 0;0;100 1.116 True ENSG00000103316 ENSG00000103316 HGNC:2418 CSF1R gene CSF1R BabySeq Category C gene;Expert Review Red BabyScreen+ newborn screening Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Leukoencephalopathy, diffuse hereditary, with spheroids False 1 0;0;0 1.116 False ENSG00000182578 ENSG00000182578 HGNC:2433 CSF2RA gene CSF2RA BabySeq Category A gene;Expert Review Red BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal Surfactant metabolism dysfunction, pulmonary, 4, MIM# 300770 25425184;18955570;20622029 False 1 0;0;100 1.116 True ENSG00000198223 ENSG00000198223 HGNC:2435 CSF2RB gene CSF2RB BabySeq Category C gene;Expert Review Red BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal Pulmonary alveolar proteinosis False 1 0;0;0 1.116 False ENSG00000100368 ENSG00000100368 HGNC:2436 CSRP3 gene CSRP3 BabySeq Category B gene;BabySeq Category C gene;Expert Review Red BabyScreen+ newborn screening Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Cardiomyopathy, dilated, 1M;Cardiomyopathy, familial hypertrophic, 12 False 1 0;0;0 1.116 False ENSG00000129170 ENSG00000129170 HGNC:2472 CSTA gene CSTA BabySeq Category C gene;Expert Review Red BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal Exfoliative ichthyosis False 1 0;0;0 1.116 False ENSG00000121552 ENSG00000121552 HGNC:2481 CSTB gene CSTB BabySeq Category A gene;Expert Review Red BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal Epilepsy, progressive myoclonic 1A (Unverricht and Lundborg), MIM# 254800 False 1 0;0;100 1.116 True ENSG00000160213 ENSG00000160213 HGNC:2482 CTC1 gene CTC1 BabySeq Category A gene;Expert Review Red BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal Cerebroretinal microangiopathy with calcifications and cysts, MIM# 612199 False 1 0;0;100 1.116 True ENSG00000178971 ENSG00000178971 HGNC:26169 CTDP1 gene CTDP1 BabySeq Category C gene;Expert Review Red BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal Congenital cataracts - facial dysmorphism - neuropathy False 1 0;0;0 1.116 False ENSG00000060069 ENSG00000060069 HGNC:2498 CTF1 gene CTF1 BabySeq Category C gene;Expert Review Red BabyScreen+ newborn screening Screening Unknown Cardiomyopathy, dilated False 1 0;0;0 1.116 False ENSG00000150281 ENSG00000150281 HGNC:2499 CTR9 gene CTR9 Expert list;Expert Review Red BabyScreen+ newborn screening Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Wilms tumour predisposition PMID: 32412586 False 1 0;0;100 1.116 True ENSG00000198730 ENSG00000198730 HGNC:16850 CTSD gene CTSD BabySeq Category A gene;Expert Review Red BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal Ceroid lipofuscinosis, neuronal, 10, MIM# 610127 False 1 0;0;100 1.116 True ENSG00000117984 ENSG00000117984 HGNC:2529 CTSK gene CTSK BabySeq Category A gene;Expert Review Red BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal Pycnodysostosis - MIM#265800 False 1 0;0;100 1.116 True ENSG00000143387 ENSG00000143387 HGNC:2536 CUL7 gene CUL7 BabySeq Category A gene;Expert Review Red BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal 3-M syndrome 1, MIM# 273750 False 1 0;0;100 1.116 True ENSG00000044090 ENSG00000044090 HGNC:21024 CYCS gene CYCS BabySeq Category C gene;Expert Review Red BabyScreen+ newborn screening Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Thrombocytopenia 4 False 1 0;0;0 1.116 False ENSG00000172115 ENSG00000172115 HGNC:19986 CYP4F22 gene CYP4F22 BabySeq Category A gene;Expert Review Red BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal Ichthyosis, congenital, autosomal recessive 5, MIM# 604777 False 1 0;0;100 1.116 True ENSG00000171954 ENSG00000171954 HGNC:26820 CYP7A1 gene CYP7A1 BabySeq Category C gene;Expert Review Red BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal Hypercholesterolemia due to cholesterol 7alpha-hydroxylase deficiency False 1 0;0;0 1.116 False ENSG00000167910 ENSG00000167910 HGNC:2651 D2HGDH gene D2HGDH BabySeq Category A gene;Expert Review Red BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal D-2-hydroxyglutaric aciduria MIM#600721 False 1 0;0;100 1.116 True ENSG00000180902 ENSG00000180902 HGNC:28358 DAG1 gene DAG1 BabySeq Category C gene;Expert Review Red BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 9 False 1 0;0;0 1.116 False ENSG00000173402 ENSG00000173402 HGNC:2666 DAPK3 gene DAPK3 BabySeq Category C gene;Expert Review Red BabyScreen+ newborn screening Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Congenital heart disease False 1 0;0;0 1.116 False ENSG00000167657 ENSG00000167657 HGNC:2676 DBH gene DBH BabySeq Category C gene;Expert Review Red BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal Dopamine beta-hydroxylase deficiency False 1 0;0;0 1.116 False ENSG00000123454 ENSG00000123454 HGNC:2689 DCTN1 gene DCTN1 BabySeq Category C gene;Expert Review Red BabyScreen+ newborn screening Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Amyotrophic lateral sclerosis False 1 0;0;0 1.116 False ENSG00000204843 ENSG00000204843 HGNC:2711 DCX gene DCX BabySeq Category A gene;BabySeq Category C gene;Expert Review Red BabyScreen+ newborn screening Screening X-LINKED: hemizygous mutation in males, biallelic mutations in females Lissencephaly, X-linked, MIM# 300067;Subcortical laminal heterotopia, X-linked 300067 False 1 0;0;100 1.116 True ENSG00000077279 ENSG00000077279 HGNC:2714 DDB2 gene DDB2 BabySeq Category A gene;Expert Review Red BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal Xeroderma pigmentosum, group E, DDB-negative subtype, MIM# 278740 32530099;32228487 False 1 0;0;100 1.116 True ENSG00000134574 ENSG00000134574 HGNC:2718 DDHD1 gene DDHD1 BabySeq Category C gene;Expert Review Red BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal Spastic paraplegia False 1 0;0;0 1.116 False ENSG00000100523 ENSG00000100523 HGNC:19714 DDOST gene DDOST BabySeq Category C gene;Expert Review Red BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal Congenital disorder of glycosylation, type Ir False 1 0;0;0 1.116 False ENSG00000244038 ENSG00000244038 HGNC:2728 DDR2 gene DDR2 BabySeq Category C gene;Expert Review Red BabyScreen+ newborn screening Screening BOTH monoallelic and biallelic, autosomal or pseudoautosomal Spondylometaepiphyseal dysplasia, short limb-hand type, MIM#271665;Warburg-Cinotti syndrome, MIM# 618175 False 1 0;0;100 1.116 True ENSG00000162733 ENSG00000162733 HGNC:2731 DECR1 gene DECR1 BabySeq Category C gene;Expert Review Red BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal 2,4-Dienoyl-CoA reductase deficiency False 1 0;0;0 1.116 False ENSG00000104325 ENSG00000104325 HGNC:2753 DFNA5 gene DFNA5 BabySeq Category A gene;Expert Review Red BabyScreen+ newborn screening Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Deafness, autosomal dominant 5, MIM# 600994 False 1 0;0;100 1.116 True ENSG00000105928 ENSG00000105928 HGNC:2810 DGKE gene DGKE BabySeq Category C gene;Expert Review Red BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal Haemolytic uraemic syndrome, atypical False 1 0;0;0 1.116 False ENSG00000153933 ENSG00000153933 HGNC:2852 DGUOK gene DGUOK BabySeq Category A gene;Expert Review Red BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal Mitochondrial DNA depletion syndrome 3 (hepatocerebral type), MIM# 251880 False 1 0;50;50 1.116 True ENSG00000114956 ENSG00000114956 HGNC:2858 DHCR24 gene DHCR24 BabySeq Category C gene;Expert Review Red BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal Desmosterolosis False 1 0;0;0 1.116 False ENSG00000116133 ENSG00000116133 HGNC:2859 DIABLO gene DIABLO BabySeq Category C gene;Expert Review Red BabyScreen+ newborn screening Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Deafness, autosomal dominant False 1 0;0;0 1.116 False ENSG00000184047 ENSG00000184047 HGNC:21528 DIAPH1 gene DIAPH1 BabySeq Category C gene;Expert Review Red BabyScreen+ newborn screening Screening BOTH monoallelic and biallelic, autosomal or pseudoautosomal Seizures, cortical blindness, microcephaly syndrome, MIM# 616632;Deafness, autosomal dominant 1, with or without thrombocytopenia, MIM# 124900 False 1 0;0;100 1.116 True ENSG00000131504 ENSG00000131504 HGNC:2876 DKC1 gene DKC1 BabySeq Category B gene;BeginNGS;Expert Review Red BabyScreen+ newborn screening Screening X-LINKED: hemizygous mutation in males, biallelic mutations in females "Dyskeratosis congenita, X-linked, MIM# 305000" False 1 0;0;100 1.116 True ENSG00000130826 ENSG00000130826 HGNC:2890 DLC1 gene DLC1 BabySeq Category C gene;Expert Review Red BabyScreen+ newborn screening Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Congenital heart disease False 1 0;0;0 1.116 False ENSG00000164741 ENSG00000164741 HGNC:2897 DLD gene DLD BabySeq Category A gene;BeginNGS;Expert Review Red BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal Maple syrup urine disease, type III, MIM#246900 False 1 0;0;100 1.116 True ENSG00000091140 ENSG00000091140 HGNC:2898 DLL3 gene DLL3 BabySeq Category A gene;Expert Review Red BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal Spondylocostal dysostosis 1, autosomal recessive, MIM# 277300 False 1 0;0;100 1.116 True ENSG00000090932 ENSG00000090932 HGNC:2909 DMPK gene DMPK BabySeq Category A gene;Expert Review Red BabyScreen+ newborn screening Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Myotonic dystrophy 1, MIM# 160900 False 1 0;0;100 1.116 True ENSG00000104936 ENSG00000104936 HGNC:2933 DMXL2 gene DMXL2 Expert list;Expert Review Red BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal Developmental and epileptic encephalopathy 81, MIM#618663 False 1 0;0;100 1.116 True ENSG00000104093 ENSG00000104093 HGNC:2938 DNAAF1 gene DNAAF1 BabySeq Category A gene;Expert Review Red BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal Ciliary dyskinesia, primary, 13, MIM# 613193 False 1 0;0;100 1.116 True ENSG00000154099 ENSG00000154099 HGNC:30539 DNAAF2 gene DNAAF2 BabySeq Category C gene;Expert Review Red BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal Primary ciliary dyskinesia False 1 0;0;0 1.116 False ENSG00000165506 ENSG00000165506 HGNC:20188 DNAAF3 gene DNAAF3 BabySeq Category C gene;Expert Review Red BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal Primary ciliary dyskinesia False 1 0;0;0 1.116 False ENSG00000167646 ENSG00000167646 HGNC:30492 DNAAF5 gene DNAAF5 BabySeq Category C gene;Expert Review Red BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal Primary ciliary dyskinesia False 1 0;0;0 1.116 False ENSG00000164818 ENSG00000164818 HGNC:26013 DNAH11 gene DNAH11 BabySeq Category A gene;Expert Review Red BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal Ciliary dyskinesia, primary, 7, with or without situs inversus, MIM#611884 False 1 0;0;100 1.116 True ENSG00000105877 ENSG00000105877 HGNC:2942 DNAH5 gene DNAH5 BabySeq Category A gene;Expert Review Red BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal Ciliary dyskinesia, primary, 3, with or without situs inversus, MIM# 608644 False 1 0;0;100 1.116 True ENSG00000039139 ENSG00000039139 HGNC:2950 DNAI1 gene DNAI1 BabySeq Category A gene;Expert Review Red BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal Ciliary dyskinesia, primary, 1, with or without situs inversus, MIM# 244400 False 1 0;0;100 1.116 True ENSG00000122735 ENSG00000122735 HGNC:2954 DNAI2 gene DNAI2 BabySeq Category C gene;Expert Review Red BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal Primary ciliary dyskinesia False 1 0;0;0 1.116 False ENSG00000171595 ENSG00000171595 HGNC:18744 DNAJB6 gene DNAJB6 BabySeq Category A gene;Expert Review Red BabyScreen+ newborn screening Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Muscular dystrophy, limb-girdle, autosomal dominant 1 MIM#603511 False 1 0;0;100 1.116 True ENSG00000105993 ENSG00000105993 HGNC:14888 DNAJC19 gene DNAJC19 BabySeq Category C gene;Expert Review Red BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal 3-methylglutaconic aciduria, type V False 1 0;0;0 1.116 False ENSG00000205981 ENSG00000205981 HGNC:30528 DNAJC5 gene DNAJC5 BabySeq Category C gene;Expert Review Red BabyScreen+ newborn screening Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Neuronal ceroid lipofuscinosis, adult-onset False 1 0;0;0 1.116 False ENSG00000101152 ENSG00000101152 HGNC:16235 DNAL1 gene DNAL1 BabySeq Category C gene;Expert Review Red BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal Primary ciliary dyskinesia False 1 0;0;0 1.116 False ENSG00000119661 ENSG00000119661 HGNC:23247 DNM2 gene DNM2 BabySeq Category A gene;Expert Review Red BabyScreen+ newborn screening Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Charcot-Marie-Tooth disease, axonal type 2M, MIM# 606482 Charcot-Marie-Tooth disease, dominant intermediate B, MIM# 606482 False 1 0;0;100 1.116 True ENSG00000079805 ENSG00000079805 HGNC:2974 DOLK gene DOLK BabySeq Category C gene;Expert Review Red BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal Congenital disorder of glycosylation, type Im, MIM# 610768;DK1-CDG, MONDO:0012556 30653653;22242004;23890587;17273964;28816422;24144945 False 1 0;0;100 1.116 True ENSG00000175283 ENSG00000175283 HGNC:23406 DPM1 gene DPM1 BabySeq Category C gene;Expert Review Red BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal Congenital disorder of glycosylation, type Ie False 1 0;0;0 1.116 False ENSG00000000419 ENSG00000000419 HGNC:3005 DPP6 gene DPP6 BabySeq Category C gene;Expert Review Red BabyScreen+ newborn screening Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Ventricular fibrillation, paroxysmal familial, 2 False 1 0;0;0 1.116 False ENSG00000130226 ENSG00000130226 HGNC:3010 DPYD gene DPYD BabySeq Category C gene;Expert Review Red BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal Dihydropyrimidine dehydrogenase deficiency False 1 0;0;0 1.116 False ENSG00000188641 ENSG00000188641 HGNC:3012 DTHD1 gene DTHD1 BabySeq Category C gene;Expert Review Red BabyScreen+ newborn screening Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Leber congenital amaurosis with myopathy False 1 0;0;0 1.116 False ENSG00000197057 ENSG00000197057 HGNC:37261 DTNA gene DTNA BabySeq Category C gene;Expert Review Red BabyScreen+ newborn screening Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Left ventricular noncompaction 1 False 1 0;0;0 1.116 False ENSG00000134769 ENSG00000134769 HGNC:3057 DTNBP1 gene DTNBP1 BabySeq Category C gene;Expert Review Red BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal Hermansky-Pudlak syndrome 7 False 1 0;0;0 1.116 False ENSG00000047579 ENSG00000047579 HGNC:17328 DYSF gene DYSF BabySeq Category A gene;Expert Review Red BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal Miyoshi muscular dystrophy 1 254130;Muscular dystrophy, limb-girdle, autosomal recessive 2 253601;Myopathy, distal, with anterior tibial onset 606768 False 1 0;0;100 1.116 True ENSG00000135636 ENSG00000135636 HGNC:3097 ECE1 gene ECE1 BabySeq Category C gene;Expert Review Red BabyScreen+ newborn screening Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Hirschsprung disease False 1 0;0;0 1.116 False ENSG00000117298 ENSG00000117298 HGNC:3146 EDA gene EDA BabySeq Category A gene;Expert Review Red BabyScreen+ newborn screening Screening X-LINKED: hemizygous mutation in males, biallelic mutations in females Ectodermal dysplasia 1, hypohidrotic, X-linked MIM#305100;Tooth agenesis, selective, X-linked 1 MIM#313500 False 1 0;0;100 1.116 True ENSG00000158813 ENSG00000158813 HGNC:3157 EDAR gene EDAR BabySeq Category A gene;Expert Review Red BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal autosomal dominant hypohidrotic ectodermal dysplasia MONDO:0015884;autosomal recessive hypohidrotic ectodermal dysplasia MONDO:0016619 False 1 0;0;100 1.116 True ENSG00000135960 ENSG00000135960 HGNC:2895 EDARADD gene EDARADD BabySeq Category A gene;Expert Review Red BabyScreen+ newborn screening Screening BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal autosomal dominant hypohidrotic ectodermal dysplasia MONDO:0015884;autosomal recessive hypohidrotic ectodermal dysplasia MONDO:0016619 False 1 0;0;100 1.116 True ENSG00000186197 ENSG00000186197 HGNC:14341 EFEMP2 gene EFEMP2 BabySeq Category C gene;Expert Review Red BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal Cutis laxa, autosomal recessive, type IB False 1 0;0;0 1.116 False ENSG00000172638 ENSG00000172638 HGNC:3219 EFHC1 gene EFHC1 BabySeq Category A gene;Expert Review Red BabyScreen+ newborn screening Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted {Myoclonic epilepsy, juvenile, susceptibility to, 1}, 254770;{Epilepsy, juvenile absence, susceptibility to, 1}, 607631 33181902;28370826;33969125;29750216;31056551 False 1 0;0;0 1.116 False ENSG00000096093 ENSG00000096093 HGNC:16406 EFTUD2 gene EFTUD2 BabySeq Category A gene;Expert Review Red BabyScreen+ newborn screening Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Mandibulofacial dysostosis, Guion-Almeida type, MIM# 610536 False 1 0;0;100 1.116 True ENSG00000108883 ENSG00000108883 HGNC:30858 EGR2 gene EGR2 BabySeq Category A gene;Expert Review Red BabyScreen+ newborn screening Screening BOTH monoallelic and biallelic, autosomal or pseudoautosomal Charcot-Marie-Tooth disease, type 1D 607678;Dejerine-Sottas disease 145900;Hypomyelinating neuropathy, congenital, 1, MIM# 605253 False 1 0;0;100 1.116 True ENSG00000122877 ENSG00000122877 HGNC:3239 EIF2B1 gene EIF2B1 BabySeq Category C gene;Expert Review Red BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal Leukoencephalopathy with vanishing white matter False 1 0;0;0 1.116 False ENSG00000111361 ENSG00000111361 HGNC:3257 ELN gene ELN BabySeq Category A gene;Expert Review Red BabyScreen+ newborn screening Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted cutis laxa, autosomal dominant 1 MONDO:0007411;supravalvular aortic stenosis MONDO:0008504 False 1 0;0;100 1.116 True ENSG00000049540 ENSG00000049540 HGNC:3327 ELP1 gene ELP1 BabySeq Category A gene;Expert Review Red BabyScreen+ newborn screening Screening BOTH monoallelic and biallelic, autosomal or pseudoautosomal Dysautonomia, familial MIM#223900;paediatric medulloblastoma False 1 0;0;100 1.116 True ENSG00000070061 ENSG00000070061 HGNC:5959 EMD gene EMD BabySeq Category A gene;Expert Review Red BabyScreen+ newborn screening Screening X-LINKED: hemizygous mutation in males, biallelic mutations in females Emery-Dreifuss muscular dystrophy 1, X-linked MIM#310300 False 1 0;0;100 1.116 True ENSG00000102119 ENSG00000102119 HGNC:3331 EPB42 gene EPB42 BabySeq Category C gene;Expert Review Red BabyScreen+ newborn screening Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Spherocytosis False 1 0;0;0 1.116 False ENSG00000166947 ENSG00000166947 HGNC:3381 EPCAM gene EPCAM BabySeq Category C gene;Expert Review Red BabyScreen+ newborn screening Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Lynch syndrome False 1 0;0;0 1.116 False ENSG00000119888 ENSG00000119888 HGNC:11529 EPHX1 gene EPHX1 BabySeq Category C gene;Expert Review Red BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal Hypercholanemia, familial False 1 0;0;0 1.116 False ENSG00000143819 ENSG00000143819 HGNC:3401 EPM2A gene EPM2A BabySeq Category A gene;Expert Review Red BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal Lafora disease MONDO:0009697 False 1 0;0;100 1.116 True ENSG00000112425 ENSG00000112425 HGNC:3413 EPS8L2 gene EPS8L2 Expert list;Expert Review Red BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal Deafness, MIM#617637 False 1 0;0;100 1.116 True ENSG00000177106 ENSG00000177106 HGNC:21296 ERBB3 gene ERBB3 BabySeq Category C gene;Expert Review Red BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal Lethal congenital contractural syndrome 2 False 1 0;0;0 1.116 False ENSG00000065361 ENSG00000065361 HGNC:3431 ERCC1 gene ERCC1 BabySeq Category C gene;Expert Review Red BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal Xeroderma pigmentosum False 1 0;0;0 1.116 False ENSG00000012061 ENSG00000012061 HGNC:3433 ERCC2 gene ERCC2 BabySeq Category A gene;Expert Review Red BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal Xeroderma pigmentosum, group D, MIM# 278730 False 1 0;0;100 1.116 True ENSG00000104884 ENSG00000104884 HGNC:3434 ERCC3 gene ERCC3 BabySeq Category C gene;Expert Review Red BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal Xeroderma pigmentosum False 1 0;0;0 1.116 False ENSG00000163161 ENSG00000163161 HGNC:3435 ERCC5 gene ERCC5 BabySeq Category A gene;Expert Review Red BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal Cerebrooculofacioskeletal syndrome 3, MIM# 616570 MONDO:0014696;Xeroderma pigmentosum, group G/Cockayne syndrome, MIM# 278780 MONDO:0010216 False 1 0;0;100 1.116 True ENSG00000134899 ENSG00000134899 HGNC:3437 ERCC6 gene ERCC6 BabySeq Category A gene;Expert Review Red BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal Cerebrooculofacioskeletal syndrome 1, MIM# 214150 MONDO:0008955;Cockayne syndrome, type B, MIM# 133540 MONDO:0019570;De Sanctis-Cacchione syndrome, MIM# 278800 MONDO:0010217;UV-sensitive syndrome 1, MIM# 600630 MONDO:0010909 False 1 0;0;100 1.116 True ENSG00000225830 ENSG00000225830 HGNC:3438 ERCC8 gene ERCC8 BabySeq Category A gene;Expert Review Red BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal Cockayne syndrome, type A, MIM# 216400;MONDO:0019569 False 1 0;0;100 1.116 True ENSG00000049167 ENSG00000049167 HGNC:3439 ESCO2 gene ESCO2 BabySeq Category A gene;Expert Review Red BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal Juberg-Hayward syndrome, MIM# 216100;Roberts-SC phocomelia syndrome, MIM#268300 False 1 0;0;100 1.116 True ENSG00000171320 ENSG00000171320 HGNC:27230 EVC gene EVC BabySeq Category A gene;Expert Review Red BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal Ellis-van Creveld syndrome, MIM# 225500 False 1 0;0;100 1.116 True ENSG00000072840 ENSG00000072840 HGNC:3497 EVC2 gene EVC2 BabySeq Category A gene;Expert Review Red BabyScreen+ newborn screening Screening BOTH monoallelic and biallelic, autosomal or pseudoautosomal Ellis-van Creveld syndrome, MIM# 225500;Weyers acrofacial dysostosis, MIM# 193530 False 1 0;0;100 1.116 True ENSG00000173040 ENSG00000173040 HGNC:19747 EXT1 gene EXT1 BabySeq Category A gene;Expert Review Red BabyScreen+ newborn screening Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Exostoses, multiple, type 1, MIM# 133700 False 1 0;0;100 1.116 True ENSG00000182197 ENSG00000182197 HGNC:3512 EXT2 gene EXT2 BabySeq Category A gene;Expert Review Red BabyScreen+ newborn screening Screening BOTH monoallelic and biallelic, autosomal or pseudoautosomal Seizures, scoliosis, and macrocephaly syndrome, MIM#616682 False 1 0;0;100 1.116 True ENSG00000151348 ENSG00000151348 HGNC:3513 EYA1 gene EYA1 BabySeq Category A gene;Expert Review Red BabyScreen+ newborn screening Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Anterior segment anomalies with or without cataract MIM#602588;Branchiootic syndrome 1 MIM#602588;Branchiootorenal syndrome 1, with or without cataracts MIM#113650 False 1 0;0;100 1.116 True ENSG00000104313 ENSG00000104313 HGNC:3519 EYA4 gene EYA4 BabySeq Category A gene;Expert Review Red BabyScreen+ newborn screening Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Deafness, autosomal dominant 10, MIM# 601316 False 1 0;0;100 1.116 True ENSG00000112319 ENSG00000112319 HGNC:3522 EZH2 gene EZH2 BabySeq Category A gene;Expert Review Red BabyScreen+ newborn screening Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Weaver syndrome MIM#277590 False 1 0;0;100 1.116 True ENSG00000106462 ENSG00000106462 HGNC:3527 F11 gene F11 BabySeq Category A gene;Expert Review Red BabyScreen+ newborn screening Screening BOTH monoallelic and biallelic, autosomal or pseudoautosomal Factor XI deficiency, autosomal dominant 612416;Factor XI deficiency, autosomal recessive, MIM#612416 False 1 0;0;100 1.116 True ENSG00000088926 ENSG00000088926 HGNC:3529 F2 gene F2 BabySeq Category A gene;BeginNGS;Expert Review Red BabyScreen+ newborn screening Screening BOTH monoallelic and biallelic, autosomal or pseudoautosomal Dysprothrombinemia MIM#613679;Hypoprothrombinemia MIM#613679;Thrombophilia due to thrombin defect MIM#188050 False 1 0;0;100 1.116 True ENSG00000180210 ENSG00000180210 HGNC:3535 F5 gene F5 BabySeq Category C gene;Expert Review Red BabyScreen+ newborn screening Screening BOTH monoallelic and biallelic, autosomal or pseudoautosomal Factor V deficiency, MIM# 227400 MONDO:0009210;Thrombophilia due to activated protein C resistance, MIM# 188055 MONDO:0008560;{Thrombophilia, susceptibility to, due to factor V Leiden}, MIM# 188055 False 1 0;0;100 1.116 True ENSG00000198734 ENSG00000198734 HGNC:3542 FAAH2 gene FAAH2 BabySeq Category C gene;Expert Review Red BabyScreen+ newborn screening Screening X-LINKED: hemizygous mutation in males, biallelic mutations in females Autism spectrum disorder False 1 0;0;0 1.116 False ENSG00000165591 ENSG00000165591 HGNC:26440 FAM111B gene FAM111B BabySeq Category C gene;Expert Review Red BabyScreen+ newborn screening Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Hereditary fibrosing poikiloderma with tendon contracture, myopathy, and pulmonary fibrosis False 1 0;0;0 1.116 False ENSG00000189057 ENSG00000189057 HGNC:24200 FAM126A gene FAM126A BabySeq Category A gene;Expert Review Red BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal Hypomyelinating leukodystrophy 5 MONDO:0012514 False 1 0;0;100 1.116 True ENSG00000122591 ENSG00000122591 HGNC:24587 FAM161A gene FAM161A BabySeq Category A gene;Expert Review Red BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal Retinitis pigmentosa 28, 606068 False 1 0;0;100 1.116 True ENSG00000170264 ENSG00000170264 HGNC:25808 FAM20C gene FAM20C BabySeq Category A gene;Expert Review Red BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal Raine syndrome, MIM# 259775 False 1 0;0;100 1.116 True ENSG00000177706 ENSG00000177706 HGNC:22140 FAM58A gene FAM58A BabySeq Category A gene;Expert Review Red BabyScreen+ newborn screening Screening X-LINKED: hemizygous mutation in males, biallelic mutations in females syndactyly-telecanthus-anogenital and renal malformations syndrome MONDO:0010408 False 1 0;0;100 1.116 True - ENSG00000262919 HGNC:28434 FANCE gene FANCE BabySeq Category C gene;BeginNGS;Expert Review Red BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal Fanconi anaemia;Fanconi anaemia, MIM#600901 False 1 0;0;0 1.116 False ENSG00000112039 ENSG00000112039 HGNC:3586 FANCF gene FANCF BabySeq Category C gene;BeginNGS;Expert Review Red BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal Fanconi anaemia, MIM#603467;Fanconi anaemia False 1 0;0;0 1.116 False ENSG00000183161 ENSG00000183161 HGNC:3587 FANCL gene FANCL BabySeq Category C gene;BeginNGS;Expert Review Red BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal Fanconi anaemia;Fanconi anaemia, MIM#614083 False 1 0;0;0 1.116 False ENSG00000115392 ENSG00000115392 HGNC:20748 FANCM gene FANCM BabySeq Category C gene;Expert Review Red BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal Fanconi anaemia False 1 0;0;0 1.116 False ENSG00000187790 ENSG00000187790 HGNC:23168 FAS gene FAS BeginNGS;Expert Review Red BabyScreen+ newborn screening Screening BOTH monoallelic and biallelic, autosomal or pseudoautosomal "Autoimmune lymphoproliferative syndrome, type IA, MIM# 601859" False 1 0;0;100 1.116 True ENSG00000026103 ENSG00000026103 HGNC:11920 FBLN5 gene FBLN5 BabySeq Category A gene;BabySeq Category C gene;Expert Review Red BabyScreen+ newborn screening Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Age-related macular degeneration;Cutis laxa False 1 0;0;0 1.116 False ENSG00000140092 ENSG00000140092 HGNC:3602 FBN2 gene FBN2 BabySeq Category A gene;Expert Review Red BabyScreen+ newborn screening Screening BOTH monoallelic and biallelic, autosomal or pseudoautosomal Contractural arachnodactyly, congenital MIM#121050 33571691 False 1 0;0;100 1.116 True ENSG00000138829 ENSG00000138829 HGNC:3604 FGD1 gene FGD1 BabySeq Category A gene;Expert Review Red BabyScreen+ newborn screening Screening X-LINKED: hemizygous mutation in males, biallelic mutations in females Aarskog-Scott syndrome, MIM # 305400;Mental retardation, X-linked syndromic 16, MIM# 305400 False 1 0;0;100 1.116 True ENSG00000102302 ENSG00000102302 HGNC:3663 FGD4 gene FGD4 BabySeq Category A gene;Expert Review Red BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal Charcot Marie Tooth disease, type 4H, MIM#609311 False 1 0;0;100 1.116 True ENSG00000139132 ENSG00000139132 HGNC:19125 FGFR1 gene FGFR1 BabySeq Category A gene;Expert Review Red BabyScreen+ newborn screening Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Encephalocraniocutaneous lipomatosis, somatic mosaic 613001;Hartsfield syndrome 615465;Hypogonadotropic hypogonadism 2 with or without anosmia 147950;Jackson-Weiss syndrome 123150;Osteoglophonic dysplasia 166250;Pfeiffer syndrome 101600;Trigonocephaly 1 190440 False 1 0;0;100 1.116 True ENSG00000077782 ENSG00000077782 HGNC:3688 FGFR2 gene FGFR2 BabySeq Category A gene;Expert Review Red BabyScreen+ newborn screening Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis,MIM# 207410;Apert syndrome, MIM# 101200;Beare-Stevenson cutis gyrata syndrome, MIM# 123790;Bent bone dysplasia syndrome, MIM# 614592;Craniofacial-skeletal-dermatologic dysplasia, MIM# 101600;Crouzon syndrome , MIM#123500;Jackson-Weiss syndrome,MIM# 123150;LADD syndrome, MIM# 149730;Pfeiffer syndrome,MIM# 101600;Saethre-Chotzen syndrome 101400 False 1 0;0;100 1.116 True ENSG00000066468 ENSG00000066468 HGNC:3689 FHL1 gene FHL1 BabySeq Category A gene;BabySeq Category C gene;Expert Review Red BabyScreen+ newborn screening Screening X-LINKED: hemizygous mutation in males, biallelic mutations in females Myofibrillar myopathy;Emery-Dreifuss muscular dystrophy False 1 0;0;0 1.116 False ENSG00000022267 ENSG00000022267 HGNC:3702 FHL2 gene FHL2 BabySeq Category C gene;Expert Review Red BabyScreen+ newborn screening Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Cardiomyopathy, hypertrophic False 1 0;0;0 1.116 False ENSG00000115641 ENSG00000115641 HGNC:3703 FKBPL gene FKBPL BabySeq Category C gene;Expert Review Red BabyScreen+ newborn screening Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Infertility False 1 0;0;0 1.116 False ENSG00000204315 ENSG00000204315 HGNC:13949 FKRP gene FKRP BabySeq Category A gene;Expert Review Red BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal Muscular dystrophy-dystroglycanopathy MONDO:0018276 False 1 0;0;100 1.116 True ENSG00000181027 ENSG00000181027 HGNC:17997 FKTN gene FKTN BabySeq Category A gene;Expert Review Red BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal Muscular dystrophy-dystroglycanopathy MONDO:0018276 False 1 0;0;100 1.116 True ENSG00000106692 ENSG00000106692 HGNC:3622 FLCN gene FLCN BabySeq Category A gene;Expert Review Red BabyScreen+ newborn screening Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Birt-Hogg-Dube syndrome, MIM# 135150 False 1 0;0;100 1.116 True ENSG00000154803 ENSG00000154803 HGNC:27310 FLG gene FLG BabySeq Category C gene;Expert Review Red BabyScreen+ newborn screening Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Ichthyosis vulgaris False 1 0;0;0 1.116 False ENSG00000143631 ENSG00000143631 HGNC:3748 FLNA gene FLNA BabySeq Category A gene;Expert Review Red BabyScreen+ newborn screening Screening X-LINKED: hemizygous mutation in males, biallelic mutations in females FLNA-related disorders;Frontometaphyseal dysplasia 305620;Otopalatodigital syndrome, type II -304120;Osteodysplasty Melnick Needles 309350;Melnick Needles syndrome 309350;Otopalatodigital syndrome, type II 304120;Frontometaphyseal dysplasia 305620;Terminal osseous dysplasia 300244;Otopalatodigital syndrome, type I -311300 False 1 0;0;100 1.116 True ENSG00000196924 ENSG00000196924 HGNC:3754 FLNC gene FLNC BabySeq Category C gene;Expert Review Red BabyScreen+ newborn screening Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Myofibrillar myopathy False 1 0;0;0 1.116 False ENSG00000128591 ENSG00000128591 HGNC:3756 FMO3 gene FMO3 BabySeq Category C gene;Expert Review Red BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal Trimethylaminuria False 1 0;0;0 1.116 False ENSG00000007933 ENSG00000007933 HGNC:3771 FOXC1 gene FOXC1 BabySeq Category A gene;Expert Review Red BabyScreen+ newborn screening Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Axenfeld-Rieger syndrome, type 3, MIM# 602482 False 1 0;0;100 1.116 True ENSG00000054598 ENSG00000054598 HGNC:3800 FOXC2 gene FOXC2 BabySeq Category A gene;Expert Review Red BabyScreen+ newborn screening Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Lymphoedema-distichiasis syndrome, MIM# 153400 False 1 0;0;100 1.116 True ENSG00000176692 ENSG00000176692 HGNC:3801 FOXF1 gene FOXF1 BabySeq Category A gene;Expert Review Red BabyScreen+ newborn screening Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Alveolar capillary dysplasia with misalignment of pulmonary veins, MIM# 265380 False 1 0;0;100 1.116 True ENSG00000103241 ENSG00000103241 HGNC:3809 FOXF2 gene FOXF2 BabySeq Category C gene;Expert Review Red BabyScreen+ newborn screening Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Disorders of sex development with cleft palate False 1 0;0;0 1.116 False ENSG00000137273 ENSG00000137273 HGNC:3810 FOXH1 gene FOXH1 BabySeq Category C gene;Expert Review Red BabyScreen+ newborn screening Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Congenital heart defects False 1 0;0;0 1.116 False ENSG00000160973 ENSG00000160973 HGNC:3814 FOXI1 gene FOXI1 Expert list;Expert Review Red BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal autosomal recessive distal renal tubular acidosis MONDO:0018440 False 1 0;0;100 1.116 True ENSG00000168269 ENSG00000168269 HGNC:3815 FRAS1 gene FRAS1 BabySeq Category A gene;Expert Review Red BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal Fraser syndrome 1, MIM#219000 False 1 0;0;100 1.116 True ENSG00000138759 ENSG00000138759 HGNC:19185 FREM1 gene FREM1 BabySeq Category C gene;Expert Review Red BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal Manitoba oculotrichoanal syndrome False 1 0;0;0 1.116 False ENSG00000164946 ENSG00000164946 HGNC:23399 FREM2 gene FREM2 BabySeq Category C gene;Expert Review Red BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal Fraser syndrome False 1 0;0;0 1.116 False ENSG00000150893 ENSG00000150893 HGNC:25396 FSCN2 gene FSCN2 BabySeq Category C gene;Expert Review Red BabyScreen+ newborn screening Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Retinitis pigmentosa False 1 0;0;0 1.116 False ENSG00000186765 ENSG00000186765 HGNC:3960 FTCD gene FTCD BabySeq Category C gene;Expert Review Red BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal Glutamate formiminotransferase deficiency False 1 0;0;0 1.116 False ENSG00000160282 ENSG00000160282 HGNC:3974 FTL gene FTL BabySeq Category A gene;Expert Review Red BabyScreen+ newborn screening Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Neurodegeneration with brain iron accumulation 3, MIM# 606159 False 1 0;0;100 1.116 True ENSG00000087086 ENSG00000087086 HGNC:3999 FXN gene FXN BabySeq Category A gene;Expert Review Red BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal Friedreich ataxia MONDO:0100339 False 1 0;0;100 1.116 True ENSG00000165060 ENSG00000165060 HGNC:3951 GABRA1 gene GABRA1 BabySeq Category C gene;Expert Review Red BabyScreen+ newborn screening Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Epilepsy, idiopathic generalised False 1 0;0;0 1.116 False ENSG00000022355 ENSG00000022355 HGNC:4075 GABRG2 gene GABRG2 BabySeq Category C gene;Expert Review Red BabyScreen+ newborn screening Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Epileptic encephalopathy, early infantile, 74 MIM# 618396;Epilepsy, generalized, with febrile seizures plus, type 3 MIM# 607681;Febrile seizures, familial, 8 MIM# 607681 27864268 False 1 0;0;100 1.116 True ENSG00000113327 ENSG00000113327 HGNC:4087 GAN gene GAN BabySeq Category A gene;Expert Review Red BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal Giant axonal neuropathy-1, MIM#256850 False 1 50;0;50 1.116 True ENSG00000261609 ENSG00000261609 HGNC:4137 GATA1 gene GATA1 BabySeq Category A gene;BabySeq Category C gene;BeginNGS;Expert Review Red BabyScreen+ newborn screening Screening X-LINKED: hemizygous mutation in males, biallelic mutations in females "Blackfan-Diamond anaemia, ORPHA:124;Congenital erythropoietic porphyria, ORPHA:79277;Porphyria, congenital erythropoietic;Dyserythropoietic anemia with thrombocytopenia;Anaemia, X-linked, with/without neutropenia and/or platelet abnormalities, MIM# 300835;Thrombocytopenia, X-linked, with or without dyserythropoietic anaemia, MIM# 300367" False 1 0;0;0 1.116 False ENSG00000102145 ENSG00000102145 HGNC:4170 GATA5 gene GATA5 BabySeq Category C gene;Expert Review Red BabyScreen+ newborn screening Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Familial atrial fibrillation False 1 0;0;0 1.116 False ENSG00000130700 ENSG00000130700 HGNC:15802 GATA6 gene GATA6 BabySeq Category C gene;Expert Review Red BabyScreen+ newborn screening Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Atrial fibrillation False 1 0;0;0 1.116 False ENSG00000141448 ENSG00000141448 HGNC:4174 GATAD1 gene GATAD1 BabySeq Category C gene;Expert Review Red BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal Cardiomyopathy, dilated, 2B False 1 0;0;0 1.116 False ENSG00000157259 ENSG00000157259 HGNC:29941 GBE1 gene GBE1 BabySeq Category A gene;BabySeq Category C gene;Expert Review Red BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal Polyglucosan body disease, adult form;Glycogen storage disease IV False 1 0;0;0 1.116 False ENSG00000114480 ENSG00000114480 HGNC:4180 GCLC gene GCLC BabySeq Category C gene;Expert Review Red BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal Hemolytic anemia due to gamma-glutamylcysteine synthetase deficiency False 1 0;0;0 1.116 False ENSG00000001084 ENSG00000001084 HGNC:4311 GCSH gene GCSH BabySeq Category C gene;Expert Review Red BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal Glycine encephalopathy False 1 0;0;0 1.116 False ENSG00000140905 ENSG00000140905 HGNC:4208 GDAP1 gene GDAP1 BabySeq Category A gene;Expert Review Red BabyScreen+ newborn screening Screening BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal Charcot-Marie-Tooth disease, axonal, type 2K, MIM#607831;Charcot-Marie-Tooth disease, axonal, with vocal cord paresis, MIM#607706;Charcot-Marie-Tooth disease, recessive intermediate, A, MIM#608340;Charcot-Marie-Tooth disease, type 4A, MIM#214400 False 1 0;0;100 1.116 True ENSG00000104381 ENSG00000104381 HGNC:15968 GDF1 gene GDF1 BabySeq Category C gene;Expert Review Red BabyScreen+ newborn screening Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Congenital heart defects False 1 0;0;0 1.116 False ENSG00000130283 ENSG00000130283 HGNC:4214 GDNF gene GDNF BabySeq Category C gene;Expert Review Red BabyScreen+ newborn screening Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Hirschsprung disease;Central hypoventilation syndrome False 1 0;0;0 1.116 False ENSG00000168621 ENSG00000168621 HGNC:4232 GFER gene GFER BabySeq Category C gene;Expert Review Red BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal Myopathy, mitochondrial progressive, with congenital cataract, hearing loss, and developmental delay False 1 0;0;0 1.116 False ENSG00000127554 ENSG00000127554 HGNC:4236 GFM1 gene GFM1 BabySeq Category A gene;Expert Review Red BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal Combined oxidative phosphorylation deficiency 1, MIM#609060 False 1 0;50;50 1.116 True ENSG00000168827 ENSG00000168827 HGNC:13780 GFPT1 gene GFPT1 BabySeq Category A gene;BeginNGS;Expert Review Red BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal Congenital myasthenic syndrome, limb-girdle, MIM#610542 False 1 50;0;50 1.116 True ENSG00000198380 ENSG00000198380 HGNC:4241 GJA1 gene GJA1 BabySeq Category A gene;Expert Review Red BabyScreen+ newborn screening Screening BOTH monoallelic and biallelic, autosomal or pseudoautosomal Oculodentodigital dysplasia, autosomal recessive, MIM# 257850;Oculodentodigital dysplasia, MIM# 164200 False 1 0;0;100 1.116 True ENSG00000152661 ENSG00000152661 HGNC:4274 GJB1 gene GJB1 BabySeq Category A gene;Expert Review Red 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) Charcot-Marie-Tooth neuropathy, X-linked dominant, 1, MIM# 302800 False 1 0;0;100 1.116 True ENSG00000169562 ENSG00000169562 HGNC:4283 GJC2 gene GJC2 BabySeq Category A gene;Expert Review Red BabyScreen+ newborn screening Screening BOTH monoallelic and biallelic, autosomal or pseudoautosomal Spastic paraplegia 44, autosomal recessive MIM#613206;Leukodystrophy, hypomyelinating, 2 MIM#608804;Lymphatic malformation 3 MIM#613480 False 1 0;0;100 1.116 True ENSG00000198835 ENSG00000198835 HGNC:17494 GLB1 gene GLB1 BabySeq Category A gene;Expert Review Red BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal GM1-gangliosidosis, type I MIM#230500;GM1-gangliosidosis, type II MIM# 230600;GM1-gangliosidosis, type III MIM#230650;Mucopolysaccharidosis type IVB (Morquio) MIM#253010 34539759 False 1 0;0;100 1.116 True ENSG00000170266 ENSG00000170266 HGNC:4298 GLE1 gene GLE1 BabySeq Category C gene;Expert Review Red BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal Lethal arthrogryposis with anterior horn cell disease False 1 0;0;0 1.116 False ENSG00000119392 ENSG00000119392 HGNC:4315 GLI2 gene GLI2 BabySeq Category C gene;Expert Review Red BabyScreen+ newborn screening Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Holoprosencephaly-9 False 1 0;0;0 1.116 False ENSG00000074047 ENSG00000074047 HGNC:4318 GLI3 gene GLI3 BabySeq Category A gene;Expert Review Red BabyScreen+ newborn screening Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Polydactyly, postaxial, types A1 and B, MIM#174200;Greig cephalopolysyndactyly syndrome MIM#175700;Polydactyly, preaxial, type IV MIM#174700;Pallister-Hall syndrome MIM#146510 False 1 0;0;100 1.116 True ENSG00000106571 ENSG00000106571 HGNC:4319 GLRB gene GLRB BabySeq Category C gene;BeginNGS;Expert Review Red BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal "Hyperekplexia 2, autosomal recessive;Hyperekplexia 2, MIM# 614619" False 1 0;0;0 1.116 False ENSG00000109738 ENSG00000109738 HGNC:4329 GLUL gene GLUL BabySeq Category C gene;Expert Review Red BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal Congenital brain dysgenesis due to glutamine synthetase deficiency False 1 0;0;0 1.116 False ENSG00000135821 ENSG00000135821 HGNC:4341 GMPPA gene GMPPA BabySeq Category C gene;Expert Review Red BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal Congenital disorder of glycosylation False 1 0;0;0 1.116 False ENSG00000144591 ENSG00000144591 HGNC:22923 GNPTAB gene GNPTAB BabySeq Category A gene;Expert Review Red BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal Mucolipidosis II alpha/beta, MIM# 252500, MONDO:0009650;Mucolipidosis III alpha/beta, MIM# 252600, MONDO:0018931 False 1 0;0;100 1.116 True ENSG00000111670 ENSG00000111670 HGNC:29670 GNPTG gene GNPTG BabySeq Category A gene;Expert Review Red BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal Mucolipidosis III gamma, MIM# 252605 20301784 False 1 0;0;100 1.116 True ENSG00000090581 ENSG00000090581 HGNC:23026 GNS gene GNS BabySeq Category A gene;Expert Review Red BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal "Mucopolysaccharidosis type IIID, MIM# 252940" 31536183 False 1 0;0;100 1.116 True ENSG00000135677 ENSG00000135677 HGNC:4422 GPC3 gene GPC3 BabySeq Category A gene;Expert Review Red BabyScreen+ newborn screening Screening X-LINKED: hemizygous mutation in males, biallelic mutations in females Simpson-Golabi-Behmel syndrome, type 1, MIM# 312870 False 1 0;0;100 1.116 True ENSG00000147257 ENSG00000147257 HGNC:4451 GPC4 gene GPC4 BabySeq Category C gene;Expert Review Red BabyScreen+ newborn screening Screening X-LINKED: hemizygous mutation in males, biallelic mutations in females Simpson-Golabi-Behmel syndrome False 1 0;0;0 1.116 False ENSG00000076716 ENSG00000076716 HGNC:4452 GPC6 gene GPC6 BabySeq Category C gene;Expert Review Red BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal Omodysplasia False 1 0;0;0 1.116 False ENSG00000183098 ENSG00000183098 HGNC:4454 GPHN gene GPHN BabySeq Category C gene;Expert Review Red BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal Hyperekplexia False 1 0;0;0 1.116 False ENSG00000171723 ENSG00000171723 HGNC:15465 GPR143 gene GPR143 BabySeq Category A gene;Expert Review Red BabyScreen+ newborn screening Screening X-LINKED: hemizygous mutation in males, biallelic mutations in females Ocular albinism, type I, Nettleship-Falls type, MIM# 300500 False 1 0;0;100 1.116 True ENSG00000101850 ENSG00000101850 HGNC:20145 GPR161 gene GPR161 Expert list;Expert Review Red BabyScreen+ newborn screening Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Medulloblastoma predisposition syndrome MIM#155255 PMID: 31609649 False 1 0;0;100 1.116 True ENSG00000143147 ENSG00000143147 HGNC:23694 GPSM2 gene GPSM2 BabySeq Category A gene;Expert Review Red BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal Chudley-McCullough syndrome MIM#604213 False 1 0;0;100 1.116 True ENSG00000121957 ENSG00000121957 HGNC:29501 GPX1 gene GPX1 BabySeq Category C gene;Expert Review Red BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal Hemolytic anemia due to glutathione peroxidase deficiency False 1 0;0;0 1.116 False ENSG00000233276 ENSG00000233276 HGNC:4553 GRHL2 gene GRHL2 BabySeq Category C gene;Expert Review Red BabyScreen+ newborn screening Screening BOTH monoallelic and biallelic, autosomal or pseudoautosomal Ectodermal dysplasia/short stature syndrome MIM#616029;Corneal dystrophy, posterior polymorphous, 4, MIM# 618031;Deafness, autosomal dominant 28, MIM# 608641 False 1 0;0;100 1.116 True ENSG00000083307 ENSG00000083307 HGNC:2799 GRIN2A gene GRIN2A BabySeq Category C gene;Expert Review Red BabyScreen+ newborn screening Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Epilepsy with neurodevelopmental defects False 1 0;0;0 1.116 False ENSG00000183454 ENSG00000183454 HGNC:4585 GSS gene GSS BabySeq Category A gene;Expert Review Red BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal Glutathione synthetase deficiency, MIM# 266130;Haemolytic anemia due to glutathione synthetase deficiency 231900 False 1 0;0;100 1.116 True ENSG00000100983 ENSG00000100983 HGNC:4624 GTF2H5 gene GTF2H5 BabySeq Category C gene;Expert Review Red BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal Trichothiodystrophy False 1 0;0;0 1.116 False ENSG00000272047 ENSG00000272047 HGNC:21157 GUCY2C gene GUCY2C BabySeq Category C gene;Expert Review Red BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal Meconium ileus False 1 0;0;0 1.116 False ENSG00000070019 ENSG00000070019 HGNC:4688 GYG1 gene GYG1 BabySeq Category C gene;Expert Review Red BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal Glycogen storage disease XV False 1 0;0;0 1.116 False ENSG00000163754 ENSG00000163754 HGNC:4699 H19 gene H19 BabySeq Category A gene;Expert Review Red BabyScreen+ newborn screening Screening Unknown Beckwith-Wiedemann Syndrome False 1 0;0;0 1.116 False ENSG00000130600 ENSG00000130600 HGNC:4713 HAMP gene HAMP BabySeq Category C gene;Expert Review Red BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal Haemochromatosis False 1 0;0;0 1.116 False ENSG00000105697 ENSG00000105697 HGNC:15598 HARS gene HARS BabySeq Category C gene;Expert Review Red BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal Usher syndrome type 3B False 1 0;0;0 1.116 False ENSG00000170445 ENSG00000170445 HGNC:4816 HARS2 gene HARS2 BabySeq Category C gene;Expert Review Red BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal Perrault syndrome 2, MIM# 614926 False 1 0;0;100 1.116 True ENSG00000112855 ENSG00000112855 HGNC:4817 HAS2 gene HAS2 BabySeq Category C gene;Expert Review Red BabyScreen+ newborn screening Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Congenital heart disease False 1 0;0;0 1.116 False ENSG00000170961 ENSG00000170961 HGNC:4819 HCCS gene HCCS BabySeq Category C gene;Expert Review Red BabyScreen+ newborn screening Screening X-LINKED: hemizygous mutation in males, biallelic mutations in females Microphthalmia False 1 0;0;0 1.116 False ENSG00000004961 ENSG00000004961 HGNC:4837 HCFC1 gene HCFC1 BeginNGS;Expert Review Red BabyScreen+ newborn screening Screening X-LINKED: hemizygous mutation in males, biallelic mutations in females "Methylmalonic aciduria and homocysteinemia, cblX type, MIM# 309541" 20301503;26893841;35337626 False 1 0;0;100 1.116 True ENSG00000172534 ENSG00000172534 HGNC:4839 HCN4 gene HCN4 BabySeq Category C gene;Expert Review Red BabyScreen+ newborn screening Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Brugada syndrome False 1 0;0;0 1.116 False ENSG00000138622 ENSG00000138622 HGNC:16882 HDAC8 gene HDAC8 BabySeq Category A gene;Expert Review Red 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) Cornelia de Lange syndrome 5, MIM# 300882 False 1 0;0;100 1.116 True ENSG00000147099 ENSG00000147099 HGNC:13315 HERC2 gene HERC2 BabySeq Category C gene;Expert Review Red BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal Autism spectrum disorder False 1 0;0;0 1.116 False ENSG00000128731 ENSG00000128731 HGNC:4868 HEXA gene HEXA BabySeq Category A gene;Expert Review Red BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal GM2-gangliosidosis, several forms 272800;Tay-Sachs disease 272800 False 1 0;0;100 1.116 True ENSG00000213614 ENSG00000213614 HGNC:4878 HEXB gene HEXB BabySeq Category A gene;Expert Review Red BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal Sandhoff disease, infantile, juvenile, and adult forms, MIM# 268800 False 1 0;0;100 1.116 True ENSG00000049860 ENSG00000049860 HGNC:4879 HFE gene HFE BabySeq Category C gene;Expert Review Red BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal Hemochromatosis False 1 0;0;0 1.116 False ENSG00000010704 ENSG00000010704 HGNC:4886 HFE2 gene HFE2 BabySeq Category C gene;Expert Review Red BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal Haemochromatosis False 1 0;0;0 1.116 False ENSG00000168509 ENSG00000168509 HGNC:4887 HGSNAT gene HGSNAT BabySeq Category A gene;Expert Review Red BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal Mucopolysaccharidosis type IIIC (Sanfilippo C), MIM# 252930 False 1 0;0;100 1.116 True ENSG00000165102 ENSG00000165102 HGNC:26527 HINT1 gene HINT1 BabySeq Category A gene;Expert Review Red BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal Neuromyotonia and axonal neuropathy, autosomal recessive, MIM# 137200;Gamstorp-Wohlfart syndrome, MONDO:0007646 False 1 0;0;100 1.116 True ENSG00000169567 ENSG00000169567 HGNC:4912 HMBS gene HMBS BabySeq Category C gene;Expert Review Red BabyScreen+ newborn screening Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Porphyria, acute intermittent False 1 0;0;0 1.116 False ENSG00000256269 ENSG00000256269 HGNC:4982 HNF1B gene HNF1B BabySeq Category C gene;Expert Review Red BabyScreen+ newborn screening Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Renal cysts and diabetes syndrome False 1 0;0;0 1.116 False ENSG00000108753 ENSG00000275410 HGNC:11630 HOMER2 gene HOMER2 Expert list;Expert Review Red BabyScreen+ newborn screening Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Deafness, autosomal dominant 68, MIM# 616707 False 1 0;0;100 1.116 True ENSG00000103942 ENSG00000103942 HGNC:17513 HOMEZ gene HOMEZ BabySeq Category C gene;Expert Review Red BabyScreen+ newborn screening Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Congenital heart disease False 1 0;0;0 1.116 False ENSG00000215271 ENSG00000215271 HGNC:20164 HOXA1 gene HOXA1 BabySeq Category C gene;Expert Review Red BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal Athabaskan brainstem dysgenesis syndrome False 1 0;0;0 1.116 False ENSG00000105991 ENSG00000105991 HGNC:5099 HPD gene HPD BabySeq Category C gene;BeginNGS;Expert Review Red BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal "Tyrosinemia, type III;Hawkinsinuria , MIM#140350;Tyrosinaemia, type III 276710" 9343288;32520295;11916315 False 1 0;50;50 1.116 True ENSG00000158104 ENSG00000158104 HGNC:5147 HPRT1 gene HPRT1 BabySeq Category A gene;Expert Review Red BabyScreen+ newborn screening Screening X-LINKED: hemizygous mutation in males, biallelic mutations in females Lesch-Nyhan syndrome, MIM# 300322 18067674 False 1 0;50;50 1.116 True ENSG00000165704 ENSG00000165704 HGNC:5157 HPS1 gene HPS1 BabySeq Category A gene;Expert Review Red BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal Hermansky-Pudlak syndrome 1, MIM# 203300 False 1 0;0;100 1.116 True ENSG00000107521 ENSG00000107521 HGNC:5163 HPS3 gene HPS3 BabySeq Category A gene;Expert Review Red BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal Hermansky-Pudlak syndrome 3, MIM# 614072 False 1 0;0;100 1.116 True ENSG00000163755 ENSG00000163755 HGNC:15597 HPS4 gene HPS4 BabySeq Category A gene;Expert Review Red BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal Hermansky-Pudlak syndrome 4, MIM# 614073 False 1 0;0;100 1.116 True ENSG00000100099 ENSG00000100099 HGNC:15844 HPS5 gene HPS5 BabySeq Category A gene;Expert Review Red BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal Hermansky-Pudlak syndrome 5 (MIM#614074) False 1 0;0;100 1.116 True ENSG00000110756 ENSG00000110756 HGNC:17022 HPS6 gene HPS6 BabySeq Category C gene;Expert Review Red BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal Hermansky-Pudlak syndrome 6 False 1 0;0;0 1.116 False ENSG00000166189 ENSG00000166189 HGNC:18817 HRAS gene HRAS BabySeq Category A gene;Expert Review Red BabyScreen+ newborn screening Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Costello syndrome, MIM# 218040 False 1 0;0;100 1.116 True ENSG00000174775 ENSG00000174775 HGNC:5173 HSD17B10 gene HSD17B10 BabySeq Category A gene;Expert Review Red BabyScreen+ newborn screening Screening X-LINKED: hemizygous mutation in males, biallelic mutations in females HSD10 mitochondrial disease, MIM# 300438 22127393 False 1 0;0;100 1.116 True ENSG00000072506 ENSG00000072506 HGNC:4800 HSD17B3 gene HSD17B3 BabySeq Category A gene;Expert Review Red BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal Pseudohermaphroditism, male, with gynecomastia MIM#264300 False 1 0;0;100 1.116 True ENSG00000130948 ENSG00000130948 HGNC:5212 HSD17B4 gene HSD17B4 BabySeq Category A gene;Expert Review Red BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal D-bifunctional protein deficiency, AR (MIM#261515);Perrault syndrome 1, AR (MIM#233400) False 1 0;0;100 1.116 True ENSG00000133835 ENSG00000133835 HGNC:5213 HSPB8 gene HSPB8 BabySeq Category A gene;Expert Review Red BabyScreen+ newborn screening Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Neuropathy, distal hereditary motor type IIA, 158590;Charcot-Marie-Tooth disease, axonal, type 2L, MIM# 608673 False 1 0;0;100 1.116 True ENSG00000152137 ENSG00000152137 HGNC:30171 HSPG2 gene HSPG2 BabySeq Category A gene;Expert Review Red BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal Schwartz-Jampel syndrome, type 1, MIM# 255800;MONDO:0009717;Dyssegmental dysplasia, Silverman-Handmaker type, MIM# 224410;MONDO:0009140 False 1 0;0;100 1.116 True ENSG00000142798 ENSG00000142798 HGNC:5273 HTRA1 gene HTRA1 BabySeq Category A gene;Expert Review Red BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal CARASIL syndrome, MIM# 600142 False 1 0;0;100 1.116 True ENSG00000166033 ENSG00000166033 HGNC:9476 HYDIN gene HYDIN BabySeq Category C gene;Expert Review Red BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal Primary ciliary dyskinesia False 1 0;0;0 1.116 False ENSG00000157423 ENSG00000157423 HGNC:19368 HYLS1 gene HYLS1 BabySeq Category C gene;Expert Review Red BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal Hydrolethalus syndrome False 1 0;0;0 1.116 False ENSG00000198331 ENSG00000198331 HGNC:26558 IFT122 gene IFT122 BabySeq Category C gene;Expert Review Red BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal Cranioectodermal dysplasia False 1 0;0;0 1.116 False ENSG00000163913 ENSG00000163913 HGNC:13556 IFT43 gene IFT43 BabySeq Category C gene;Expert Review Red BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal Cranioectodermal dysplasia False 1 0;0;0 1.116 False ENSG00000119650 ENSG00000119650 HGNC:29669 IFT80 gene IFT80 BabySeq Category C gene;Expert Review Red BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal Asphyxiating thoracic dystrophy 2 False 1 0;0;0 1.116 False ENSG00000068885 ENSG00000068885 HGNC:29262 IGBP1 gene IGBP1 BabySeq Category C gene;Expert Review Red BabyScreen+ newborn screening Screening X-LINKED: hemizygous mutation in males, biallelic mutations in females Agenesis of the corpus callosum - intellectual deficit - coloboma - micrognathia False 1 0;0;0 1.116 False ENSG00000089289 ENSG00000089289 HGNC:5461 IGHMBP2 gene IGHMBP2 BabySeq Category A gene;Expert Review Red BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal Neuronopathy, distal hereditary motor, type VI, MIM# 604320;Charcot-Marie-Tooth disease, axonal, type 2S, MIM# 616155 False 1 0;0;100 1.116 True ENSG00000132740 ENSG00000132740 HGNC:5542 ILK gene ILK BabySeq Category C gene;Expert Review Red BabyScreen+ newborn screening Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Cardiomyopathy, dilated False 1 0;0;0 1.116 False ENSG00000166333 ENSG00000166333 HGNC:6040 INSR gene INSR BabySeq Category A gene;Expert Review Red BabyScreen+ newborn screening Screening BOTH monoallelic and biallelic, autosomal or pseudoautosomal Hyperinsulinemic hypoglycemia, familial, 5, MIM# 609968;Leprechaunism, MIM# 246200;Rabson-Mendenhall syndrome, MIM# 262190 False 1 0;0;100 1.116 True ENSG00000171105 ENSG00000171105 HGNC:6091 INVS gene INVS BabySeq Category A gene;Expert Review Red BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal Nephronophthisis 2, infantile, (MIM#602088) False 1 0;0;100 1.116 True ENSG00000119509 ENSG00000119509 HGNC:17870 IQCB1 gene IQCB1 BabySeq Category A gene;Expert Review Red BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal Senior-Loken syndrome 5, MIM# 609254 False 1 0;0;100 1.116 True ENSG00000173226 ENSG00000173226 HGNC:28949 IRF6 gene IRF6 BabySeq Category A gene;BabySeq Category C gene;Expert Review Red BabyScreen+ newborn screening Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Popliteal pterygium syndrome 1MIM#119500;van der Woude syndrome MIM#119300 False 1 0;0;100 1.116 True ENSG00000117595 ENSG00000117595 HGNC:6121 IRS1 gene IRS1 BabySeq Category C gene;Expert Review Red BabyScreen+ newborn screening Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Diabetes mellitus, noninsulin dependent False 1 0;0;0 1.116 False ENSG00000169047 ENSG00000169047 HGNC:6125 ISCU gene ISCU BabySeq Category C gene;Expert Review Red BabyScreen+ newborn screening Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Myopathy with defiency of succinate dehydrogenase False 1 0;0;0 1.116 False ENSG00000136003 ENSG00000136003 HGNC:29882 ISL1 gene ISL1 BabySeq Category C gene;Expert Review Red BabyScreen+ newborn screening Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Diabetes, type 2 False 1 0;0;0 1.116 False ENSG00000016082 ENSG00000016082 HGNC:6132 ISPD gene ISPD BabySeq Category A gene;Expert Review Red BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7, MIM# 614643 Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 7, MIM# 616052 False 1 0;0;100 1.116 True ENSG00000214960 ENSG00000214960 HGNC:37276 ITGA3 gene ITGA3 BabySeq Category C gene;Expert Review Red BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal Interstitial lung disease, nephrotic syndrome, and epidermolysis bullosa, congenital False 1 0;0;100 1.116 True ENSG00000005884 ENSG00000005884 HGNC:6139 ITGA6 gene ITGA6 BabySeq Category C gene;Expert Review Red BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal Epidermolysis bullosa, junctional, with pyloric stenosis False 1 0;0;0 1.116 False ENSG00000091409 ENSG00000091409 HGNC:6142 ITGA7 gene ITGA7 BabySeq Category C gene;Expert Review Red BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal Congenital muscular dystrophy with integrin deficiency False 1 0;0;0 1.116 False ENSG00000135424 ENSG00000135424 HGNC:6143 ITGB4 gene ITGB4 BabySeq Category A gene;Expert Review Red BabyScreen+ newborn screening Screening BOTH monoallelic and biallelic, autosomal or pseudoautosomal Epidermolysis bullosa of hands and feet, MIM# 131800;Epidermolysis bullosa, junctional, non-Herlitz type, MIM# 226650;Epidermolysis bullosa, junctional, with pyloric atresia, MIM# 226730 False 1 0;0;100 1.116 True ENSG00000132470 ENSG00000132470 HGNC:6158 JAG1 gene JAG1 BabySeq Category A gene;Expert Review Red BabyScreen+ newborn screening Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Alagille syndrome, MIM# 1 118450 False 1 0;0;100 1.116 True ENSG00000101384 ENSG00000101384 HGNC:6188 JPH2 gene JPH2 BabySeq Category C gene;Expert Review Red BabyScreen+ newborn screening Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Cardiomyopathy, hypertrophic False 1 0;0;0 1.116 False ENSG00000149596 ENSG00000149596 HGNC:14202 KANSL1 gene KANSL1 BabySeq Category A gene;Expert Review Red BabyScreen+ newborn screening Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Koolen-De Vries syndrome, MIM# 610443 False 1 0;0;100 1.116 True ENSG00000120071 ENSG00000120071 HGNC:24565 KARS gene KARS BabySeq Category C gene;Expert Review Red BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal Leukoencephalopathy with or without deafness (LEPID), MIM#619147;Deafness, autosomal recessive 89, MIM# 613916;Congenital deafness and adult-onset progressive leukoencephalopathy (DEAPLE), MIM#619196 30737337;30715177;31116475 False 1 0;50;50 1.116 True ENSG00000065427 ENSG00000065427 HGNC:6215 KAT6B gene KAT6B BabySeq Category A gene;Expert Review Red BabyScreen+ newborn screening Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted SBBYSS syndrome MIM #603736;Genitopatellar syndrome MIM #606170 False 1 0;0;100 1.116 True ENSG00000156650 ENSG00000156650 HGNC:17582 KBTBD13 gene KBTBD13 BabySeq Category A gene;Expert Review Red BabyScreen+ newborn screening Screening BOTH monoallelic and biallelic, autosomal or pseudoautosomal Nemaline myopathy 6, autosomal dominant, MIM# 609273;Hereditary motor neuropathy late-onset;limb girdle muscular dystrophy False 1 0;0;100 1.116 True ENSG00000234438 ENSG00000234438 HGNC:37227 KCNA1 gene KCNA1 BabySeq Category A gene;Expert Review Red BabyScreen+ newborn screening Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Episodic ataxia/myokymia syndrome, MIM# 160120 False 1 0;0;100 1.116 True ENSG00000111262 ENSG00000111262 HGNC:6218 KCNA5 gene KCNA5 BabySeq Category B gene;Expert Review Red BabyScreen+ newborn screening Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Atrial fibrillation, familial, 7, MIM# 612240 False 1 0;0;100 1.116 True ENSG00000130037 ENSG00000130037 HGNC:6224 KCND3 gene KCND3 BabySeq Category C gene;Expert Review Red BabyScreen+ newborn screening Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Brugada syndrome False 1 0;0;0 1.116 False ENSG00000171385 ENSG00000171385 HGNC:6239 KCNE3 gene KCNE3 BabySeq Category C gene;Expert Review Red BabyScreen+ newborn screening Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Brugada syndrome False 1 0;0;0 1.116 False ENSG00000175538 ENSG00000175538 HGNC:6243 KCNE5 gene KCNE5 BabySeq Category C gene;Expert Review Red BabyScreen+ newborn screening Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Atrial fibrillation False 1 0;0;0 1.116 False ENSG00000176076 ENSG00000176076 HGNC:6241 KCNJ18 gene KCNJ18 BabySeq Category C gene;Expert Review Red BabyScreen+ newborn screening Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Hypokalaemic periodic paralysis False 1 0;0;0 1.116 False - ENSG00000260458 HGNC:39080 KCNJ5 gene KCNJ5 BabySeq Category C gene;Expert Review Red BabyScreen+ newborn screening Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Long QT syndrome False 1 0;0;0 1.116 False ENSG00000120457 ENSG00000120457 HGNC:6266 KCNJ8 gene KCNJ8 BabySeq Category C gene;Expert Review Red BabyScreen+ newborn screening Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Sudden infant death syndrom False 1 0;0;0 1.116 False ENSG00000121361 ENSG00000121361 HGNC:6269 KCNQ1OT1 gene KCNQ1OT1 BabySeq Category C gene;Expert Review Red BabyScreen+ newborn screening Screening Unknown Beckwith-Wiedemann syndrome False 1 0;0;0 1.116 False ENSG00000269821 ENSG00000269821 HGNC:6295 KCNQ2 gene KCNQ2 BabySeq Category C gene;BeginNGS;Expert Review Red BabyScreen+ newborn screening Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted "Seizures, benign neonatal, 1, MIM# 121200;Epilepsy, benign neonatal;Developmental and epileptic encephalopathy 7, MIM# 613720" False 1 0;0;0 1.116 False ENSG00000075043 ENSG00000075043 HGNC:6296 KCNQ3 gene KCNQ3 BabySeq Category C gene;Expert Review Red BabyScreen+ newborn screening Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Epilepsy, benign neonatal False 1 0;0;0 1.116 False ENSG00000184156 ENSG00000184156 HGNC:6297 KCNQ4 gene KCNQ4 BabySeq Category A gene;Expert Review Red BabyScreen+ newborn screening Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Deafness, autosomal dominant 2A, MIM# 600101 False 1 0;0;100 1.116 True ENSG00000117013 ENSG00000117013 HGNC:6298 KCNT1 gene KCNT1 BeginNGS;Expert Review Red BabyScreen+ newborn screening Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted "Developmental and epileptic encephalopathy 14, MIM# 614959" False 1 0;0;100 1.116 True ENSG00000107147 ENSG00000107147 HGNC:18865 KCTD7 gene KCTD7 BabySeq Category A gene;Expert Review Red BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal Epilepsy, progressive myoclonic 3, with or without intracellular inclusions (MIM#611726) False 1 0;0;100 1.116 True ENSG00000243335 ENSG00000243335 HGNC:21957 KDM5B gene KDM5B BabySeq Category C gene;Expert Review Red BabyScreen+ newborn screening Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Congenital heart disease False 1 0;0;0 1.116 False ENSG00000117139 ENSG00000117139 HGNC:18039 KDM6A gene KDM6A BabySeq Category A gene;Expert Review Red 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) Kabuki syndrome 2, MIM#300867 False 1 0;0;100 1.116 True ENSG00000147050 ENSG00000147050 HGNC:12637 KIF1B gene KIF1B BabySeq Category C gene;Expert Review Red BabyScreen+ newborn screening Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Charcot-Marie-Tooth disease False 1 0;0;0 1.116 False ENSG00000054523 ENSG00000054523 HGNC:16636 KIF1BP gene KIF1BP BabySeq Category C gene;Expert Review Red BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal Goldberg-Shprintzen megacolon syndrome False 1 0;0;0 1.116 False ENSG00000198954 ENSG00000198954 HGNC:23419 KIF21A gene KIF21A BabySeq Category A gene;Expert Review Red BabyScreen+ newborn screening Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Fibrosis of extraocular muscles, congenital, 1/3B, MIM# 135700 False 1 0;0;100 1.116 True ENSG00000139116 ENSG00000139116 HGNC:19349 KIF22 gene KIF22 BabySeq Category C gene;Expert Review Red BabyScreen+ newborn screening Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Spondyloepimetaphyseal dysplasia with joint laxity, type 2 False 1 0;0;0 1.116 False ENSG00000079616 ENSG00000079616 HGNC:6391 KIT gene KIT BabySeq Category A gene;Expert Review Red BabyScreen+ newborn screening Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Piebaldism, MIM# 172800 Gastrointestinal stromal tumor, familial, MIM# 606764 False 1 0;0;100 1.116 True ENSG00000157404 ENSG00000157404 HGNC:6342 KLF1 gene KLF1 BabySeq Category C gene;Expert Review Red BabyScreen+ newborn screening Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Dyserythropoietic anaemia, congenital, type IV, MIM# 613673 33339573;32815883;32032242;21055716;32221653;31818881 False 1 0;0;100 1.116 True ENSG00000105610 ENSG00000105610 HGNC:6345 KLHL40 gene KLHL40 BabySeq Category A gene;Expert Review Red BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal Nemaline myopathy 8, autosomal recessive, MIM# 615348 False 1 0;0;100 1.116 True ENSG00000157119 ENSG00000157119 HGNC:30372 KLHL41 gene KLHL41 BabySeq Category A gene;Expert Review Red BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal Nemaline myopathy 9, MIM# 615731 False 1 0;0;100 1.116 True ENSG00000239474 ENSG00000239474 HGNC:16905 KMT2D gene KMT2D BabySeq Category A gene;Expert Review Red BabyScreen+ newborn screening Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Kabuki syndrome 1, MIM# 147920 False 1 0;0;100 1.116 True ENSG00000167548 ENSG00000167548 HGNC:7133 KPTN gene KPTN BabySeq Category C gene;Expert Review Red BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal Macrocephaly, neurodevelopmental delay, and seizures False 1 0;0;0 1.116 False ENSG00000118162 ENSG00000118162 HGNC:6404 KRAS gene KRAS BabySeq Category A gene;Expert Review Red BabyScreen+ newborn screening Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Cardiofaciocutaneous syndrome 2, MIM# 615278;Noonan syndrome 3, MIM# 609942 False 1 0;0;100 1.116 True ENSG00000133703 ENSG00000133703 HGNC:6407 KRT14 gene KRT14 BabySeq Category A gene;Expert Review Red BabyScreen+ newborn screening Screening BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal Epidermolysis bullosa simplex, recessive 1, 601001;Dermatopathia pigmentosa reticularis, 125595;Epidermolysis bullosa simplex, Dowling-Meara type, 131760;Epidermolysis bullosa simplex, Koebner type, 131900;Epidermolysis bullosa simplex, Weber-Cockayne type, 131800;Naegeli-Franceschetti-Jadassohn syndrome, 161000 False 1 0;0;100 1.116 True ENSG00000186847 ENSG00000186847 HGNC:6416 KRT16 gene KRT16 BabySeq Category A gene;Expert Review Red BabyScreen+ newborn screening Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Palmoplantar keratoderma, nonepidermolytic, focal (MIM#613000) Pachyonychia congenita 1 (MIM#167200) False 1 0;0;100 1.116 True ENSG00000186832 ENSG00000186832 HGNC:6423 KRT17 gene KRT17 BabySeq Category A gene;Expert Review Red BabyScreen+ newborn screening Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Pachyonychia congenita 2, MIM#167210 Steatocystoma multiplex, MIM# 184500 False 1 0;0;100 1.116 True ENSG00000128422 ENSG00000128422 HGNC:6427 KRT18 gene KRT18 BabySeq Category C gene;Expert Review Red BabyScreen+ newborn screening Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Cirrhosis, cryptogenic False 1 0;0;0 1.116 False ENSG00000111057 ENSG00000111057 HGNC:6430 KRT5 gene KRT5 BabySeq Category A gene;Expert Review Red BabyScreen+ newborn screening Screening BOTH monoallelic and biallelic, autosomal or pseudoautosomal Dowling-Degos disease 1, MIM# 179850;Epidermolysis bullosa simplex-MCR, MIM# 609352;Epidermolysis bullosa simplex-MP 131960;Epidermolysis bullosa simplex, Dowling-Meara type, MIM# 131760;Epidermolysis bullosa simplex, Koebner type, MIM# 131900;Epidermolysis bullosa simplex, recessive 1, MIM# 601001;Epidermolysis bullosa simplex, Weber-Cockayne type, MIM# 131800 False 1 0;0;100 1.116 True ENSG00000186081 ENSG00000186081 HGNC:6442 KRT6A gene KRT6A BabySeq Category A gene;Expert Review Red BabyScreen+ newborn screening Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Pachyonychia congenita 3 (MIM#615726) False 1 0;0;100 1.116 True ENSG00000205420 ENSG00000205420 HGNC:6443 KRT6B gene KRT6B BabySeq Category C gene;Expert Review Red BabyScreen+ newborn screening Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Pachyonychia congenita False 1 0;0;0 1.116 False ENSG00000185479 ENSG00000185479 HGNC:6444 KRT8 gene KRT8 BabySeq Category C gene;Expert Review Red BabyScreen+ newborn screening Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Cirrhosis, cryptogenic False 1 0;0;0 1.116 False ENSG00000170421 ENSG00000170421 HGNC:6446 L1CAM gene L1CAM BabySeq Category A gene;Expert Review Red BabyScreen+ newborn screening Screening X-LINKED: hemizygous mutation in males, biallelic mutations in females Hydrocephalus due to aqueductal stenosis, MIM# 307000 False 1 50;0;50 1.116 True ENSG00000198910 ENSG00000198910 HGNC:6470 LAMA3 gene LAMA3 BabySeq Category A gene;Expert Review Red BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal Epidermolysis bullosa, junctional 2B, severe, MIM# 619784 False 1 50;0;50 1.116 True ENSG00000053747 ENSG00000053747 HGNC:6483 LAMA4 gene LAMA4 BabySeq Category C gene;Expert Review Red BabyScreen+ newborn screening Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Cardiomyopathy, dilated False 1 0;0;0 1.116 False ENSG00000112769 ENSG00000112769 HGNC:6484 LAMB2 gene LAMB2 BabySeq Category A gene;Expert Review Red BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal Nephrotic syndrome, type 5, with or without ocular abnormalities, MIM# 614199;Pierson syndrome, MIM# 609049 False 1 50;0;50 1.116 True ENSG00000172037 ENSG00000172037 HGNC:6487 LAMB3 gene LAMB3 BabySeq Category A gene;Expert Review Red BabyScreen+ newborn screening Screening BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal Amelogenesis imperfecta, type IA, MIM# 104530;Epidermolysis bullosa, junctional, Herlitz type, MIM# 226700;Epidermolysis bullosa, junctional, non-Herlitz type, MIM# 226650 False 1 0;0;100 1.116 True ENSG00000196878 ENSG00000196878 HGNC:6490 LAMC2 gene LAMC2 BabySeq Category A gene;Expert Review Red BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal Epidermolysis bullosa, junctional 3B, severe, MIM# 619786 False 1 50;0;50 1.116 True ENSG00000058085 ENSG00000058085 HGNC:6493 LAMTOR2 gene LAMTOR2 BeginNGS;Expert Review Red BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal "Immunodeficiency due to defect in MAPBP-interacting protein, MIM# 610798" 17195838 False 1 0;0;100 1.116 True ENSG00000116586 ENSG00000116586 HGNC:29796 LARGE1 gene LARGE1 BabySeq Category A gene;Expert Review Red BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 6, MIM# 613154;Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 6, MIM# 608840 False 1 50;0;50 1.116 True ENSG00000133424 ENSG00000133424 HGNC:6511 LARS gene LARS BabySeq Category C gene;Expert Review Red BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal Infantile liver failure syndrome False 1 0;0;0 1.116 False ENSG00000133706 ENSG00000133706 HGNC:6512 LARS2 gene LARS2 BabySeq Category C gene;Expert Review Red BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal "Hydrops, lactic acidosis, and sideroblastic anemia, MIM# 617021;Perrault syndrome 4, MIM# 615300" False 1 50;0;50 1.116 True ENSG00000011376 ENSG00000011376 HGNC:17095 LBR gene LBR BabySeq Category A gene;BabySeq Category C gene;Expert Review Red BabyScreen+ newborn screening Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Pelger-Huet anomaly;Reynolds syndrome False 1 0;0;0 1.116 False ENSG00000143815 ENSG00000143815 HGNC:6518 LDB3 gene LDB3 BabySeq Category C gene;Expert Review Red BabyScreen+ newborn screening Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Myofibrillar myopathy False 1 0;0;0 1.116 False ENSG00000122367 ENSG00000122367 HGNC:15710 LGI1 gene LGI1 BabySeq Category C gene;Expert Review Red BabyScreen+ newborn screening Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Epilepsy, familial temporal lobe, 1 False 1 0;0;0 1.116 False ENSG00000108231 ENSG00000108231 HGNC:6572 LHB gene LHB BabySeq Category C gene;Expert Review Red BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal Hypogonadism False 1 0;0;0 1.116 False ENSG00000104826 ENSG00000104826 HGNC:6584 LIAS gene LIAS Expert Review;Expert Review Red BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal Hyperglycinemia, lactic acidosis, and seizures MIM#614462 24334290;24777537 False 1 0;0;100 1.116 True ENSG00000121897 ENSG00000121897 HGNC:16429 LIFR gene LIFR BabySeq Category A gene;Expert Review Red BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal Stuve-Wiedemann syndrome/Schwartz-Jampel type 2 syndrome, MIM# 601559 False 1 50;0;50 1.116 True ENSG00000113594 ENSG00000113594 HGNC:6597 LITAF gene LITAF BabySeq Category A gene;Expert Review Red BabyScreen+ newborn screening Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Charcot-Marie-Tooth disease, type 1C, MIM# 601098 False 1 0;0;100 1.116 True ENSG00000189067 ENSG00000189067 HGNC:16841 LMNB2 gene LMNB2 BabySeq Category C gene;Expert Review Red BabyScreen+ newborn screening Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Lipodystrophy, partial False 1 0;0;0 1.116 False ENSG00000176619 ENSG00000176619 HGNC:6638 LMOD3 gene LMOD3 BabySeq Category A gene;Expert Review Red BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal Nemaline myopathy 10, MIM# 616165 False 1 50;0;50 1.116 True ENSG00000163380 ENSG00000163380 HGNC:6649 LMX1A gene LMX1A Expert list;Expert Review Red BabyScreen+ newborn screening Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Deafness, autosomal dominant 7 MIM#601412 PMID: 29754270 False 1 0;0;100 1.116 True ENSG00000162761 ENSG00000162761 HGNC:6653 LMX1B gene LMX1B BabySeq Category A gene;Expert Review Red BabyScreen+ newborn screening Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Nail-patella syndrome, MIM# 161200, MONDO:0008061 False 1 50;0;50 1.116 True ENSG00000136944 ENSG00000136944 HGNC:6654 LPIN2 gene LPIN2 BabySeq Category C gene;Expert Review Red BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal Majeed syndrome False 1 0;0;0 1.116 False ENSG00000101577 ENSG00000101577 HGNC:14450 LPP gene LPP BabySeq Category C gene;Expert Review Red BabyScreen+ newborn screening Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Tetralogy of Fallot False 1 0;0;0 1.116 False ENSG00000145012 ENSG00000145012 HGNC:6679 LRP2 gene LRP2 BabySeq Category A gene;Expert Review Red BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal Donnai-Barrow syndrome, MIM#222448 False 1 50;0;50 1.116 True ENSG00000081479 ENSG00000081479 HGNC:6694 LRP4 gene LRP4 BabySeq Category A gene;BeginNGS;Expert Review Red BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal Myasthenic syndrome, congenital, 17 , MIM#616304 False 1 50;0;50 1.116 True ENSG00000134569 ENSG00000134569 HGNC:6696 LRPPRC gene LRPPRC BabySeq Category A gene;Expert Review Red BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex IV deficiency, nuclear type 5, (French-Canadian) MIM#220111 False 1 50;0;50 1.116 True ENSG00000138095 ENSG00000138095 HGNC:15714 LRRC6 gene LRRC6 BabySeq Category A gene;Expert Review Red BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal Ciliary dyskinesia, primary, 19, MIM# 614935 False 1 50;0;50 1.116 True ENSG00000129295 ENSG00000129295 HGNC:16725 LRRK2 gene LRRK2 BabySeq Category C gene;Expert Review Red BabyScreen+ newborn screening Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Parkinson disease False 1 0;0;0 1.116 False ENSG00000188906 ENSG00000188906 HGNC:18618 LRSAM1 gene LRSAM1 BabySeq Category A gene;Expert Review Red BabyScreen+ newborn screening Screening BOTH monoallelic and biallelic, autosomal or pseudoautosomal Charcot-Marie-Tooth disease, axonal, type 2P, MIM# 614436 False 1 0;0;100 1.116 True ENSG00000148356 ENSG00000148356 HGNC:25135 LTBP4 gene LTBP4 BabySeq Category A gene;Expert Review Red BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal Cutis laxa, autosomal recessive, type IC (MIM# 613177) False 1 50;0;50 1.116 True ENSG00000090006 ENSG00000090006 HGNC:6717 LUM gene LUM BabySeq Category C gene;Expert Review Red BabyScreen+ newborn screening Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Amyotrophic lateral sclerosis False 1 0;0;0 1.116 False ENSG00000139329 ENSG00000139329 HGNC:6724 LYZ gene LYZ BabySeq Category C gene;Expert Review Red BabyScreen+ newborn screening Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Amyloidosis, systemic False 1 0;0;0 1.116 False ENSG00000090382 ENSG00000090382 HGNC:6740 MAD2L2 gene MAD2L2 BeginNGS;Expert Review Red BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal "Fanconi anemia, complementation group V, MIM# 617243" 27500492 False 1 0;0;100 1.116 True ENSG00000116670 ENSG00000116670 HGNC:6764 MAGI2 gene MAGI2 BabySeq Category A gene;Expert Review Red BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal Nephrotic syndrome, type 15, MIM# 617609 False 1 0;50;50 1.116 True ENSG00000187391 ENSG00000187391 HGNC:18957 MAP2K1 gene MAP2K1 BabySeq Category A gene;Expert Review Red BabyScreen+ newborn screening Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Cardiofaciocutaneous syndrome 3, MIM# 615279 False 1 0;0;100 1.116 True ENSG00000169032 ENSG00000169032 HGNC:6840 MAP2K2 gene MAP2K2 BabySeq Category A gene;Expert Review Red BabyScreen+ newborn screening Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Cardiofaciocutaneous syndrome 4, MIM# 615280 False 1 0;0;100 1.116 True ENSG00000126934 ENSG00000126934 HGNC:6842 MAPK10 gene MAPK10 BabySeq Category C gene;Expert Review Red BabyScreen+ newborn screening Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Epileptic encephalopathy False 1 0;0;0 1.116 False ENSG00000109339 ENSG00000109339 HGNC:6872 MAPT gene MAPT BabySeq Category C gene;Expert Review Red BabyScreen+ newborn screening Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Dementia, frontotemporal, with or without parkinsonism False 1 0;0;0 1.116 False ENSG00000186868 ENSG00000186868 HGNC:6893 MAT1A gene MAT1A BabySeq Category C gene;Expert Review Red BabyScreen+ newborn screening Screening BOTH monoallelic and biallelic, autosomal or pseudoautosomal Methionine adenosyltransferase deficiency MIM#250850 False 1 0;0;100 1.116 True ENSG00000151224 ENSG00000151224 HGNC:6903 MATN4 gene MATN4 BabySeq Category C gene;Expert Review Red BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal Multiple anomalies False 1 0;0;0 1.116 False ENSG00000124159 ENSG00000124159 HGNC:6910 MBTPS2 gene MBTPS2 BabySeq Category A gene;Expert Review Red BabyScreen+ newborn screening Screening X-LINKED: hemizygous mutation in males, biallelic mutations in females IFAP syndrome with or without BRESHECK syndrome MIM#308205 False 1 0;0;100 1.116 True ENSG00000012174 ENSG00000012174 HGNC:15455 MCCC1 gene MCCC1 BabySeq Category B gene;BeginNGS;Expert Review Red BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal 3-Methylcrotonyl-CoA carboxylase 1 deficiency MIM#210200 22642865;31730530 False 1 0;50;50 1.116 True ENSG00000078070 ENSG00000078070 HGNC:6936 MCCC2 gene MCCC2 BabySeq Category B gene;BeginNGS;Expert Review Red BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal 3-Methylcrotonyl-CoA carboxylase 2 deficiency MIM#210210 22642865 False 1 0;0;100 1.116 True ENSG00000131844 ENSG00000131844 HGNC:6937 MCOLN1 gene MCOLN1 BabySeq Category A gene;Expert Review Red BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal Mucolipidosis IV, MIM# 252650 False 1 0;0;100 1.116 True ENSG00000090674 ENSG00000090674 HGNC:13356 MCPH1 gene MCPH1 BabySeq Category A gene;Expert Review Red BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal Microcephaly 1, primary, autosomal recessive, MIM# 251200 False 1 0;0;100 1.116 True ENSG00000147316 ENSG00000147316 HGNC:6954 MECP2 gene MECP2 BabySeq Category A gene;Expert Review Red 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) MECP2-related disorders Rett syndrome, MIM# 312750 Mental retardation, X-linked, syndromic 13, MIM# 300055 False 1 0;0;100 1.116 True ENSG00000169057 ENSG00000169057 HGNC:6990 MED12 gene MED12 BabySeq Category A gene;Expert Review Red BabyScreen+ newborn screening Screening X-LINKED: hemizygous mutation in males, biallelic mutations in females Ohdo syndrome, X-linked MIM#300895;Lujan-Fryns syndrome MIM#309520;Opitz-Kaveggia syndrome MIM#305450;Hardikar syndrome, MIM# 301068 False 1 0;0;100 1.116 True ENSG00000184634 ENSG00000184634 HGNC:11957 MED13L gene MED13L BabySeq Category C gene;Expert Review Red BabyScreen+ newborn screening Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Transposition of great arteries False 1 0;0;0 1.116 False ENSG00000123066 ENSG00000123066 HGNC:22962 MED20 gene MED20 BabySeq Category C gene;Expert Review Red BabyScreen+ newborn screening Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Congenital heart disease False 1 0;0;0 1.116 False ENSG00000124641 ENSG00000124641 HGNC:16840 MED25 gene MED25 BabySeq Category C gene;Expert Review Red BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal Congenital cataract-microcephaly-naevus flammeus syndrome MONDO:0014643;Basel-Vanagait-Smirin-Yosef syndrome, MIM# 616449 25792360;32816121 False 1 0;0;100 1.116 True ENSG00000104973 ENSG00000104973 HGNC:28845 MEGF10 gene MEGF10 BabySeq Category A gene;Expert Review Red BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal Myopathy, areflexia, respiratory distress, and dysphagia, early-onset, MIM# 614399 False 1 0;0;100 1.116 True ENSG00000145794 ENSG00000145794 HGNC:29634 MESP2 gene MESP2 BabySeq Category C gene;Expert Review Red BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal Spondylocostal dysostosis, autosomal recessive 2 False 1 0;0;0 1.116 False ENSG00000188095 ENSG00000188095 HGNC:29659 MFN2 gene MFN2 BabySeq Category A gene;Expert Review Red BabyScreen+ newborn screening Screening BOTH monoallelic and biallelic, autosomal or pseudoautosomal Charcot-Marie-Tooth disease, axonal, type 2A2A, OMIM #609260;Charcot-Marie-Tooth disease, axonal, type 2A2B, OMIM #617087;Hereditary motor and sensory neuropathy VIA, OMIM #601152 False 1 0;0;100 1.116 True ENSG00000116688 ENSG00000116688 HGNC:16877 MFSD8 gene MFSD8 BabySeq Category A gene;Expert Review Red BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal Ceroid lipofuscinosis, neuronal, 7, MIM# 610951 31597037 False 1 0;0;100 1.116 True ENSG00000164073 ENSG00000164073 HGNC:28486 MGAT2 gene MGAT2 BabySeq Category C gene;Expert Review Red BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal Congenital disorder of glycosylation, type IIa, MIM# 212066;MGAT2-CDG, MONDO:0008908 22105986;31420886;11228641;33044030;8808595 False 1 0;0;100 1.116 True ENSG00000168282 ENSG00000168282 HGNC:7045 MGP gene MGP BabySeq Category A gene;Expert Review Red BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal Keutel syndrome, MIM #245150 False 1 0;0;100 1.116 True ENSG00000111341 ENSG00000111341 HGNC:7060 MIB1 gene MIB1 BabySeq Category C gene;Expert Review Red BabyScreen+ newborn screening Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Left ventricular noncompaction False 1 0;0;0 1.116 False ENSG00000101752 ENSG00000101752 HGNC:21086 MIR96 gene MIR96 BabySeq Category C gene;Expert Review Red BabyScreen+ newborn screening Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Hearing loss False 1 0;0;0 1.116 False ENSG00000199158 ENSG00000199158 HGNC:31648 MKKS gene MKKS BabySeq Category A gene;Expert Review Red BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal Bardet-Biedl syndrome 6 (MIM#605231);McKusick-Kaufman syndrome, MIM# 236700 False 1 0;0;100 1.116 True ENSG00000125863 ENSG00000125863 HGNC:7108 MKS1 gene MKS1 BabySeq Category A gene;Expert Review Red BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal Joubert syndrome 28, MIM# 617121 MONDO:0014928;Meckel syndrome 1, MIM# 249000 MONDO:0009571;Bardet-Biedl syndrome 13, MIM# 615990 MONDO:0014441 False 1 0;0;100 1.116 True ENSG00000011143 ENSG00000011143 HGNC:7121 MLC1 gene MLC1 BabySeq Category A gene;Expert Review Red BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal Megalencephalic leukoencephalopathy with subcortical cysts OMIM#604004 False 1 0;0;100 1.116 True ENSG00000100427 ENSG00000100427 HGNC:17082 MLPH gene MLPH BabySeq Category C gene;Expert Review Red BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal Griscelli syndrome type 3 False 1 0;0;0 1.116 False ENSG00000115648 ENSG00000115648 HGNC:29643 MOCS2 gene MOCS2 BabySeq Category A gene;Expert Review Red BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal Molybdenum cofactor deficiency B, MIM#252160 False 1 0;0;100 1.116 True ENSG00000164172 ENSG00000164172 HGNC:7193 MOGS gene MOGS BabySeq Category C gene;Expert Review Red BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal Glucosidase 1 deficiency False 1 0;0;0 1.116 False ENSG00000115275 ENSG00000115275 HGNC:24862 MPDU1 gene MPDU1 BabySeq Category C gene;Expert Review Red BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal Congenital disorder of glycosylation, type If, MIM# 609180;MPDU1-CDG, MONDO:0012211 11733564;11733556;31741824;29721919 False 1 0;0;100 1.116 True ENSG00000129255 ENSG00000129255 HGNC:7207 MPV17 gene MPV17 BabySeq Category A gene;Expert Review Red BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal Mitochondrial DNA depletion syndrome 6 (hepatocerebral type), MIM# 256810 False 1 0;0;100 1.116 True ENSG00000115204 ENSG00000115204 HGNC:7224 MPZ gene MPZ BabySeq Category A gene;Expert Review Red BabyScreen+ newborn screening Screening BOTH monoallelic and biallelic, autosomal or pseudoautosomal Charcot Marie Tooth disease, dominant intermediate D, 60779;Neuropathy, congenital hypomyelinating, 605253;Charcot Marie Tooth disease, type 2J, 607736;Dejerine Sottas disease, 145900;Charcot Marie Tooth disease, type 1B, 118200;Charcot Marie Tooth disease, type 2I, 607677 False 1 0;0;100 1.116 True ENSG00000158887 ENSG00000158887 HGNC:7225 MPZL2 gene MPZL2 Expert list;Expert Review Red BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal Deafness, autosomal recessive 111 MIM#618145 PMID: 29982980, 29961571, 35734045,33234333 False 1 0;0;100 1.116 True ENSG00000149573 ENSG00000149573 HGNC:3496 MRPS16 gene MRPS16 BabySeq Category C gene;Expert Review Red BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal Mitochondrial respiratory chain disorder False 1 0;0;0 1.116 False ENSG00000182180 ENSG00000182180 HGNC:14048 MRPS22 gene MRPS22 BabySeq Category C gene;Expert Review Red BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal Mitochondrial respiratory chain disorder False 1 0;0;0 1.116 False ENSG00000175110 ENSG00000175110 HGNC:14508 MSRB3 gene MSRB3 BabySeq Category C gene;Expert Review Red BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal Deafness, autosomal recessive False 1 0;0;0 1.116 False ENSG00000174099 ENSG00000174099 HGNC:27375 MSX2 gene MSX2 BabySeq Category A gene;Expert Review Red BabyScreen+ newborn screening Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Craniosynostosis 2 (MIM#604757);Parietal foramina 1 (MIM#168500);Parietal foramina with cleidocranial dysplasia (MIM#168550) False 1 0;0;100 1.116 True ENSG00000120149 ENSG00000120149 HGNC:7392 MTHFR gene MTHFR BabySeq Category B gene;Expert Review Red BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal Homocystinuria due to MTHFR deficiency MIM#236250 34214447 False 1 0;0;100 1.116 True ENSG00000177000 ENSG00000177000 HGNC:7436 MTHFS gene MTHFS Expert list;Expert Review Red BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal Neurodevelopmental disorder with microcephaly, epilepsy, and hypomyelination, 618367 30031689;31844630;22303332 False 1 0;0;100 1.116 True ENSG00000136371 ENSG00000136371 HGNC:7437 MTM1 gene MTM1 BabySeq Category A gene;Expert Review Red BabyScreen+ newborn screening Screening X-LINKED: hemizygous mutation in males, biallelic mutations in females Myopathy, centronuclear, X-linked, MIM# 310400 False 1 0;0;100 1.116 True ENSG00000171100 ENSG00000171100 HGNC:7448 MT-ND1 gene MT-ND1 BabySeq Category C gene;Expert Review Red BabyScreen+ newborn screening Screening MITOCHONDRIAL Leber hereditary optic neuropathy False 1 0;0;0 1.116 False ENSG00000198888 ENSG00000198888 HGNC:7455 MT-ND4 gene MT-ND4 BabySeq Category C gene;Expert Review Red BabyScreen+ newborn screening Screening MITOCHONDRIAL Leber hereditary optic neuropathy False 1 0;0;0 1.116 False ENSG00000198886 ENSG00000198886 HGNC:7459 MT-ND6 gene MT-ND6 BabySeq Category C gene;Expert Review Red BabyScreen+ newborn screening Screening MITOCHONDRIAL Leber hereditary optic neuropathy False 1 0;0;0 1.116 False ENSG00000198695 ENSG00000198695 HGNC:7462 MTO1 gene MTO1 BabySeq Category C gene;Expert Review Red BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal Hypertrophic cardiomyopathy & lactic acidosis False 1 0;0;0 1.116 False ENSG00000135297 ENSG00000135297 HGNC:19261 MUC5B gene MUC5B BabySeq Category C gene;Expert Review Red BabyScreen+ newborn screening Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Pulmonary fibrosis, idiopathic False 1 0;0;0 1.116 False ENSG00000117983 ENSG00000117983 HGNC:7516 MUTYH gene MUTYH BabySeq Category A gene;Expert Review Red BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal Adenomas, multiple colorectal, MIM# 608456 False 1 0;0;100 1.116 True ENSG00000132781 ENSG00000132781 HGNC:7527 MYBPC1 gene MYBPC1 BabySeq Category C gene;Expert Review Red BabyScreen+ newborn screening Screening BOTH monoallelic and biallelic, autosomal or pseudoautosomal Myopathy, congenital, with tremor MIM#618524;Lethal congenital contracture syndrome 4, MIM# 614915;Arthrogryposis, distal, type 1B 614335 23873045;20045868;22610851;26661508;31025394;31264822 False 1 0;0;100 1.116 True ENSG00000196091 ENSG00000196091 HGNC:7549 MYBPC3 gene MYBPC3 BabySeq Category B gene;BabySeq Category C gene;Expert Review Red BabyScreen+ newborn screening Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Cardiomyopathy, familial hypertrophic;Cardiomyopathy, dilated False 1 0;0;0 1.116 False ENSG00000134571 ENSG00000134571 HGNC:7551 MYCN gene MYCN BabySeq Category A gene;Expert Review Red BabyScreen+ newborn screening Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Feingold syndrome 1, MIM# 164280 False 1 0;0;100 1.116 True ENSG00000134323 ENSG00000134323 HGNC:7559 MYH14 gene MYH14 BabySeq Category A gene;Expert Review Red BabyScreen+ newborn screening Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Deafness, autosomal dominant 4A, MIM# 600652;Peripheral neuropathy, myopathy, hoarseness, and hearing loss 614369 34681017 False 1 0;0;100 1.116 True ENSG00000105357 ENSG00000105357 HGNC:23212 MYH2 gene MYH2 BabySeq Category A gene;Expert Review Red BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal Proximal myopathy and ophthalmoplegia, MIM# 605637 False 1 0;0;100 1.116 True ENSG00000125414 ENSG00000125414 HGNC:7572 MYH3 gene MYH3 BabySeq Category A gene;Expert Review Red BabyScreen+ newborn screening Screening BOTH monoallelic and biallelic, autosomal or pseudoautosomal Arthrogryposis, distal, type 2A (Freeman-Sheldon) 193700;Arthrogryposis, distal, type 2B3 (Sheldon-Hall) 618436;Contractures, pterygia, and spondylocarpostarsal fusion syndrome 1A 178110;Contractures, pterygia, and spondylocarpotarsal fusion syndrome 1B 618469 False 1 0;0;100 1.116 True ENSG00000109063 ENSG00000109063 HGNC:7573 MYH6 gene MYH6 BabySeq Category C gene;Expert Review Red BabyScreen+ newborn screening Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Cardiomyopathy, dilated;Cardiomyopathy, familial hypertrophic;Atrial septal defect False 1 0;0;0 1.116 False ENSG00000197616 ENSG00000197616 HGNC:7576 MYH9 gene MYH9 BabySeq Category A gene;Expert Review Red BabyScreen+ newborn screening Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Deafness, autosomal dominant 17, MIM# 603622;Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss, MIM# 155100 False 1 0;0;100 1.116 True ENSG00000100345 ENSG00000100345 HGNC:7579 MYLK2 gene MYLK2 BabySeq Category C gene;Expert Review Red BabyScreen+ newborn screening Screening Unknown Cardiomyopathy, hypertrophic False 1 0;0;0 1.116 False ENSG00000101306 ENSG00000101306 HGNC:16243 MYO1C gene MYO1C BabySeq Category C gene;Expert Review Red BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal Sensorineural hearing loss False 1 0;0;0 1.116 False ENSG00000197879 ENSG00000197879 HGNC:7597 MYO1E gene MYO1E BabySeq Category C gene;Expert Review Red BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal Focal segmental glomerulosclerosis False 1 0;0;0 1.116 False ENSG00000157483 ENSG00000157483 HGNC:7599 MYO1F gene MYO1F BabySeq Category C gene;Expert Review Red BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal Sensorineural hearing loss False 1 0;0;0 1.116 False ENSG00000142347 ENSG00000142347 HGNC:7600 MYO5A gene MYO5A BabySeq Category C gene;Expert Review Red BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal Griscelli syndrome False 1 0;0;0 1.116 False ENSG00000197535 ENSG00000197535 HGNC:7602 MYO9A gene MYO9A BeginNGS;Expert Review Red BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal "Myasthenic syndrome, congenital, 24, presynaptic, MIM# 618198" False 1 50;0;50 1.116 True ENSG00000066933 ENSG00000066933 HGNC:7608 MYOM1 gene MYOM1 BabySeq Category C gene;Expert Review Red BabyScreen+ newborn screening Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Cardiomyopathy, hypertrophic False 1 0;0;0 1.116 False ENSG00000101605 ENSG00000101605 HGNC:7613 MYOT gene MYOT BabySeq Category C gene;Expert Review Red BabyScreen+ newborn screening Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Myofibrillar myopathy False 1 0;0;0 1.116 False ENSG00000120729 ENSG00000120729 HGNC:12399 MYOZ2 gene MYOZ2 BabySeq Category C gene;Expert Review Red BabyScreen+ newborn screening Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Cardiomyopathy, hypertrophic False 1 0;0;0 1.116 False ENSG00000172399 ENSG00000172399 HGNC:1330 MYPN gene MYPN BabySeq Category C gene;Expert Review Red BabyScreen+ newborn screening Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Cardiomyopathy, hypertrophic;Cardiomyopathy, dilated False 1 0;0;0 1.116 False ENSG00000138347 ENSG00000138347 HGNC:23246 NAA10 gene NAA10 BabySeq Category C gene;Expert Review Red BabyScreen+ newborn screening Screening X-LINKED: hemizygous mutation in males, biallelic mutations in females N-terminal acetyltransferase deficiency False 1 0;0;0 1.116 False ENSG00000102030 ENSG00000102030 HGNC:18704 NAA15 gene NAA15 BabySeq Category C gene;Expert Review Red BabyScreen+ newborn screening Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Congenital heart disease False 1 0;0;0 1.116 False ENSG00000164134 ENSG00000164134 HGNC:30782 NAGA gene NAGA BabySeq Category A gene;Expert Review Red BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal Kanzaki disease, MIM# 609242 False 1 0;0;100 1.116 True ENSG00000198951 ENSG00000198951 HGNC:7631 NAXE gene NAXE Expert list;Expert Review Red BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal Encephalopathy, progressive, early-onset, with brain oedema and/or leukoencephalopathy, MIM# 617186 27122014;27616477;31758406 False 1 0;0;100 1.116 True ENSG00000163382 ENSG00000163382 HGNC:18453 NBN gene NBN BabySeq Category A gene;BeginNGS;Expert Review Red BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal Nijmegen breakage syndrome, MIM#251260 False 1 0;0;100 1.116 True ENSG00000104320 ENSG00000104320 HGNC:7652 NDP gene NDP BabySeq Category A gene;Expert Review Red BabyScreen+ newborn screening Screening X-LINKED: hemizygous mutation in males, biallelic mutations in females Norrie disease, MIM# 310600 False 1 50;0;50 1.116 True ENSG00000124479 ENSG00000124479 HGNC:7678 NEB gene NEB BabySeq Category A gene;Expert Review Red BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal Nemaline myopathy 2, autosomal recessive 256030;Arthrogryposis multiplex congenita 6, MIM# 619334 False 1 0;0;100 1.116 True ENSG00000183091 ENSG00000183091 HGNC:7720 NEBL gene NEBL BabySeq Category C gene;Expert Review Red BabyScreen+ newborn screening Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Cardiomyopathy, dilated False 1 0;0;0 1.116 False ENSG00000078114 ENSG00000078114 HGNC:16932 NECTIN1 gene NECTIN1 BabySeq Category C gene;Expert Review Red BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal Cleft lip / palate False 1 0;0;0 1.116 False ENSG00000110400 ENSG00000110400 HGNC:9706 NEDD4L gene NEDD4L BabySeq Category C gene;Expert Review Red BabyScreen+ newborn screening Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Epilepsy, photosensitive generalised False 1 0;0;0 1.116 False ENSG00000049759 ENSG00000049759 HGNC:7728 NEFL gene NEFL BabySeq Category A gene;Expert Review Red BabyScreen+ newborn screening Screening BOTH monoallelic and biallelic, autosomal or pseudoautosomal Charcot-Marie-Tooth disease, dominant intermediate G, MIM# 617882;Charcot-Marie-Tooth disease, type 1F, MIM# 607734;Charcot-Marie-Tooth disease, type 2E 607684 False 1 0;0;100 1.116 True ENSG00000104725 ENSG00000277586 HGNC:7739 NEK1 gene NEK1 BabySeq Category C gene;Expert Review Red BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal Short-rib thoracic dysplasia 6 with or without polydactyly, MIM# 263520 22499340;21211617;28123176;25492405 False 1 0;0;100 1.116 True ENSG00000137601 ENSG00000137601 HGNC:7744 NEK8 gene NEK8 BabySeq Category C gene;Expert Review Red BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal MONDO:0014174;Renal-hepatic-pancreatic dysplasia 2, MIM# 615415 26967905;33131162;26697755;23274954;26862157;31633649;23418306 False 1 0;0;100 1.116 True ENSG00000160602 ENSG00000160602 HGNC:13387 NEU1 gene NEU1 BabySeq Category A gene;Expert Review Red BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal Sialidosis, type I and type II, MIM# 256550 False 1 0;0;100 1.116 True ENSG00000204386 ENSG00000204386 HGNC:7758 NEXN gene NEXN BabySeq Category C gene;Expert Review Red BabyScreen+ newborn screening Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Cardiomyopathy, familial hypertrophic;Cardiomyopathy, dilated False 1 0;0;0 1.116 False ENSG00000162614 ENSG00000162614 HGNC:29557 NF1 gene NF1 BabySeq Category A gene;Expert Review Red BabyScreen+ newborn screening Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Neurofibromatosis, type 1, MIM# 162200 31010905 False 1 50;0;50 1.116 True ENSG00000196712 ENSG00000196712 HGNC:7765 NF2 gene NF2 BabySeq Category A gene;Expert Review Red BabyScreen+ newborn screening Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Neurofibromatosis, type 2 (MIM# 101000) False 1 0;0;100 1.116 True ENSG00000186575 ENSG00000186575 HGNC:7773 NFATC1 gene NFATC1 BabySeq Category C gene;Expert Review Red BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal Congenital heart disease False 1 0;0;0 1.116 False ENSG00000131196 ENSG00000131196 HGNC:7775 NGLY1 gene NGLY1 BabySeq Category A gene;Expert Review Red BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal Congenital disorder of deglycosylation, MIM# 615273 False 1 0;0;100 1.116 True ENSG00000151092 ENSG00000151092 HGNC:17646 NHLRC1 gene NHLRC1 BabySeq Category A gene;Expert Review Red BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal Epilepsy, progressive myoclonic 2B (Lafora), MIM# 254780 False 1 0;0;100 1.116 True ENSG00000187566 ENSG00000187566 HGNC:21576 NHP2 gene NHP2 BabySeq Category C gene;Expert Review Red BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal Dyskeratosis congenita False 1 0;0;0 1.116 False ENSG00000145912 ENSG00000145912 HGNC:14377 NIN gene NIN BabySeq Category C gene;Expert Review Red BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal Seckel syndrome False 1 0;0;0 1.116 False ENSG00000100503 ENSG00000100503 HGNC:14906 NIPBL gene NIPBL BabySeq Category A gene;Expert Review Red BabyScreen+ newborn screening Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Cornelia de Lange syndrome 1, MIM# 122470 False 1 0;0;100 1.116 True ENSG00000164190 ENSG00000164190 HGNC:28862 NKX3-2 gene NKX3-2 BabySeq Category C gene;Expert Review Red BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal Spondylo-megaepiphyseal-metaphyseal dysplasia False 1 0;0;0 1.116 False ENSG00000109705 ENSG00000109705 HGNC:951 NLGN3 gene NLGN3 BabySeq Category C gene;Expert Review Red BabyScreen+ newborn screening Screening Unknown Autism False 1 0;0;0 1.116 False ENSG00000196338 ENSG00000196338 HGNC:14289 NLGN4X gene NLGN4X BabySeq Category C gene;Expert Review Red BabyScreen+ newborn screening Screening X-LINKED: hemizygous mutation in males, biallelic mutations in females Intellectual developmental disorder, X-linked MIM#300495 False 1 0;0;100 1.116 True ENSG00000146938 ENSG00000146938 HGNC:14287 NLRP7 gene NLRP7 BabySeq Category C gene;Expert Review Red BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal Hydatidiform mole False 1 0;0;0 1.116 False ENSG00000167634 ENSG00000167634 HGNC:22947 NME8 gene NME8 BabySeq Category C gene;Expert Review Red BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal Ciliary dyskinesia, primary False 1 0;0;0 1.116 False ENSG00000086288 ENSG00000086288 HGNC:16473 NOG gene NOG BabySeq Category A gene;Expert Review Red BabyScreen+ newborn screening Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Brachydactyly, type B2 - MIM#611377;Multiple synostoses syndrome 1 (MIM#186500);Stapes ankylosis with broad thumbs and toes (MIM#184460);Symphalangism, proximal, 1A (MIM#185800);Tarsal-carpal coalition syndrome (MIM#186570) False 1 0;0;100 1.116 True ENSG00000183691 ENSG00000183691 HGNC:7866 NOP10 gene NOP10 BabySeq Category C gene;Expert Review Red BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal Dyskeratosis congenita False 1 0;0;0 1.116 False ENSG00000182117 ENSG00000182117 HGNC:14378 NOTCH1 gene NOTCH1 BabySeq Category C gene;Expert Review Red BabyScreen+ newborn screening Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Aortic valve disease False 1 0;0;0 1.116 False ENSG00000148400 ENSG00000148400 HGNC:7881 NOTCH2 gene NOTCH2 BabySeq Category A gene;Expert Review Red BabyScreen+ newborn screening Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Alagille syndrome 2 (MIM#610205);Hajdu-Cheney syndrome (MIM#102500) False 1 0;0;100 1.116 True ENSG00000134250 ENSG00000134250 HGNC:7882 NOTCH3 gene NOTCH3 BabySeq Category A gene;Expert Review Red BabyScreen+ newborn screening Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Cerebral arteriopathy with subcortical infarcts and leukoencephalopathy 1, MIM# 125310 False 1 0;0;100 1.116 True ENSG00000074181 ENSG00000074181 HGNC:7883 NPHP1 gene NPHP1 BabySeq Category A gene;Expert Review Red BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal Joubert syndrome 4, MIM# 609583;Nephronophthisis 1, juvenile, MIM# 256100;Senior-Loken syndrome-1, MIM# 266900 False 1 0;0;100 1.116 True ENSG00000144061 ENSG00000144061 HGNC:7905 NPHP3 gene NPHP3 BabySeq Category A gene;Expert Review Red BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal Renal-hepatic-pancreatic dysplasia 1, MIM# 208540 False 1 0;0;100 1.116 True ENSG00000113971 ENSG00000113971 HGNC:7907 NPHP4 gene NPHP4 BabySeq Category A gene;Expert Review Red BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal Nephronophthisis 4, MIM# 606966 Senior-Loken syndrome 4, MIM# 606996 False 1 0;0;100 1.116 True ENSG00000131697 ENSG00000131697 HGNC:19104 NPHS1 gene NPHS1 BabySeq Category A gene;Expert Review Red BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal Nephrotic syndrome, type 1, MIM# 256300 False 1 0;0;100 1.116 True ENSG00000161270 ENSG00000161270 HGNC:7908 NPPA gene NPPA BabySeq Category C gene;Expert Review Red BabyScreen+ newborn screening Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Atrial fibrillation False 1 0;0;0 1.116 False ENSG00000175206 ENSG00000175206 HGNC:7939 NR1H4 gene NR1H4 BabySeq Category C gene;Expert Review Red BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal Cholestasis, infantile False 1 0;0;0 1.116 False ENSG00000012504 ENSG00000012504 HGNC:7967 NRG1 gene NRG1 BabySeq Category C gene;Expert Review Red BabyScreen+ newborn screening Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Hirschsprung disease False 1 0;0;0 1.116 False ENSG00000157168 ENSG00000157168 HGNC:7997 NRXN1 gene NRXN1 BabySeq Category C gene;Expert Review Red BabyScreen+ newborn screening Screening Unknown Autism False 1 0;0;0 1.116 False ENSG00000179915 ENSG00000179915 HGNC:8008 NSD1 gene NSD1 BabySeq Category A gene;Expert Review Red BabyScreen+ newborn screening Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Sotos syndrome 1, MIM# 117550 False 1 0;0;100 1.116 True ENSG00000165671 ENSG00000165671 HGNC:14234 NSDHL gene NSDHL BabySeq Category A gene;BabySeq Category C gene;Expert Review Red BabyScreen+ newborn screening Screening X-LINKED: hemizygous mutation in males, biallelic mutations in females CK syndrome;CHILD syndrome False 1 0;0;0 1.116 False ENSG00000147383 ENSG00000147383 HGNC:13398 NTRK1 gene NTRK1 BabySeq Category A gene;BabySeq Category C gene;Expert Review Red BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal Congenital insensitivity to pain with anhidrosis MIM#256800 False 1 0;0;100 1.116 True ENSG00000198400 ENSG00000198400 HGNC:8031 NUB1 gene NUB1 BabySeq Category C gene;Expert Review Red BabyScreen+ newborn screening Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Congenital heart disease False 1 0;0;0 1.116 False ENSG00000013374 ENSG00000013374 HGNC:17623 NUP155 gene NUP155 BabySeq Category C gene;Expert Review Red BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal Atrial fibrillation False 1 0;0;0 1.116 False ENSG00000113569 ENSG00000113569 HGNC:8063 NUP62 gene NUP62 BabySeq Category C gene;Expert Review Red BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal Striatonigral degeneration, infantile False 1 0;0;0 1.116 False ENSG00000213024 ENSG00000213024 HGNC:8066 OBSL1 gene OBSL1 BabySeq Category A gene;Expert Review Red BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal 3-M syndrome 2, MIM #612921 False 1 0;0;100 1.116 True ENSG00000124006 ENSG00000124006 HGNC:29092 OCA2 gene OCA2 BabySeq Category A gene;Expert Review Red BabyScreen+ newborn screening Screening BOTH monoallelic and biallelic, autosomal or pseudoautosomal Albinism, brown oculocutaneous, MIM# 203200;Albinism, oculocutaneous, type II, MIM# 203200 False 1 0;0;100 1.116 True ENSG00000104044 ENSG00000104044 HGNC:8101 OCRL gene OCRL BabySeq Category A gene;Expert Review Red BabyScreen+ newborn screening Screening X-LINKED: hemizygous mutation in males, biallelic mutations in females Dent disease 2, MIM# 300555;Lowe syndrome , MIM#309000 False 1 0;0;100 1.116 True ENSG00000122126 ENSG00000122126 HGNC:8108 OFD1 gene OFD1 BabySeq Category A gene;Expert Review Red BabyScreen+ newborn screening Screening X-LINKED: hemizygous mutation in males, biallelic mutations in females Retinitis pigmentosa 23, MIM# 300424;Joubert syndrome 10, MIM# 300804;Orofaciodigital syndrome I, MIM# 311200 False 1 0;0;100 1.116 True ENSG00000046651 ENSG00000046651 HGNC:2567 OPA1 gene OPA1 BabySeq Category A gene;Expert Review Red BabyScreen+ newborn screening Screening BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal Mitochondrial DNA depletion syndrome 14 (encephalocardiomyopathic type)MIM# 616896;Behr syndrome MIM#210000, AR;Optic atrophy 1, MIM#165500;Optic atrophy plus syndrome, MIM# 125250 False 1 0;0;100 1.116 True ENSG00000198836 ENSG00000198836 HGNC:8140 OPA3 gene OPA3 BabySeq Category A gene;BabySeq Category C gene;Expert Review Red BabyScreen+ newborn screening Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Optic atrophy 3 with cataract;3-methylglutaconic aciduria, type III False 1 0;0;0 1.116 False ENSG00000125741 ENSG00000125741 HGNC:8142 ORC1 gene ORC1 BabySeq Category A gene;Expert Review Red BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal Meier-Gorlin syndrome 1, MIM# 224690 False 1 0;0;100 1.116 True ENSG00000085840 ENSG00000085840 HGNC:8487 ORC4 gene ORC4 BabySeq Category C gene;Expert Review Red BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal Meier-Gorlin syndrome False 1 0;0;0 1.116 False ENSG00000115947 ENSG00000115947 HGNC:8490 ORC6 gene ORC6 BabySeq Category C gene;Expert Review Red BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal Meier-Gorlin syndrome False 1 0;0;0 1.116 False ENSG00000091651 ENSG00000091651 HGNC:17151 OSMR gene OSMR BabySeq Category A gene;Expert Review Red BabyScreen+ newborn screening Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Amyloidosis, primary localized cutaneous, 1 - MIM#105250 False 1 0;0;100 1.116 True ENSG00000145623 ENSG00000145623 HGNC:8507 OSTM1 gene OSTM1 BabySeq Category A gene;Expert Review Red BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal Osteopetrosis, autosomal recessive 5, MIM#259720 34011644 False 1 0;0;100 1.116 True ENSG00000081087 ENSG00000081087 HGNC:21652 OTUD4 gene OTUD4 BabySeq Category C gene;Expert Review Red BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal Hypogonadotropic hypogonadism, ataxia & dementia False 1 0;0;0 1.116 False ENSG00000164164 ENSG00000164164 HGNC:24949 P2RX2 gene P2RX2 BabySeq Category C gene;Expert Review Red BabyScreen+ newborn screening Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Hearing loss False 1 0;0;0 1.116 False ENSG00000187848 ENSG00000187848 HGNC:15459 P2RY12 gene P2RY12 Expert list;Expert Review Red BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal Bleeding disorder, platelet-type, 8, MIM# 609821;MONDO:0012354 29117459;11196645;19237732;12578987 False 1 0;0;100 1.116 True ENSG00000169313 ENSG00000169313 HGNC:18124 PABPN1 gene PABPN1 BabySeq Category C gene;Expert Review Red BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal Oculopharyngeal muscular dystrophy False 1 0;0;0 1.116 False ENSG00000100836 ENSG00000100836 HGNC:8565 PAK3 gene PAK3 BabySeq Category A gene;Expert Review Red BabyScreen+ newborn screening Screening X-LINKED: hemizygous mutation in males, biallelic mutations in females Mental retardation syndrome, X-linked 30, MIM#300558 False 1 0;0;100 1.116 True ENSG00000077264 ENSG00000077264 HGNC:8592 PANK2 gene PANK2 BabySeq Category A gene;Expert Review Red BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal Neurodegeneration with brain iron accumulation 1 (aka Hallervorden-Spatz disease), OMIM 234200 False 1 0;0;100 1.116 True ENSG00000125779 ENSG00000125779 HGNC:15894 PAX5 gene PAX5 Expert list;Expert Review Red BabyScreen+ newborn screening Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted {Leukemia, acute lymphoblastic, susceptibility to, 3} MIM#615545 PMID: 24013638 False 1 0;0;100 1.116 True ENSG00000196092 ENSG00000196092 HGNC:8619 PAX6 gene PAX6 BabySeq Category A gene;Expert Review Red BabyScreen+ newborn screening Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Aniridia, OMIM 106210 False 1 0;50;50 1.116 True ENSG00000007372 ENSG00000007372 HGNC:8620 PCNT gene PCNT BabySeq Category A gene;Expert Review Red BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal Microcephalic osteodysplastic primordial dwarfism, type II, 210720 False 1 0;0;100 1.116 True ENSG00000160299 ENSG00000160299 HGNC:16068 PDE11A gene PDE11A BabySeq Category C gene;Expert Review Red BabyScreen+ newborn screening Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Adrenocortical hyperplasia False 1 0;0;0 1.116 False ENSG00000128655 ENSG00000128655 HGNC:8773 PDE4D gene PDE4D BabySeq Category A gene;Expert Review Red BabyScreen+ newborn screening Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Acrodysostosis 2, with or without hormone resistance, MIM#614613 False 1 0;0;100 1.116 True ENSG00000113448 ENSG00000113448 HGNC:8783 PDLIM3 gene PDLIM3 BabySeq Category C gene;Expert Review Red BabyScreen+ newborn screening Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Cardiomyopathy, dilated False 1 0;0;0 1.116 False ENSG00000154553 ENSG00000154553 HGNC:20767 PDSS1 gene PDSS1 BabySeq Category C gene;BeginNGS;Expert Review Red BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal "Coenzyme Q10 deficiency, primary, 2, MIM# 614651;Deafness - encephaloneuropathy - obesity - valvulopathy Neonatal" False 1 0;0;0 1.116 False ENSG00000148459 ENSG00000148459 HGNC:17759 PDSS2 gene PDSS2 BabySeq Category C gene;BeginNGS;Expert Review Red BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal "Coenzyme Q10 deficiency, primary, 3, MIM# 614652;Leigh syndrome with nephropathy and COQ10 deficiency" False 1 0;0;0 1.116 False ENSG00000164494 ENSG00000164494 HGNC:23041 PEX1 gene PEX1 BabySeq Category A gene;Expert Review Red BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal "Peroxisome biogenesis disorder 1A (Zellweger), MIM# 214100" False 1 0;0;100 1.116 True ENSG00000127980 ENSG00000127980 HGNC:8850 PEX10 gene PEX10 BabySeq Category A gene;Expert Review Red BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal Peroxisome biogenesis disorder 6A (Zellweger) (MIM#614870) False 1 0;0;100 1.116 True ENSG00000157911 ENSG00000157911 HGNC:8851 PEX11B gene PEX11B BabySeq Category C gene;Expert Review Red BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal Peroxisome biogenesis disorder False 1 0;0;0 1.116 False ENSG00000131779 ENSG00000131779 HGNC:8853 PEX12 gene PEX12 BabySeq Category A gene;Expert Review Red BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal Peroxisome biogenesis disorder 3A (Zellweger) (MIM#614859) False 1 0;0;100 1.116 True ENSG00000108733 ENSG00000108733 HGNC:8854 PEX13 gene PEX13 BabySeq Category A gene;Expert Review Red BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal Peroxisome biogenesis disorder 11A (Zellweger) (MIM#614883) False 1 0;0;100 1.116 True ENSG00000162928 ENSG00000162928 HGNC:8855 PEX14 gene PEX14 BabySeq Category C gene;Expert Review Red BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal Zellweger syndrome False 1 0;0;0 1.116 False ENSG00000142655 ENSG00000142655 HGNC:8856 PEX16 gene PEX16 BabySeq Category C gene;Expert Review Red BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal Zellweger syndrome False 1 0;0;0 1.116 False ENSG00000121680 ENSG00000121680 HGNC:8857 PEX19 gene PEX19 BabySeq Category C gene;Expert Review Red BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal Zellweger syndrome False 1 0;0;0 1.116 False ENSG00000162735 ENSG00000162735 HGNC:9713 PEX2 gene PEX2 BabySeq Category A gene;Expert Review Red BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal Peroxisome biogenesis disorder 5A (Zellweger) MIM#614866 False 1 0;0;100 1.116 True ENSG00000164751 ENSG00000164751 HGNC:9717 PEX26 gene PEX26 BabySeq Category A gene;Expert Review Red BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal Peroxisome biogenesis disorder 7A (Zellweger) MIM#614872 False 1 0;0;100 1.116 True ENSG00000215193 ENSG00000215193 HGNC:22965 PEX3 gene PEX3 BabySeq Category A gene;Expert Review Red BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal Peroxisome biogenesis disorder 10A (Zellweger) 614882 False 1 0;0;100 1.116 True ENSG00000034693 ENSG00000034693 HGNC:8858 PEX5 gene PEX5 BabySeq Category A gene;Expert Review Red BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal Peroxisome biogenesis disorder 10A (Zellweger) 614882 False 1 0;0;100 1.116 True ENSG00000139197 ENSG00000139197 HGNC:9719 PEX6 gene PEX6 BabySeq Category A gene;Expert Review Red BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal Peroxisome biogenesis disorder 4A (Zellweger) (MIM#614862) False 1 0;0;100 1.116 True ENSG00000124587 ENSG00000124587 HGNC:8859 PEX7 gene PEX7 BabySeq Category A gene;Expert Review Red BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal Peroxisome biogenesis disorder 9B, MIM# 614879;Rhizomelic chondrodysplasia punctata, type 1, MIM# 215100 False 1 0;0;100 1.116 True ENSG00000112357 ENSG00000112357 HGNC:8860 PFKM gene PFKM BabySeq Category A gene;Expert Review Red BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal Glycogen storage disease VII (MIM#232800) 7550225 False 1 0;0;100 1.116 True ENSG00000152556 ENSG00000152556 HGNC:8877 PHF6 gene PHF6 BabySeq Category A gene;Expert Review Red BabyScreen+ newborn screening Screening X-LINKED: hemizygous mutation in males, biallelic mutations in females Borjeson-Forssman-Lehmann syndrome, MIM# 301900 False 1 0;0;100 1.116 True ENSG00000156531 ENSG00000156531 HGNC:18145 PHKA1 gene PHKA1 BabySeq Category C gene;Expert Review Red BabyScreen+ newborn screening Screening X-LINKED: hemizygous mutation in males, biallelic mutations in females Phosphorylase kinase deficiency False 1 0;0;0 1.116 False ENSG00000067177 ENSG00000067177 HGNC:8925 PHOX2A gene PHOX2A BabySeq Category C gene;Expert Review Red BabyScreen+ newborn screening Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Fibrosis of extraocular muscles, congenital False 1 0;0;0 1.116 False ENSG00000165462 ENSG00000165462 HGNC:691 PHOX2B gene PHOX2B BabySeq Category B gene;Expert Review Red BabyScreen+ newborn screening Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Central hypoventilation syndrome, congenital, 1, with or without Hirschsprung disease, MIM# 209880 False 1 0;0;100 1.116 True ENSG00000109132 ENSG00000109132 HGNC:9143 PHYH gene PHYH BabySeq Category A gene;Expert Review Red BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal Refsum disease, MIM# 266500 False 1 0;0;100 1.116 True ENSG00000107537 ENSG00000107537 HGNC:8940 PIEZO2 gene PIEZO2 BabySeq Category A gene;Expert Review Red BabyScreen+ newborn screening Screening BOTH monoallelic and biallelic, autosomal or pseudoautosomal Marden-Walker syndrome (MIM#248700);Arthrogryposis, distal, type 3 (MIM#114300);Arthrogryposis, distal, type 5 (MIM#108145);Arthrogryposis, distal, with impaired proprioception and touch, MIM# 617146 False 1 0;0;100 1.116 True ENSG00000154864 ENSG00000154864 HGNC:26270 PIGA gene PIGA BabySeq Category C gene;Expert Review Red BabyScreen+ newborn screening Screening X-LINKED: hemizygous mutation in males, biallelic mutations in females Multiple congenital anomalies-hypotonia-seizures syndrome 2, MIM# 300868, MONDO:0010466 32694024;24706016;26545172;24357517;33333793;22305531 False 1 0;50;50 1.116 True ENSG00000165195 ENSG00000165195 HGNC:8957 PIK3CA gene PIK3CA Expert list;Expert Review Red BabyScreen+ newborn screening Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted PIK3CA related overgrowth spectrum 33392635;33639990 False 1 0;0;100 1.116 True ENSG00000121879 ENSG00000121879 HGNC:8975 PINK1 gene PINK1 BabySeq Category A gene;Expert Review Red BabyScreen+ newborn screening Screening BOTH monoallelic and biallelic, autosomal or pseudoautosomal Parkinson disease 6, early onset, MIM#605909 False 1 0;0;100 1.116 True ENSG00000158828 ENSG00000158828 HGNC:14581 PKHD1 gene PKHD1 BabySeq Category A gene;Expert Review Red BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal Polycystic kidney disease 4, with or without hepatic disease, MIM# 263200 False 1 0;0;100 1.116 True ENSG00000170927 ENSG00000170927 HGNC:9016 PLA2G6 gene PLA2G6 BabySeq Category A gene;Expert Review Red BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal Infantile neuroaxonal dystrophy 1 MIM#256600;Neurodegeneration with brain iron accumulation 2B MIM#610217;Parkinson disease 14, autosomal recessive MIM#612953 False 1 0;0;100 1.116 True ENSG00000184381 ENSG00000184381 HGNC:9039 PLCE1 gene PLCE1 BabySeq Category A gene;Expert Review Red BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal Nephrotic syndrome, type 3, MIM# 610725 False 1 0;0;100 1.116 True ENSG00000138193 ENSG00000138193 HGNC:17175 PLEC gene PLEC BabySeq Category A gene;Expert Review Red BabyScreen+ newborn screening Screening BOTH monoallelic and biallelic, autosomal or pseudoautosomal Epidermolysis bullosa simplex with muscular dystrophy, MIM# 226670;Epidermolysis bullosa simplex with pyloric atresia, MIM# 612138;Epidermolysis bullosa simplex, Ogna type MIM#131950;Muscular dystrophy, limb-girdle, autosomal recessive 17, MIM# 613723 False 1 0;0;100 1.116 True ENSG00000178209 ENSG00000178209 HGNC:9069 PLN gene PLN BabySeq Category B gene;BabySeq Category C gene;Expert Review Red BabyScreen+ newborn screening Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Cardiomyopathy, familial hypertrophic;Cardiomyopathy, dilated False 1 0;0;0 1.116 False ENSG00000198523 ENSG00000198523 HGNC:9080 PLOD1 gene PLOD1 BabySeq Category A gene;Expert Review Red BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal Ehlers-Danlos syndrome, kyphoscoliotic type, MIM# 225400 False 1 0;0;100 1.116 True ENSG00000083444 ENSG00000083444 HGNC:9081 PLOD2 gene PLOD2 BabySeq Category C gene;Expert Review Red BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal Bruck syndrome 2, MIM# 609220 False 1 0;0;100 1.116 True ENSG00000152952 ENSG00000152952 HGNC:9082 PLP1 gene PLP1 BabySeq Category A gene;Expert Review Red BabyScreen+ newborn screening Screening X-LINKED: hemizygous mutation in males, biallelic mutations in females Pelizaeus-Merzbacher disease MIM#312080;Spastic paraplegia 2, X-linked MIM#312920 False 1 0;0;100 1.116 True ENSG00000123560 ENSG00000123560 HGNC:9086 PMM2 gene PMM2 BabySeq Category A gene;Expert Review Red BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal Congenital disorder of glycosylation, type Ia, MIM# 212065 30740725;31636082 False 1 0;0;100 1.116 True ENSG00000140650 ENSG00000140650 HGNC:9115 PMP22 gene PMP22 BabySeq Category A gene;Expert Review Red BabyScreen+ newborn screening Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Charcot-Marie-Tooth disease, type 1A, MIM# 118220;Charcot-Marie-Tooth disease, type 1E, MIM# 118300;Dejerine-Sottas disease, MIM# 145900;Neuropathy, recurrent, with pressure palsies 162500;Roussy-Levy syndrome 180800 False 1 0;0;100 1.116 True ENSG00000109099 ENSG00000109099 HGNC:9118 PNKD gene PNKD BabySeq Category A gene;Expert Review Red BabyScreen+ newborn screening Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Paroxysmal nonkinesigenic dyskinesia 1, MIM# 118800 False 1 0;0;100 1.116 True ENSG00000127838 ENSG00000127838 HGNC:9153 PNKP gene PNKP BabySeq Category A gene;Expert Review Red BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal Ataxia-oculomotor apraxia 4, MIM#616267;Microcephaly, seizures, and developmental delay, MIM#613402 27125728;27066567;27232581 False 1 0;0;100 1.116 True ENSG00000039650 ENSG00000039650 HGNC:9154 PNPLA1 gene PNPLA1 BabySeq Category C gene;Expert Review Red BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal Ichthyosis, autosomal recessive congenital False 1 0;0;0 1.116 False ENSG00000180316 ENSG00000180316 HGNC:21246 PODXL gene PODXL BabySeq Category C gene;Expert Review Red BabyScreen+ newborn screening Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Focal and segmental glomerulosclerosis False 1 0;0;0 1.116 False ENSG00000128567 ENSG00000128567 HGNC:9171 POLG gene POLG BabySeq Category A gene;Expert Review Red BabyScreen+ newborn screening Screening BOTH monoallelic and biallelic, autosomal or pseudoautosomal Mitochondrial DNA depletion syndrome 4A (Alpers type) MIM#203700;Mitochondrial DNA depletion syndrome 4B (MNGIE type) MIM#613662;Mitochondrial recessive ataxia syndrome (includes SANDO and SCAE) MIM#607459;Progressive external ophthalmoplegia, autosomal recessive 1 MIM#258450;Progressive external ophthalmoplegia, autosomal dominant 1, MIM# 157640 30451971;21880868 False 1 0;50;50 1.116 True ENSG00000140521 ENSG00000140521 HGNC:9179 POLH gene POLH BabySeq Category A gene;Expert Review Red BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal Xeroderma pigmentosum, variant type, MIM# 278750 False 1 0;0;100 1.116 True ENSG00000170734 ENSG00000170734 HGNC:9181 POMGNT1 gene POMGNT1 BabySeq Category A gene;Expert Review Red BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies, type A, 8 MIM#614830;Muscular dystrophy-dystroglycanopathy (limb-girdle) type C, 8 MIM#618135;Retinitis pigmentosa 76, MIM# 617123 False 1 0;0;100 1.116 True ENSG00000085998 ENSG00000085998 HGNC:19139 POMT1 gene POMT1 BabySeq Category A gene;Expert Review Red BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1 236670;Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 1 613155;Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 1 609308 False 1 0;0;100 1.116 True ENSG00000130714 ENSG00000130714 HGNC:9202 POMT2 gene POMT2 BabySeq Category A gene;Expert Review Red BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 2 613150;Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 2 613156;Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 2 MIM# 613158 False 1 0;0;100 1.116 True ENSG00000009830 ENSG00000009830 HGNC:19743 PORCN gene PORCN BabySeq Category A gene;Expert Review Red 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) Focal dermal hypoplasia, MIM#305600 False 1 0;0;100 1.116 True ENSG00000102312 ENSG00000102312 HGNC:17652 POU4F3 gene POU4F3 BabySeq Category A gene;Expert Review Red BabyScreen+ newborn screening Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Deafness, autosomal dominant 15, MIM# 602459 False 1 0;0;100 1.116 True ENSG00000091010 ENSG00000091010 HGNC:9220 PPIB gene PPIB Expert list;Expert Review Red BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal Osteogenesis imperfecta, type IX, MIM# 259440 19781681;32392875 False 1 0;0;100 1.116 True ENSG00000166794 ENSG00000166794 HGNC:9255 PPT1 gene PPT1 BabySeq Category A gene;Expert Review Red BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal Ceroid lipofuscinosis, neuronal, 1, MIM# 256730 21990111 False 1 0;0;100 1.116 True ENSG00000131238 ENSG00000131238 HGNC:9325 PQBP1 gene PQBP1 BabySeq Category A gene;Expert Review Red BabyScreen+ newborn screening Screening X-LINKED: hemizygous mutation in males, biallelic mutations in females Renpenning syndrome, MIM#309500 False 1 0;0;100 1.116 True ENSG00000102103 ENSG00000102103 HGNC:9330 PRDM16 gene PRDM16 BabySeq Category C gene;Expert Review Red BabyScreen+ newborn screening Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Left ventricular noncompaction False 1 0;0;0 1.116 False ENSG00000142611 ENSG00000142611 HGNC:14000 PREPL gene PREPL BabySeq Category C gene;BeginNGS;Expert Review Red BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal "Hypotonia - cystinuria syndrome;Myasthenic syndrome, congenital, 22, MIM# 616224" False 1 0;0;0 1.116 False ENSG00000138078 ENSG00000138078 HGNC:30228 PRICKLE1 gene PRICKLE1 BabySeq Category C gene;Expert Review Red BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal Epilepsy, progressive myoclonic 1B False 1 0;0;0 1.116 False ENSG00000139174 ENSG00000139174 HGNC:17019 PRKAG2 gene PRKAG2 BabySeq Category A gene;BabySeq Category B gene;BabySeq Category C gene;Expert Review Red BabyScreen+ newborn screening Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Cardiomyopathy, hypertrophic;Wolff-Parkinson-White syndrome;Glycogen storage disease of heart, lethal congenital False 1 0;0;0 1.116 False ENSG00000106617 ENSG00000106617 HGNC:9386 PRKCSH gene PRKCSH BabySeq Category C gene;Expert Review Red BabyScreen+ newborn screening Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Polycystic liver disease False 1 0;0;0 1.116 False ENSG00000130175 ENSG00000130175 HGNC:9411 PROC gene PROC BabySeq Category A gene;Expert Review Red BabyScreen+ newborn screening Screening BOTH monoallelic and biallelic, autosomal or pseudoautosomal Thrombophilia due to protein C deficiency, autosomal dominant (176860);Thrombophilia due to protein C deficiency, autosomal recessive (612304) False 1 0;0;100 1.116 True ENSG00000115718 ENSG00000115718 HGNC:9451 PRODH gene PRODH BabySeq Category C gene;Expert Review Red BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal Hyperprolinemia, type I False 1 0;0;0 1.116 False ENSG00000100033 ENSG00000100033 HGNC:9453 PROKR2 gene PROKR2 BabySeq Category A gene;Expert Review Red BabyScreen+ newborn screening Screening BOTH monoallelic and biallelic, autosomal or pseudoautosomal Hypogonadotropic hypogonadism 3 with or without anosmia, MIM# 244200 False 1 0;0;100 1.116 True ENSG00000101292 ENSG00000101292 HGNC:15836 PROS1 gene PROS1 BabySeq Category A gene;Expert Review Red BabyScreen+ newborn screening Screening BOTH monoallelic and biallelic, autosomal or pseudoautosomal Thrombophilia 5 due to protein S deficiency, autosomal dominant, MIM# 612336;Thrombophilia 5 due to protein S deficiency, autosomal recessive, MIM# 614514 False 1 0;0;100 1.116 True ENSG00000184500 ENSG00000184500 HGNC:9456 PRPS1 gene PRPS1 BabySeq Category C gene;Expert Review Red BabyScreen+ newborn screening Screening X-LINKED: hemizygous mutation in males, biallelic mutations in females Charcot-Marie-Tooth disease;Arts syndrome False 1 0;0;0 1.116 False ENSG00000147224 ENSG00000147224 HGNC:9462 PRRX1 gene PRRX1 BabySeq Category C gene;Expert Review Red BabyScreen+ newborn screening Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Agnathia-otocephaly complex False 1 0;0;0 1.116 False ENSG00000116132 ENSG00000116132 HGNC:9142 PRX gene PRX BabySeq Category A gene;Expert Review Red BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal Charcot-Marie-Tooth disease, type 4F, MIM# 614895;Dejerine-Sottas disease, MIM# 145900 False 1 0;0;100 1.116 True ENSG00000105227 ENSG00000105227 HGNC:13797 PSAP gene PSAP BabySeq Category A gene;Expert Review Red BabyScreen+ newborn screening Screening BOTH monoallelic and biallelic, autosomal or pseudoautosomal Parkinson disease;Combined SAP deficiency, MIM# 611721;Encephalopathy due to prosaposin deficiency, MONDO:0012719;Krabbe disease, atypical, MIM# 611722;Metachromatic leukodystrophy due to SAP-b deficiency, MIM# 249900;Gaucher disease, atypical, MIM# 610539 False 1 0;0;100 1.116 True ENSG00000197746 ENSG00000197746 HGNC:9498 PSAT1 gene PSAT1 BabySeq Category C gene;BeginNGS;Expert Review Red BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal "Phosphoserine aminotransferase deficiency , MIM# 610992;Phosphoserine aminotransferase deficiency" False 1 0;0;0 1.116 False ENSG00000135069 ENSG00000135069 HGNC:19129 PSEN1 gene PSEN1 BabySeq Category C gene;Expert Review Red BabyScreen+ newborn screening Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Alzheimer disease, type 3 False 1 0;0;0 1.116 False ENSG00000080815 ENSG00000080815 HGNC:9508 PSEN2 gene PSEN2 BabySeq Category C gene;Expert Review Red BabyScreen+ newborn screening Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Alzheimer disease, type 4 False 1 0;0;0 1.116 False ENSG00000143801 ENSG00000143801 HGNC:9509 PTEN gene PTEN BabySeq Category A gene;Expert Review Red BabyScreen+ newborn screening Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Cowden syndrome 1, MIM# 158350;Macrocephaly/autism syndrome, MIM# 605309 False 1 0;0;100 1.116 True ENSG00000171862 ENSG00000171862 HGNC:9588 PTH1R gene PTH1R BabySeq Category A gene;Expert Review Red BabyScreen+ newborn screening Screening BOTH monoallelic and biallelic, autosomal or pseudoautosomal Failure of tooth eruption, primary MIM#125350;Eiken syndrome MIM#600002;Metaphyseal chondrodysplasia, Murk Jansen type MIM#156400;Chondrodysplasia, Blomstrand type MIM#215045 False 1 0;0;100 1.116 True ENSG00000160801 ENSG00000160801 HGNC:9608 PTPN11 gene PTPN11 BabySeq Category A gene;Expert Review Red BabyScreen+ newborn screening Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Noonan syndrome 1, MIM# 163950 False 1 0;0;100 1.116 True ENSG00000179295 ENSG00000179295 HGNC:9644 PYGM gene PYGM Expert list;Expert Review Red BabyScreen+ newborn screening Screening BOTH monoallelic and biallelic, autosomal or pseudoautosomal McArdle disease, MIM# 232600;Glycogen storage disease, autosomal dominant False 1 0;0;100 1.116 True ENSG00000068976 ENSG00000068976 HGNC:9726 RAB10 gene RAB10 BabySeq Category C gene;Expert Review Red BabyScreen+ newborn screening Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Congenital heart disease False 1 0;0;0 1.116 False ENSG00000084733 ENSG00000084733 HGNC:9759 RAB23 gene RAB23 BabySeq Category A gene;Expert Review Red BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal Carpenter syndrome (MIM#201000) False 1 0;0;100 1.116 True ENSG00000112210 ENSG00000112210 HGNC:14263 RAB3GAP1 gene RAB3GAP1 BabySeq Category A gene;Expert Review Red BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal Warburg micro syndrome 1, MIM# 600118 Martsolf syndrome 2, MIM# 619420 False 1 0;0;100 1.116 True ENSG00000115839 ENSG00000115839 HGNC:17063 RAB3GAP2 gene RAB3GAP2 BabySeq Category C gene;Expert Review Red BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal Warburg micro syndrome 2, MIM# 614225 20967465;23420520 False 1 0;0;100 1.116 True ENSG00000118873 ENSG00000118873 HGNC:17168 RAB7A gene RAB7A BabySeq Category A gene;Expert Review Red BabyScreen+ newborn screening Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Charcot-Marie-Tooth disease, type 2B, MIM# 600882 False 1 0;0;100 1.116 True ENSG00000075785 ENSG00000075785 HGNC:9788 RAD51B gene RAD51B BabySeq Category C gene;Expert Review Red BabyScreen+ newborn screening Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Breast and/or ovarian cancer False 1 0;0;0 1.116 False ENSG00000182185 ENSG00000182185 HGNC:9822 RAF1 gene RAF1 BabySeq Category A gene;Expert Review Red BabyScreen+ newborn screening Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Noonan syndrome 5, MIM# 611553 False 1 0;0;100 1.116 True ENSG00000132155 ENSG00000132155 HGNC:9829 RAI1 gene RAI1 BabySeq Category A gene;Expert Review Red BabyScreen+ newborn screening Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Smith-Magenis syndrome (MIM#182290) False 1 0;0;100 1.116 True ENSG00000108557 ENSG00000108557 HGNC:9834 RANGRF gene RANGRF BabySeq Category C gene;Expert Review Red BabyScreen+ newborn screening Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Brugada syndrome False 1 0;0;0 1.116 False ENSG00000108961 ENSG00000108961 HGNC:17679 RASA1 gene RASA1 BabySeq Category A gene;Expert Review Red BabyScreen+ newborn screening Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Capillary malformation-arteriovenous malformation 1, MIM#608354 False 1 0;0;100 1.116 True ENSG00000145715 ENSG00000145715 HGNC:9871 RBM8A gene RBM8A BabySeq Category A gene;Expert Review Red BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal Thrombocytopenia-absent radius syndrome, MIM# 274000 False 1 0;0;100 1.116 True ENSG00000131795 ENSG00000265241 HGNC:9905 RECQL4 gene RECQL4 BabySeq Category A gene;Expert Review Red BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal Rothmund-Thomson syndrome, type 2, MIM# 268400 False 1 0;0;100 1.116 True ENSG00000160957 ENSG00000160957 HGNC:9949 RELN gene RELN BabySeq Category C gene;Expert Review Red BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal Lissencephaly syndrome False 1 0;0;0 1.116 False ENSG00000189056 ENSG00000189056 HGNC:9957 REN gene REN BabySeq Category A gene;Expert Review Red BabyScreen+ newborn screening Screening BOTH monoallelic and biallelic, autosomal or pseudoautosomal Renal tubular dysgenesis, MIM# 267430 False 1 0;0;100 1.116 True ENSG00000143839 ENSG00000143839 HGNC:9958 RETREG1 gene RETREG1 BabySeq Category C gene;Expert Review Red BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal Neuropathy, hereditary sensory and autonomic, type IIB, MIM# 613115 31737055;31596031;24327336;19838196 False 1 0;0;100 1.116 True ENSG00000154153 ENSG00000154153 HGNC:25964 RFWD3 gene RFWD3 BeginNGS;Expert Review Red BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal "Fanconi anaemia, complementation group W, MIM# 617784" False 1 0;0;100 1.116 True ENSG00000168411 ENSG00000168411 HGNC:25539 RFX6 gene RFX6 BabySeq Category C gene;Expert Review Red BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal Diabetes, neonatal, with intestinal atresia False 1 0;0;0 1.116 False ENSG00000185002 ENSG00000185002 HGNC:21478 RHAG gene RHAG BabySeq Category C gene;Expert Review Red BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal Rh-deficiency syndrome False 1 0;0;0 1.116 False ENSG00000112077 ENSG00000112077 HGNC:10006 ROR2 gene ROR2 BabySeq Category A gene;Expert Review Red BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal Robinow syndrome, autosomal recessive - MIM#268310 False 1 0;0;100 1.116 True ENSG00000169071 ENSG00000169071 HGNC:10257 RPGR gene RPGR BabySeq Category A gene;Expert Review Red BabyScreen+ newborn screening Screening X-LINKED: hemizygous mutation in males, biallelic mutations in females Retinitis pigmentosa, X-linked, and sinorespiratory infections, with or without deafness, MIM# 300455 False 1 0;0;100 1.116 True ENSG00000156313 ENSG00000156313 HGNC:10295 RPGRIP1L gene RPGRIP1L BabySeq Category A gene;Expert Review Red BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal Joubert syndrome 7, MIM# 611560;Meckel syndrome 5, MIM# 611561;COACH syndrome 3, MIM# 619113;Nephronophthisis False 1 0;0;100 1.116 True ENSG00000103494 ENSG00000103494 HGNC:29168 RPL18 gene RPL18 BeginNGS;Expert Review Red BabyScreen+ newborn screening Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted "Diamond-Blackfan anaemia 18 , MIM# 618310" False 1 0;0;100 1.116 True ENSG00000063177 ENSG00000063177 HGNC:10310 RPL26 gene RPL26 BeginNGS;Expert Review Red BabyScreen+ newborn screening Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted "Diamond-Blackfan anaemia 11 , MIM# 614900" False 1 0;0;100 1.116 True ENSG00000161970 ENSG00000161970 HGNC:10327 RPL27 gene RPL27 BeginNGS;Expert Review Red BabyScreen+ newborn screening Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted "Diamond-Blackfan anaemia 16 , MIM# 617408" False 1 0;0;100 1.116 True ENSG00000131469 ENSG00000131469 HGNC:10328 RPL35 gene RPL35 BeginNGS;Expert Review Red BabyScreen+ newborn screening Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted "Diamond-Blackfan anaemia 19 , MIM# 618312" False 1 0;0;100 1.116 True ENSG00000136942 ENSG00000136942 HGNC:10344 RPS15 gene RPS15 BabySeq Category A gene;Expert Review Red BabyScreen+ newborn screening Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Diamond-Blackfan anaemia, MONDO:0015253, RPS15-related 19061985 False 1 0;0;100 1.116 True ENSG00000115268 ENSG00000115268 HGNC:10388 RPS15A gene RPS15A BeginNGS;Expert Review Red BabyScreen+ newborn screening Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted "Diamond-Blackfan anaemia 20, MIM# 618313" False 1 0;0;100 1.116 True ENSG00000134419 ENSG00000134419 HGNC:10389 RPS27 gene RPS27 BeginNGS;Expert Review Red BabyScreen+ newborn screening Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted "Diamond-Blackfan anaemia 17, MIM# 617409" False 1 0;0;100 1.116 True ENSG00000177954 ENSG00000177954 HGNC:10416 RPS28 gene RPS28 BeginNGS;Expert Review Red BabyScreen+ newborn screening Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted "Diamond Blackfan anaemia 15 with mandibulofacial dysostosis, MIM# 606164" False 1 0;0;100 1.116 True ENSG00000233927 ENSG00000233927 HGNC:10418 RPS29 gene RPS29 BeginNGS;Expert Review Red BabyScreen+ newborn screening Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted "Diamond-Blackfan anaemia 13, MIM# 615909" False 1 0;0;100 1.116 True ENSG00000213741 ENSG00000213741 HGNC:10419 RPS6KA3 gene RPS6KA3 BabySeq Category A gene;Expert Review Red BabyScreen+ newborn screening Screening X-LINKED: hemizygous mutation in males, biallelic mutations in females Coffin-Lowry syndrome MIM# 303600 False 1 0;0;100 1.116 True ENSG00000177189 ENSG00000177189 HGNC:10432 RRM2B gene RRM2B BabySeq Category A gene;Expert Review Red BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal Mitochondrial DNA depletion syndrome 8A (encephalomyopathic type with renal tubulopathy) MIM#612075;Mitochondrial DNA depletion syndrome 8B (MNGIE type) MIM#612075;Rod-cone dystrophy, sensorineural deafness, and Fanconi-type renal dysfunction, MIM# 268315 False 1 0;0;100 1.116 True ENSG00000048392 ENSG00000048392 HGNC:17296 RS1 gene RS1 BabySeq Category A gene;Expert Review Red BabyScreen+ newborn screening Screening X-LINKED: hemizygous mutation in males, biallelic mutations in females Retinoschisis, MIM#312700 False 1 0;0;100 1.116 True ENSG00000102104 ENSG00000102104 HGNC:10457 RSPH4A gene RSPH4A BabySeq Category A gene;Expert Review Red BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal Ciliary dyskinesia, primary, 11 (MIM#612649) False 1 0;0;100 1.116 True ENSG00000111834 ENSG00000111834 HGNC:21558 RSPH9 gene RSPH9 BabySeq Category A gene;Expert Review Red BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal Ciliary dyskinesia, primary, 12 (MIM#612650) False 1 0;0;100 1.116 True ENSG00000172426 ENSG00000172426 HGNC:21057 RUNX2 gene RUNX2 BabySeq Category A gene;Expert Review Red BabyScreen+ newborn screening Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Cleidocranial dysplasia MIM#119600;Cleidocranial dysplasia, forme fruste, dental anomalies only MIM#119600;Cleidocranial dysplasia, forme fruste, with brachydactyly MIM#119600;Metaphyseal dysplasia with maxillary hypoplasia with or without brachydactyly MIM#156510 False 1 0;0;100 1.116 True ENSG00000124813 ENSG00000124813 HGNC:10472 SACS gene SACS BabySeq Category A gene;Expert Review Red BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal Spastic ataxia, Charlevoix-Saguenay type MIM#270550 False 1 0;0;100 1.116 True ENSG00000151835 ENSG00000151835 HGNC:10519 SALL1 gene SALL1 BabySeq Category A gene;Expert Review Red BabyScreen+ newborn screening Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Townes-Brocks syndrome 1, MIM#107480 False 1 0;0;100 1.116 True ENSG00000103449 ENSG00000103449 HGNC:10524 SARS gene SARS Expert list;Expert Review Red BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal Neurodevelopmental disorder with microcephaly, ataxia, and seizures MIM#617709 PMID:34570399, PMID: 34194004 False 1 0;0;100 1.116 True ENSG00000031698 ENSG00000031698 HGNC:10537 SC5D gene SC5D BabySeq Category C gene;Expert Review Red BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal Lathosterolosis False 1 0;0;0 1.116 False ENSG00000109929 ENSG00000109929 HGNC:10547 SCARB2 gene SCARB2 Expert list;Expert Review Red BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal Epilepsy, progressive myoclonic 4, with or without renal failure MIM#254900 PMID: 34337151, PMID: 35346091, PMID: 26677510 False 1 0;0;100 1.116 True ENSG00000138760 ENSG00000138760 HGNC:1665 SCN11A gene SCN11A BabySeq Category A gene;Expert Review Red BabyScreen+ newborn screening Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Neuropathy, hereditary sensory and autonomic, type VII, MIM# 615548 False 1 0;0;100 1.116 True ENSG00000168356 ENSG00000168356 HGNC:10583 SCN1A gene SCN1A BabySeq Category A gene;BeginNGS;Expert Review Red BabyScreen+ newborn screening Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted "Epileptic encephalopathy, early infantile, 6 (Dravet syndrome), MIM#604403;Developmental and epileptic encephalopathy 6B, non-Dravet , MIM#619317" 20301494 False 1 50;0;50 1.116 True ENSG00000144285 ENSG00000144285 HGNC:10585 SCN1B gene SCN1B BabySeq Category C gene;Expert Review Red BabyScreen+ newborn screening Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Brugada syndrome False 1 0;0;0 1.116 False ENSG00000105711 ENSG00000105711 HGNC:10586 SCN2A gene SCN2A BeginNGS;Expert Review Red BabyScreen+ newborn screening Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted "Developmental and epileptic encephalopathy 11, MIM# 613721" False 1 50;0;50 1.116 True ENSG00000136531 ENSG00000136531 HGNC:10588 SCN2B gene SCN2B BabySeq Category C gene;Expert Review Red BabyScreen+ newborn screening Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Atrial fibrillation False 1 0;0;0 1.116 False ENSG00000149575 ENSG00000149575 HGNC:10589 SCN3A gene SCN3A BeginNGS;Expert Review Red BabyScreen+ newborn screening Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Epileptic encephalopathy, early infantile, 62, MIM# 617938 34081427 False 1 50;0;50 1.116 True ENSG00000153253 ENSG00000153253 HGNC:10590 SCN3B gene SCN3B BabySeq Category C gene;Expert Review Red BabyScreen+ newborn screening Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Brugada syndrome False 1 0;0;0 1.116 False ENSG00000166257 ENSG00000166257 HGNC:20665 SCN4A gene SCN4A BabySeq Category A gene;BabySeq Category C gene;BeginNGS;Expert Review Red BabyScreen+ newborn screening Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Hyperkalemic periodic paralysis, type 2, MIM# 170500;Hypokalemic periodic paralysis, type 2;Paramyotonia congenita , MIM#168300;Myotonia congenita, atypical, acetazolamide-responsive , MIM#608390;Myasthenic syndrome, congenital, 16, MIM# 614198;Hyperkalemic periodic paralysis, type 2;Hypokalemic periodic paralysis, type 2, MIM# 613345 False 1 0;0;0 1.116 False ENSG00000007314 ENSG00000007314 HGNC:10591 SCN4B gene SCN4B BabySeq Category C gene;Expert Review Red BabyScreen+ newborn screening Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Long QT syndrome False 1 0;0;0 1.116 False ENSG00000177098 ENSG00000177098 HGNC:10592 SCN8A gene SCN8A BeginNGS;Expert Review Red BabyScreen+ newborn screening Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Developmental and epileptic encephalopathy 13, MIM#614558 False 1 50;0;50 1.116 True ENSG00000196876 ENSG00000196876 HGNC:10596 SCO1 gene SCO1 BabySeq Category C gene;Expert Review Red BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal Hepatic failure, early onset, and neurologic disorder False 1 0;0;0 1.116 False ENSG00000133028 ENSG00000133028 HGNC:10603 SCO2 gene SCO2 BabySeq Category A gene;Expert Review Red BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex IV deficiency, nuclear type 2, MC4DN2, MIM#604377 False 1 0;0;100 1.116 True ENSG00000130489 ENSG00000130489 HGNC:10604 SCP2 gene SCP2 BabySeq Category C gene;Expert Review Red BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal Leukoencephalopathy - dystonia - motor neuropathy False 1 0;0;0 1.116 False ENSG00000116171 ENSG00000116171 HGNC:10606 SDHD gene SDHD BabySeq Category A gene;Expert Review Red BabyScreen+ newborn screening Screening BOTH monoallelic and biallelic, autosomal or pseudoautosomal Mitochondrial complex II deficiency, nuclear type 3, MIM# 619167;Paragangliomas 1, with or without deafness, MIM# 168000 False 1 0;0;100 1.116 True ENSG00000204370 ENSG00000204370 HGNC:10683 SEC63 gene SEC63 BabySeq Category C gene;Expert Review Red BabyScreen+ newborn screening Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Polycystic liver disease False 1 0;0;0 1.116 False ENSG00000025796 ENSG00000025796 HGNC:21082 SELENON gene SELENON BabySeq Category A gene;Expert Review Red BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal Myopathy, congenital, with fiber-type disproportion, MIM# 255310 False 1 0;0;100 1.116 True ENSG00000162430 ENSG00000162430 HGNC:15999 SEMA3A gene SEMA3A BabySeq Category C gene;Expert Review Red BabyScreen+ newborn screening Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Kallmann syndrome 1 False 1 0;0;0 1.116 False ENSG00000075213 ENSG00000075213 HGNC:10723 SERPINA1 gene SERPINA1 BabySeq Category C gene;Expert Review Red BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal Emphysema-cirrhosis, due to AAT deficiency, MIM# 613490 False 1 0;50;50 1.116 True ENSG00000197249 ENSG00000197249 HGNC:8941 SERPINB6 gene SERPINB6 BabySeq Category C gene;Expert Review Red BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal Deafness, autosomal recessive False 1 0;0;0 1.116 False ENSG00000124570 ENSG00000124570 HGNC:8950 SERPINC1 gene SERPINC1 BabySeq Category C gene;Expert Review Red BabyScreen+ newborn screening Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Thrombophilia due to antithrombin III deficiency False 1 0;0;0 1.116 False ENSG00000117601 ENSG00000117601 HGNC:775 SERPIND1 gene SERPIND1 BabySeq Category C gene;Expert Review Red BabyScreen+ newborn screening Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Heparin cofactor 2 deficiency False 1 0;0;0 1.116 False ENSG00000099937 ENSG00000099937 HGNC:4838 SERPING1 gene SERPING1 Expert list;Expert Review Red BabyScreen+ newborn screening Screening BOTH monoallelic and biallelic, autosomal or pseudoautosomal Angioedema, hereditary, 1 and 2 MIM#106100 PMID: 32898710 False 1 0;0;100 1.116 True ENSG00000149131 ENSG00000149131 HGNC:1228 SETBP1 gene SETBP1 BabySeq Category A gene;Expert Review Red BabyScreen+ newborn screening Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Schinzel-Giedion midface retraction syndrome, MIM# 269150 False 1 0;0;100 1.116 True ENSG00000152217 ENSG00000152217 HGNC:15573 SETX gene SETX BabySeq Category A gene;Expert Review Red BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal Spinocerebellar ataxia, autosomal recessive 1, 606002 False 1 0;0;100 1.116 True ENSG00000107290 ENSG00000107290 HGNC:445 SFTPA2 gene SFTPA2 BabySeq Category C gene;Expert Review Red BabyScreen+ newborn screening Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Pulmonary fibrosis, idiopathic False 1 0;0;0 1.116 False ENSG00000185303 ENSG00000185303 HGNC:10799 SFTPB gene SFTPB BabySeq Category A gene;Expert Review Red BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal Surfactant metabolism dysfunction, pulmonary, 1, MIM# 265120 False 1 0;0;100 1.116 True ENSG00000168878 ENSG00000168878 HGNC:10801 SFTPC gene SFTPC BabySeq Category C gene;Expert Review Red BabyScreen+ newborn screening Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Surfactant metabolism dysfunction, pulmonary, 2, MIM# 610913 False 1 50;0;50 1.116 True ENSG00000168484 ENSG00000168484 HGNC:10802 SGCA gene SGCA BabySeq Category A gene;Expert Review Red BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal Muscular dystrophy, limb-girdle, autosomal recessive 3 MIM#608099 False 1 0;0;100 1.116 True ENSG00000108823 ENSG00000108823 HGNC:10805 SGCB gene SGCB BabySeq Category A gene;Expert Review Red BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal Muscular dystrophy, limb-girdle, autosomal recessive 4 MIM#604286 False 1 0;0;100 1.116 True ENSG00000163069 ENSG00000163069 HGNC:10806 SGCD gene SGCD BabySeq Category A gene;BabySeq Category C gene;Expert Review Red BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal Muscular dystrophy, limb-girdle, autosomal recessive 6, MIM# 601287 False 1 0;0;100 1.116 True ENSG00000170624 ENSG00000170624 HGNC:10807 SGCG gene SGCG BabySeq Category A gene;Expert Review Red BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal Muscular dystrophy, limb-girdle, autosomal recessive 5 MIM#253700 False 1 0;0;100 1.116 True ENSG00000102683 ENSG00000102683 HGNC:10809 SH3BP2 gene SH3BP2 BabySeq Category C gene;Expert Review Red BabyScreen+ newborn screening Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Cherubism False 1 0;0;0 1.116 False ENSG00000087266 ENSG00000087266 HGNC:10825 SH3TC2 gene SH3TC2 BabySeq Category A gene;Expert Review Red BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal Charcot-Marie-Tooth disease, type 4C MIM#601596 False 1 0;0;100 1.116 True ENSG00000169247 ENSG00000169247 HGNC:29427 SHANK3 gene SHANK3 BabySeq Category A gene;Expert Review Red BabyScreen+ newborn screening Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phelan-McDermid syndrome, MIM# 606232;MONDO:0011652 17173049;30842224;16284256;20186804;22892527 False 1 0;0;100 1.116 True ENSG00000251322 ENSG00000251322 HGNC:14294 SHH gene SHH BabySeq Category A gene;Expert Review Red BabyScreen+ newborn screening Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Holoprosencephaly 3, MIM#142945 False 1 0;0;100 1.116 True ENSG00000164690 ENSG00000164690 HGNC:10848 SHOC2 gene SHOC2 BabySeq Category C gene;Expert Review Red BabyScreen+ newborn screening Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Noonan-like syndrome with loose anagen hair False 1 0;0;0 1.116 False ENSG00000108061 ENSG00000108061 HGNC:15454 SIL1 gene SIL1 BabySeq Category A gene;Expert Review Red BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal Marinesco-Sjogren syndrome, MIM#248800 False 1 0;0;100 1.116 True ENSG00000120725 ENSG00000120725 HGNC:24624 SIX1 gene SIX1 BabySeq Category A gene;Expert Review Red BabyScreen+ newborn screening Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Branchiootic syndrome 3, MIM# 608389 False 1 0;0;100 1.116 True ENSG00000126778 ENSG00000126778 HGNC:10887 SIX2 gene SIX2 BabySeq Category C gene;Expert Review Red BabyScreen+ newborn screening Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Renal hypodysplasia False 1 0;0;0 1.116 False ENSG00000170577 ENSG00000170577 HGNC:10888 SIX3 gene SIX3 BabySeq Category A gene;Expert Review Red BabyScreen+ newborn screening Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Holoprosencephaly 2, MIM# 157170 False 1 0;0;100 1.116 True ENSG00000138083 ENSG00000138083 HGNC:10889 SIX5 gene SIX5 BabySeq Category C gene;Expert Review Red BabyScreen+ newborn screening Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Branchiootorenal syndrome False 1 0;0;0 1.116 False ENSG00000177045 ENSG00000177045 HGNC:10891 SKI gene SKI BabySeq Category A gene;Expert Review Red BabyScreen+ newborn screening Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Shprintzen-Goldberg syndrome, MIM#182212 False 1 0;0;100 1.116 True ENSG00000157933 ENSG00000157933 HGNC:10896 SLC11A2 gene SLC11A2 BabySeq Category C gene;Expert Review Red BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal Anemia, hypochromic microcytic False 1 0;0;0 1.116 False ENSG00000110911 ENSG00000110911 HGNC:10908 SLC12A3 gene SLC12A3 BabySeq Category A gene;Expert Review Red BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal Gitelman syndrome, MIM# 263800 False 1 0;0;100 1.116 True ENSG00000070915 ENSG00000070915 HGNC:10912 SLC12A5 gene SLC12A5 BabySeq Category C gene;Expert Review Red BabyScreen+ newborn screening Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Febrile seizures False 1 0;0;0 1.116 False ENSG00000124140 ENSG00000124140 HGNC:13818 SLC12A6 gene SLC12A6 BabySeq Category A gene;Expert Review Red BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal Agenesis of the corpus callosum with peripheral neuropathy, MIM#21800 False 1 0;0;100 1.116 True ENSG00000140199 ENSG00000140199 HGNC:10914 SLC13A5 gene SLC13A5 Expert Review Red;Literature BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal Developmental and epileptic encephalopathy 25, with amelogenesis imperfecta MIM#615905 29895383 False 1 0;50;50 1.116 True ENSG00000141485 ENSG00000141485 HGNC:23089 SLC16A12 gene SLC16A12 BabySeq Category C gene;Expert Review Red BabyScreen+ newborn screening Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Cataract, juvenile with microcornea and renal glucosuria False 1 0;0;0 1.116 False ENSG00000152779 ENSG00000152779 HGNC:23094 SLC17A5 gene SLC17A5 BabySeq Category A gene;Expert Review Red BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal Sialic acid storage disorder, infantile, MIM# 269920 False 1 0;0;100 1.116 True ENSG00000119899 ENSG00000119899 HGNC:10933 SLC1A3 gene SLC1A3 Expert list;Expert Review Red BabyScreen+ newborn screening Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Episodic ataxia, type 6 MIM#612656 PMID: 32754645 False 1 0;0;100 1.116 True ENSG00000079215 ENSG00000079215 HGNC:10941 SLC25A12 gene SLC25A12 BabySeq Category C gene;Expert Review Red BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal Hypomyelination, global cerebral False 1 0;0;0 1.116 False ENSG00000115840 ENSG00000115840 HGNC:10982 SLC25A22 gene SLC25A22 BabySeq Category C gene;Expert Review Red BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal Early myoclonic encephalopathy False 1 0;0;0 1.116 False ENSG00000177542 ENSG00000177542 HGNC:19954 SLC25A4 gene SLC25A4 BabySeq Category A gene;Expert Review Red BabyScreen+ newborn screening Screening BOTH monoallelic and biallelic, autosomal or pseudoautosomal Mitochondrial DNA depletion syndrome 12A (cardiomyopathic type) AD, MIM#617184;Mitochondrial DNA depletion syndrome 12B (cardiomyopathic type) AR, MIM#615418 False 1 0;0;100 1.116 True ENSG00000151729 ENSG00000151729 HGNC:10990 SLC26A2 gene SLC26A2 BabySeq Category A gene;Expert Review Red BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal Achondrogenesis 1B, MIM#600972 False 1 0;0;100 1.116 True ENSG00000155850 ENSG00000155850 HGNC:10994 SLC27A4 gene SLC27A4 BabySeq Category A gene;Expert Review Red BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal Ichthyosis prematurity syndrome, MIM#608649 20301593 False 1 0;0;100 1.116 True ENSG00000167114 ENSG00000167114 HGNC:10998 SLC27A5 gene SLC27A5 BabySeq Category C gene;Expert Review Red BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal Bile acid amidation defect False 1 0;0;0 1.116 False ENSG00000083807 ENSG00000083807 HGNC:10999 SLC2A10 gene SLC2A10 BabySeq Category A gene;Expert Review Red BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal Arterial tortuosity syndrome MIM#208050 False 1 0;0;100 1.116 True ENSG00000197496 ENSG00000197496 HGNC:13444 SLC33A1 gene SLC33A1 BabySeq Category C gene;Expert Review Red BabyScreen+ newborn screening Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Spastic paraplegia, autosomal dominant;Congenital cataracts, hearing loss and low serum copper and ceruloplasmin False 1 0;0;0 1.116 False ENSG00000169359 ENSG00000169359 HGNC:95 SLC34A2 gene SLC34A2 BabySeq Category A gene;Expert Review Red BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal Pulmonary alveolar microlithiasis, MIM# 265100 False 1 0;0;100 1.116 True ENSG00000157765 ENSG00000157765 HGNC:11020 SLC35A1 gene SLC35A1 BabySeq Category C gene;Expert Review Red BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal CDG syndrome type IIf False 1 0;0;0 1.116 False ENSG00000164414 ENSG00000164414 HGNC:11021 SLC35D1 gene SLC35D1 BabySeq Category A gene;Expert Review Red BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal Schneckenbecken dysplasia 269250, MONDO:0010013 False 1 0;0;100 1.116 True ENSG00000116704 ENSG00000116704 HGNC:20800 SLC3A1 gene SLC3A1 BabySeq Category A gene;Expert Review Red BabyScreen+ newborn screening Screening BOTH monoallelic and biallelic, autosomal or pseudoautosomal Cystinuria, MIM# 220100 False 1 0;0;100 1.116 True ENSG00000138079 ENSG00000138079 HGNC:11025 SLC41A1 gene SLC41A1 BabySeq Category C gene;Expert Review Red BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal Nephronophthisis-like nephropathy 2, MIM# 619468 23661805 False 1 0;0;0 1.116 False ENSG00000133065 ENSG00000133065 HGNC:19429 SLC45A2 gene SLC45A2 BabySeq Category A gene;Expert Review Red BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal Albinism, oculocutaneous, type IV, MIM# 606574 False 1 0;0;100 1.116 True ENSG00000164175 ENSG00000164175 HGNC:16472 SLC4A10 gene SLC4A10 BabySeq Category C gene;Expert Review Red BabyScreen+ newborn screening Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Epilepsy & mental retardation False 1 0;0;0 1.116 False ENSG00000144290 ENSG00000144290 HGNC:13811 SLC4A11 gene SLC4A11 BabySeq Category A gene;Expert Review Red BabyScreen+ newborn screening Screening BOTH monoallelic and biallelic, autosomal or pseudoautosomal Corneal endothelial dystrophy and perceptive deafness, MIM# 217400 False 1 0;0;100 1.116 True ENSG00000088836 ENSG00000088836 HGNC:16438 SLC4A4 gene SLC4A4 BabySeq Category C gene;Expert Review Red BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal Renal tubular acidosis, proximal, with ocular abnormalities, MIM# 604278 False 1 0;0;100 1.116 True ENSG00000080493 ENSG00000080493 HGNC:11030 SLC5A2 gene SLC5A2 BabySeq Category A gene;Expert Review Red BabyScreen+ newborn screening Screening BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal Renal glucosuria, MIM# 233100 False 1 0;0;100 1.116 True ENSG00000140675 ENSG00000140675 HGNC:11037 SLC6A19 gene SLC6A19 BabySeq Category C gene;Expert Review Red BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal Hartnup disorder, MIM # 234500 False 1 0;0;100 1.116 True ENSG00000174358 ENSG00000174358 HGNC:27960 SLC6A2 gene SLC6A2 BabySeq Category C gene;Expert Review Red BabyScreen+ newborn screening Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Orthostatic intolerance False 1 0;0;0 1.116 False ENSG00000103546 ENSG00000103546 HGNC:11048 SLC7A9 gene SLC7A9 BabySeq Category A gene;Expert Review Red BabyScreen+ newborn screening Screening BOTH monoallelic and biallelic, autosomal or pseudoautosomal Cystinuria, MIM# 220100 False 1 0;0;100 1.116 True ENSG00000021488 ENSG00000021488 HGNC:11067 SLC9A3R1 gene SLC9A3R1 BabySeq Category C gene;Expert Review Red BabyScreen+ newborn screening Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Nephrolithiasis/osteoporosis, hypophosphatemic, 2 False 1 0;0;0 1.116 False ENSG00000109062 ENSG00000109062 HGNC:11075 SLC9A6 gene SLC9A6 BabySeq Category A gene;Expert Review Red BabyScreen+ newborn screening Screening X-LINKED: hemizygous mutation in males, biallelic mutations in females Mental retardation, X-linked syndromic, Christianson type, MIM# 300243 False 1 0;0;100 1.116 True ENSG00000198689 ENSG00000198689 HGNC:11079 SLCO1B1 gene SLCO1B1 BabySeq Category C gene;Expert Review Red BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal Hyperbilirubinemia, Rotor type, digenic False 1 0;0;0 1.116 False ENSG00000134538 ENSG00000134538 HGNC:10959 SLCO1B3 gene SLCO1B3 BabySeq Category C gene;Expert Review Red BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal Hyperbilirubinemia, Rotor type, digenic False 1 0;0;0 1.116 False ENSG00000111700 ENSG00000111700 HGNC:10961 SLCO2A1 gene SLCO2A1 BabySeq Category A gene;Expert Review Red BabyScreen+ newborn screening Screening BOTH monoallelic and biallelic, autosomal or pseudoautosomal Hypertrophic osteoarthropathy, primary, autosomal recessive 2, MIM# 614441;Hypertrophic osteoarthropathy, primary, autosomal dominant, MIM# 167100 22331663;27134495;33852188;23509104 False 1 0;0;100 1.116 True ENSG00000174640 ENSG00000174640 HGNC:10955 SMAD1 gene SMAD1 BabySeq Category C gene;Expert Review Red BabyScreen+ newborn screening Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Pulmonary arterial hypertension False 1 0;0;0 1.116 False ENSG00000170365 ENSG00000170365 HGNC:6767 SMAD4 gene SMAD4 BabySeq Category A gene;Expert Review Red BabyScreen+ newborn screening Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Polyposis, juvenile intestinal, MIM# 174900;Myhre syndrome, MIM# 139210 20301642 False 1 0;0;100 1.116 True ENSG00000141646 ENSG00000141646 HGNC:6770 SMAD6 gene SMAD6 BabySeq Category C gene;Expert Review Red BabyScreen+ newborn screening Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Cardiovascular malformation, congenital False 1 0;0;0 1.116 False ENSG00000137834 ENSG00000137834 HGNC:6772 SMAD9 gene SMAD9 BabySeq Category C gene;Expert Review Red BabyScreen+ newborn screening Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Pulmonary arterial hypertension False 1 0;0;0 1.116 False ENSG00000120693 ENSG00000120693 HGNC:6774 SMC1A gene SMC1A BabySeq Category A gene;Expert Review Red BabyScreen+ newborn screening Screening X-LINKED: hemizygous mutation in males, biallelic mutations in females Cornelia de Lange syndrome 2, MIM# 300590;Epileptic encephalopathy, early infantile, 85, with or without midline brain defects, MIM# 301044 False 1 0;0;100 1.116 True ENSG00000072501 ENSG00000072501 HGNC:11111 SMO gene SMO BabySeq Category C gene;Expert Review Red BabyScreen+ newborn screening Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Medulloblastoma False 1 0;0;0 1.116 False ENSG00000128602 ENSG00000128602 HGNC:11119 SMPX gene SMPX BabySeq Category A gene;Expert Review Red BabyScreen+ newborn screening Screening X-LINKED: hemizygous mutation in males, biallelic mutations in females Deafness, X-linked 4, MIM# 300066 False 1 0;0;100 1.116 True ENSG00000091482 ENSG00000091482 HGNC:11122 SNAP25 gene SNAP25 BeginNGS;Expert Review Red BabyScreen+ newborn screening Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Neurodevelopmental disorder, MONDO:0700092, SNAP25-related 20301347 False 1 0;0;100 1.116 True ENSG00000132639 ENSG00000132639 HGNC:11132 SNAP29 gene SNAP29 BabySeq Category C gene;Expert Review Red BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome False 1 0;0;0 1.116 False ENSG00000099940 ENSG00000099940 HGNC:11133 SOD1 gene SOD1 BabySeq Category C gene;Expert Review Red BabyScreen+ newborn screening Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Amyotrophic lateral sclerosis False 1 0;0;0 1.116 False ENSG00000142168 ENSG00000142168 HGNC:11179 SORD gene SORD Expert list;Expert Review Red BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal Sorbitol dehydrogenase deficiency with peripheral neuropathy MIM#618912 PMID: 32367058 False 1 0;0;100 1.116 True ENSG00000140263 ENSG00000140263 HGNC:11184 SOX10 gene SOX10 BabySeq Category A gene;Expert Review Red BabyScreen+ newborn screening Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Shah-Waardenburg syndrome False 1 0;0;100 1.116 True ENSG00000100146 ENSG00000100146 HGNC:11190 SOX18 gene SOX18 BabySeq Category C gene;Expert Review Red BabyScreen+ newborn screening Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Hypotrichosis-lymphedema-telangiectasia syndrome False 1 0;0;0 1.116 False ENSG00000203883 ENSG00000203883 HGNC:11194 SOX9 gene SOX9 BabySeq Category A gene;Expert Review Red BabyScreen+ newborn screening Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Campomelic dysplasia, MIM# 114290 False 1 0;0;100 1.116 True ENSG00000125398 ENSG00000125398 HGNC:11204 SPARC gene SPARC Expert list;Expert Review Red BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal Osteogenesis imperfecta, type XVII, MIM# 616507 26027498;34462290 False 1 0;0;100 1.116 True ENSG00000113140 ENSG00000113140 HGNC:11219 SPEG gene SPEG BabySeq Category C gene;Expert Review Red BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal Centronuclear myopathy 5, MIM# 615959 26578207;25087613;30157964;29614691;28624463;30412272;31625632;29474540 False 1 0;0;100 1.116 True ENSG00000072195 ENSG00000072195 HGNC:16901 SPINK5 gene SPINK5 BabySeq Category A gene;Expert Review Red BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal Netherton syndrome MIM# 256500 False 1 0;0;100 1.116 True ENSG00000133710 ENSG00000133710 HGNC:15464 SPRED1 gene SPRED1 BabySeq Category A gene;Expert Review Red BabyScreen+ newborn screening Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Legius syndrome, MIM# 611431 False 1 0;0;100 1.116 True ENSG00000166068 ENSG00000166068 HGNC:20249 SPTA1 gene SPTA1 BabySeq Category A gene;Expert Review Red BabyScreen+ newborn screening Screening BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal Elliptocytosis-2 MIM# 130600;Pyropoikilocytosis MIM# 266140;Spherocytosis, type 3 MIM# 270970 False 1 0;0;100 1.116 True ENSG00000163554 ENSG00000163554 HGNC:11272 SPTB gene SPTB BabySeq Category A gene;Expert Review Red BabyScreen+ newborn screening Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Anaemia, neonatal haemolytic, fatal or near-fatal MIM# 617948 False 1 0;0;100 1.116 False ENSG00000070182 ENSG00000070182 HGNC:11274 SPTLC2 gene SPTLC2 BabySeq Category C gene;Expert Review Red BabyScreen+ newborn screening Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Neuropathy, hereditary sensory and autonomic, type IC False 1 0;0;0 1.116 False ENSG00000100596 ENSG00000100596 HGNC:11278 SRCAP gene SRCAP BabySeq Category A gene;Expert Review Red BabyScreen+ newborn screening Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Floating-Harbor syndrome MIM#136140;Developmental delay, hypotonia, musculoskeletal defects, and behavioral abnormalities, MIM# 619595 False 1 0;0;100 1.116 True ENSG00000080603 ENSG00000080603 HGNC:16974 ST14 gene ST14 BabySeq Category C gene;Expert Review Red BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal Ichthyosis hypotrichosis syndrome False 1 0;0;0 1.116 False ENSG00000149418 ENSG00000149418 HGNC:11344 ST3GAL5 gene ST3GAL5 BabySeq Category C gene;Expert Review Red BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal Amish infantile epilepsy syndrome False 1 0;0;0 1.116 False ENSG00000115525 ENSG00000115525 HGNC:10872 STAC3 gene STAC3 BabySeq Category C gene;Expert Review Red BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal Myopathy, congenital, Baily-Bloch, MIM# 255995 28411587;30168660;23736855;28777491 False 1 0;0;100 1.116 True ENSG00000185482 ENSG00000185482 HGNC:28423 STRA6 gene STRA6 BabySeq Category A gene;Expert Review Red BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal Microphthalmia, syndromic 9, MIM# 601186 False 1 0;0;100 1.116 True ENSG00000137868 ENSG00000137868 HGNC:30650 STS gene STS BabySeq Category A gene;Expert Review Red BabyScreen+ newborn screening Screening X-LINKED: hemizygous mutation in males, biallelic mutations in females Ichthyosis, X-linked, MIM# 308100 False 1 0;0;100 1.116 True ENSG00000101846 ENSG00000101846 HGNC:11425 STXBP1 gene STXBP1 BabySeq Category A gene;Expert Review Red BabyScreen+ newborn screening Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Developmental and epileptic encephalopathy 4, MIM# 612164 False 1 0;0;100 1.116 True ENSG00000136854 ENSG00000136854 HGNC:11444 SUCLA2 gene SUCLA2 BabySeq Category A gene;Expert Review Red BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria), MIM# 612073, MONDO:0012791 False 1 0;0;100 1.116 True ENSG00000136143 ENSG00000136143 HGNC:11448 SUCLG1 gene SUCLG1 BabySeq Category A gene;Expert Review Red BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal Mitochondrial DNA depletion syndrome 9 (encephalomyopathic type with methylmalonic aciduria) MIM#245400 False 1 0;0;100 1.116 True ENSG00000163541 ENSG00000163541 HGNC:11449 SUFU gene SUFU Expert list;Expert Review Red BabyScreen+ newborn screening Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted {Medulloblastoma} MIM#155255 PMID: 29186568 False 1 0;0;100 1.116 True ENSG00000107882 ENSG00000107882 HGNC:16466 SURF1 gene SURF1 BabySeq Category A gene;Expert Review Red BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal Charcot-Marie-Tooth disease, type 4K MIM#616684;Mitochondrial complex IV deficiency, nuclear type 1 MIM#220110 False 1 0;0;100 1.116 True ENSG00000148290 ENSG00000148290 HGNC:11474 SYNE4 gene SYNE4 BabySeq Category C gene;Expert Review Red BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal Hearing loss False 1 0;0;0 1.116 False ENSG00000181392 ENSG00000181392 HGNC:26703 SYT14 gene SYT14 BabySeq Category C gene;Expert Review Red BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal Spinocerebellar ataxia, autosomal recessive 11 False 1 0;0;0 1.116 False ENSG00000143469 ENSG00000143469 HGNC:23143 TAB2 gene TAB2 BabySeq Category C gene;Expert Review Red BabyScreen+ newborn screening Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Congenital heart disease, nonsyndromic False 1 0;0;0 1.116 False ENSG00000055208 ENSG00000055208 HGNC:17075 TARDBP gene TARDBP BabySeq Category C gene;Expert Review Red BabyScreen+ newborn screening Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Amyotrophic lateral sclerosis type 10 False 1 0;0;0 1.116 False ENSG00000120948 ENSG00000120948 HGNC:11571 TAZ gene TAZ BabySeq Category A gene;BeginNGS;Expert Review Red BabyScreen+ newborn screening Screening X-LINKED: hemizygous mutation in males, biallelic mutations in females Barth syndrome, MIM#302060 25299040 False 1 0;0;100 1.116 True ENSG00000102125 ENSG00000102125 HGNC:11577 TBC1D24 gene TBC1D24 BabySeq Category A gene;Expert Review Red BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal DOORS syndrome MIM#220500 False 1 0;0;100 1.116 True ENSG00000162065 ENSG00000162065 HGNC:29203 TBCE gene TBCE BabySeq Category C gene;Expert Review Red BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal Hypoparathyroidism retardation dysmorphism syndrome False 1 0;0;0 1.116 False ENSG00000116957 ENSG00000116957 HGNC:11582 TBX1 gene TBX1 BabySeq Category A gene;Expert Review Red BabyScreen+ newborn screening Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted DiGeorge syndrome MIM# 188400;Velocardiofacial syndrome MIM# 192430 False 1 0;50;50 1.116 True ENSG00000184058 ENSG00000184058 HGNC:11592 TBX20 gene TBX20 BabySeq Category C gene;Expert Review Red BabyScreen+ newborn screening Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Congenital heart disease False 1 0;0;0 1.116 False ENSG00000164532 ENSG00000164532 HGNC:11598 TBX5 gene TBX5 BabySeq Category A gene;Expert Review Red BabyScreen+ newborn screening Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Holt-Oram syndrome, MIM# 142900 False 1 0;0;100 1.116 True ENSG00000089225 ENSG00000089225 HGNC:11604 TCAP gene TCAP BabySeq Category A gene;BabySeq Category C gene;Expert Review Red BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal Cardiomyopathy, dilated;Muscular dystrophy, limb-girdle, type 2G False 1 0;0;0 1.116 False ENSG00000173991 ENSG00000173991 HGNC:11610 TCOF1 gene TCOF1 BabySeq Category A gene;Expert Review Red BabyScreen+ newborn screening Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Treacher Collins syndrome 1, MIM# 154500 False 1 0;0;100 1.116 True ENSG00000070814 ENSG00000070814 HGNC:11654 TCTN1 gene TCTN1 BabySeq Category C gene;Expert Review Red BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal Joubert syndrome False 1 0;0;0 1.116 False ENSG00000204852 ENSG00000204852 HGNC:26113 TCTN3 gene TCTN3 BabySeq Category C gene;Expert Review Red BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal Joubert syndrome False 1 0;0;0 1.116 False ENSG00000119977 ENSG00000119977 HGNC:24519 TFAP2A gene TFAP2A BabySeq Category A gene;Expert Review Red BabyScreen+ newborn screening Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Branchiooculofacial syndrome, MIM 107580 False 1 0;50;50 1.116 True ENSG00000137203 ENSG00000137203 HGNC:11742 TFAP2B gene TFAP2B BabySeq Category A gene;Expert Review Red BabyScreen+ newborn screening Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Char syndrome, MIM 169100 False 1 0;50;50 1.116 True ENSG00000008196 ENSG00000008196 HGNC:11743 TFG gene TFG BabySeq Category A gene;Expert Review Red BabyScreen+ newborn screening Screening BOTH monoallelic and biallelic, autosomal or pseudoautosomal Hereditary motor and sensory neuropathy, Okinawa type, MIM# 604484;Spastic paraplegia 57, autosomal recessive, MIM# 615658 False 1 0;0;100 1.116 True ENSG00000114354 ENSG00000114354 HGNC:11758 TFR2 gene TFR2 BabySeq Category C gene;Expert Review Red BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal Hemochromatosis type 3 False 1 0;0;0 1.116 False ENSG00000106327 ENSG00000106327 HGNC:11762 TGFB1 gene TGFB1 BabySeq Category C gene;Expert Review Red BabyScreen+ newborn screening Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Camurati-Engelmann disease False 1 0;0;0 1.116 False ENSG00000105329 ENSG00000105329 HGNC:11766 TGIF1 gene TGIF1 BabySeq Category C gene;Expert Review Red BabyScreen+ newborn screening Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Holoprosencephaly-4 False 1 0;0;0 1.116 False ENSG00000177426 ENSG00000177426 HGNC:11776 TGM1 gene TGM1 BabySeq Category A gene;Expert Review Red BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal Ichthyosis, congenital, autosomal recessive 1 (MIM#242300) False 1 0;0;100 1.116 True ENSG00000092295 ENSG00000092295 HGNC:11777 TGM5 gene TGM5 BabySeq Category A gene;Expert Review Red BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal Peeling skin syndrome 2, MIM# 609796 False 1 0;0;100 1.116 True ENSG00000104055 ENSG00000104055 HGNC:11781 THAP11 gene THAP11 Expert list;Expert Review Red BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal Methylmalonic aciduria, cblC type-like, MIM# 620940;Inborn disorder of cobalamin metabolism and transport, MONDO:0019220, THAP11-related PMID: 28449119, PMID: 31905202 False 1 0;0;100 1.116 True ENSG00000168286 ENSG00000168286 HGNC:23194 THBD gene THBD BabySeq Category C gene;Expert Review Red BabyScreen+ newborn screening Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Haemolytic uraemic syndrome False 1 0;0;0 1.116 False ENSG00000178726 ENSG00000178726 HGNC:11784 THBS1 gene THBS1 BabySeq Category C gene;Expert Review Red BabyScreen+ newborn screening Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Pulmonary hypertension False 1 0;0;0 1.116 False ENSG00000137801 ENSG00000137801 HGNC:11785 THRB gene THRB BabySeq Category A gene;Expert Review Red BabyScreen+ newborn screening Screening BOTH monoallelic and biallelic, autosomal or pseudoautosomal Thyroid hormone resistance, MIM# 188570;Thyroid hormone resistance, autosomal recessive, MIM# 274300;Thyroid hormone resistance, selective pituitary, MIM# 145650 False 1 0;0;100 1.116 True ENSG00000151090 ENSG00000151090 HGNC:11799 TIMM8A gene TIMM8A BabySeq Category A gene;Expert Review Red BabyScreen+ newborn screening Screening X-LINKED: hemizygous mutation in males, biallelic mutations in females Mohr-Tranebjaerg syndrome MIM#304700 20301395 False 1 0;100;0 1.116 True ENSG00000126953 ENSG00000126953 HGNC:11817 TJP2 gene TJP2 BabySeq Category C gene;Expert Review Red BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal Hypercholanemia, familial False 1 0;0;0 1.116 False ENSG00000119139 ENSG00000119139 HGNC:11828 TMC8 gene TMC8 BabySeq Category C gene;Expert Review Red BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal Epidermodysplasia verruciformi False 1 0;0;0 1.116 False ENSG00000167895 ENSG00000167895 HGNC:20474 TMEM216 gene TMEM216 BabySeq Category C gene;Expert Review Red BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal Joubert syndrome;Meckel syndrome False 1 0;0;0 1.116 False ENSG00000187049 ENSG00000187049 HGNC:25018 TMEM237 gene TMEM237 BabySeq Category C gene;Expert Review Red BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal Joubert syndrome False 1 0;0;0 1.116 False ENSG00000155755 ENSG00000155755 HGNC:14432 TMEM43 gene TMEM43 BabySeq Category A gene;Expert Review Red BabyScreen+ newborn screening Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Arrhythmogenic right ventricular dysplasia 5 MIM#604400 20301310;34674311 False 1 0;0;100 1.116 True ENSG00000170876 ENSG00000170876 HGNC:28472 TMEM67 gene TMEM67 BabySeq Category A gene;Expert Review Red BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal COACH syndrome MIM#216360;Joubert syndrome MIM#10688;Meckel syndrome MIM#607361;Nephronophthisis MIM#613550 20232449;26092869;27336129 False 1 0;0;100 1.116 True ENSG00000164953 ENSG00000164953 HGNC:28396 TMPO gene TMPO BabySeq Category C gene;Expert Review Red BabyScreen+ newborn screening Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Cardiomyopathy, dilated False 1 0;0;0 1.116 False ENSG00000120802 ENSG00000120802 HGNC:11875 TNFAIP3 gene TNFAIP3 Expert list;Expert Review Red BabyScreen+ newborn screening Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Autoinflammatory syndrome, familial, Behcet-like 1 MIM#616744 PMID: 31587140, PMID: 33101300 False 1 0;0;100 1.116 True ENSG00000118503 ENSG00000118503 HGNC:11896 TNFRSF13B gene TNFRSF13B Expert list;Expert Review Red BabyScreen+ newborn screening Screening BOTH monoallelic and biallelic, autosomal or pseudoautosomal Immunodeficiency, common variable, 2 MIM#240500 PMID: 31681716, PMID: 18981294 False 1 0;0;100 1.116 True ENSG00000240505 ENSG00000240505 HGNC:18153 TNFRSF13C gene TNFRSF13C Expert list;Expert Review Red BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal "Immunodeficiency, common variable, 4 MIM#613494" PMID: 19666484, PMID: 27250108, PMID: 18025937 False 1 0;0;100 1.116 True ENSG00000159958 ENSG00000159958 HGNC:17755 TNFRSF1A gene TNFRSF1A Expert list;Expert Review Red BabyScreen+ newborn screening Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Periodic fever, familial MIM#142680 PMID: 11175303, PMID: 32066461, PMID: 29773275, PMID: 32831641 False 1 0;0;100 1.116 True ENSG00000067182 ENSG00000067182 HGNC:11916 TNNI2 gene TNNI2 BabySeq Category A gene;Expert Review Red BabyScreen+ newborn screening Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Arthrogryposis, distal, type 2B1 MIM#601680 34502093 False 1 0;0;100 1.116 True ENSG00000130598 ENSG00000130598 HGNC:11946 TNNT1 gene TNNT1 BabySeq Category A gene;Expert Review Red BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal Nemaline myopathy 5, Amish type MIM#605355 29931346;10952871 False 1 0;0;100 1.116 True ENSG00000105048 ENSG00000105048 HGNC:11948 TNNT3 gene TNNT3 BabySeq Category A gene;Expert Review Red BabyScreen+ newborn screening Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Arthrogryposis, distal MIM#618435 19309503 False 1 0;0;100 1.116 True ENSG00000130595 ENSG00000130595 HGNC:11950 TNXB gene TNXB BabySeq Category C gene;Expert Review Red BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal Ehlers-Danlos syndrome due to tenascin X deficiency False 1 0;0;0 1.116 False ENSG00000168477 ENSG00000168477 HGNC:11976 TPM2 gene TPM2 BabySeq Category A gene;Expert Review Red BabyScreen+ newborn screening Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Arthrgryposis MIM#108120;Nemaline myopathy MIM#609285 27726070 False 1 0;0;100 1.116 True ENSG00000198467 ENSG00000198467 HGNC:12011 TPM3 gene TPM3 BabySeq Category A gene;Expert Review Red BabyScreen+ newborn screening Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted CAP myopathy 1, MIM# 609284;Myopathy, congenital, with fiber-type disproportion, MIM# 255310;Nemaline myopathy 1, autosomal dominant or recessive, MIM# 609284 26307083;35668205 False 1 0;0;100 1.116 True ENSG00000143549 ENSG00000143549 HGNC:12012 TRAC gene TRAC Expert Review;Expert Review Red BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal Immunodeficiency 7, TCR-alpha/beta deficient, MIM#615387 21206088 False 1 0;0;100 1.116 True ENSG00000229164 ENSG00000277734 HGNC:12029 TRAPPC2 gene TRAPPC2 BabySeq Category A gene;Expert Review Red BabyScreen+ newborn screening Screening X-LINKED: hemizygous mutation in males, biallelic mutations in females Spondyloepiphyseal dysplasia tarda MIM#313400 20301324 False 1 0;0;100 1.116 True ENSG00000196459 ENSG00000196459 HGNC:23068 TRH gene TRH BabySeq Category C gene;Expert Review Red BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal Thyrotropin-releasing hormone deficiency False 1 0;0;0 1.116 False ENSG00000170893 ENSG00000170893 HGNC:12298 TRIM32 gene TRIM32 BabySeq Category A gene;Expert Review Red BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal Muscular dystrophy, limb-girdle, autosomal recessive 8 MIM#254110 21496629;23142638 False 1 0;0;100 1.116 True ENSG00000119401 ENSG00000119401 HGNC:16380 TRIM37 gene TRIM37 BabySeq Category A gene;Expert Review Red BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal Mulibrey nanism MIM#253250 7735507;30586926 False 1 0;50;50 1.116 True ENSG00000108395 ENSG00000108395 HGNC:7523 TRIP11 gene TRIP11 BabySeq Category C gene;Expert Review Red BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal Achondrogenesis type 1A False 1 0;0;0 1.116 False ENSG00000100815 ENSG00000100815 HGNC:12305 TRPM2 gene TRPM2 BabySeq Category C gene;Expert Review Red BabyScreen+ newborn screening Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted ALS and Parkinson's disease False 1 0;0;0 1.116 False ENSG00000142185 ENSG00000142185 HGNC:12339 TSC1 gene TSC1 BabySeq Category A gene;BeginNGS;Expert Review Red BabyScreen+ newborn screening Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Tuberous sclerosis 1, MIM#191100 20301399 False 1 50;0;50 1.116 True ENSG00000165699 ENSG00000165699 HGNC:12362 TSC2 gene TSC2 BabySeq Category A gene;BeginNGS;Expert Review Red BabyScreen+ newborn screening Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Tuberous sclerosis 2, MIM#613254 21309039;11112665;24053983;20301399 False 1 50;0;50 1.116 True ENSG00000103197 ENSG00000103197 HGNC:12363 TSEN54 gene TSEN54 BabySeq Category A gene;Expert Review Red BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal Pontocerebellar hypoplasia type 2A MIM#277470 20301773 False 1 0;0;100 1.116 True ENSG00000182173 ENSG00000182173 HGNC:27561 TSFM gene TSFM BabySeq Category C gene;Expert Review Red BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal Combined oxidative phosphorylation deficiency False 1 0;0;0 1.116 False ENSG00000123297 ENSG00000123297 HGNC:12367 TSPEAR gene TSPEAR BabySeq Category C gene;Expert Review Red BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal Sensorineural deafness False 1 0;0;0 1.116 False ENSG00000175894 ENSG00000175894 HGNC:1268 TSPYL1 gene TSPYL1 BabySeq Category C gene;Expert Review Red BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal Sudden infant death with dysgenesis of the testes syndrome False 1 0;0;0 1.116 False ENSG00000189241 ENSG00000189241 HGNC:12382 TSR2 gene TSR2 BeginNGS;Expert Review Red BabyScreen+ newborn screening Screening X-LINKED: hemizygous mutation in males, biallelic mutations in females Diamond-Blackfan anaemia 14 with mandibulofacial dysostosis, MIM# 300946 24942156;11424144 False 1 0;0;100 1.116 True ENSG00000158526 ENSG00000158526 HGNC:25455 TTC21B gene TTC21B BabySeq Category C gene;Expert Review Red BabyScreen+ newborn screening Screening BOTH monoallelic and biallelic, autosomal or pseudoautosomal Short-rib thoracic dysplasia 4 with or without polydactyly, MIM# 613819;Nephronophthisis 12, MIM# 613820 25492405;33875766;18327258;21258341;33547761 False 1 0;0;100 1.116 True ENSG00000123607 ENSG00000123607 HGNC:25660 TTC37 gene TTC37 BabySeq Category A gene;Expert Review Red BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal Trichohepatoenteric syndrome 1, MIM#222470 29527791;29334452 False 1 0;0;100 1.116 True ENSG00000198677 ENSG00000198677 HGNC:23639 TTC7A gene TTC7A BabySeq Category A gene;BeginNGS;Expert Review Red BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal Immunodeficiency, combined, with intestinal atresias, MIM#243150 30553809;34975848;33746097 False 1 0;50;50 1.116 True ENSG00000068724 ENSG00000068724 HGNC:19750 TTR gene TTR BabySeq Category A gene;Expert Review Red BabyScreen+ newborn screening Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Amyloidosis, hereditary, transthyretin-related MIM#105210 20301373;3032328;29972753;29972757 False 1 0;0;100 1.116 True ENSG00000118271 ENSG00000118271 HGNC:12405 TUBA8 gene TUBA8 BabySeq Category C gene;Expert Review Red BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal Polymicrogyria with optic nerve hypoplasia False 1 0;0;0 1.116 False ENSG00000183785 ENSG00000183785 HGNC:12410 TUBB4B gene TUBB4B Expert list;Expert Review Red BabyScreen+ newborn screening Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted "Leber congenital amaurosis with early-onset deafness MIM#617879" PMID: 29198720, 35240325 False 1 0;0;100 1.116 True ENSG00000188229 ENSG00000188229 HGNC:20771 TWIST1 gene TWIST1 BabySeq Category A gene;Expert Review Red BabyScreen+ newborn screening Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Craniosynostosis 1, MIM# 123100;Saethre-Chotzen syndrome with or without eyelid anomalies, MIM# 101400;Sweeny-Cox syndrome, MIM# 617746;Robinow-Sorauf syndrome, MIM# 180750 32487807;32909287;20301368 False 1 0;50;50 1.116 True ENSG00000122691 ENSG00000122691 HGNC:12428 TWNK gene TWNK BabySeq Category A gene;Expert Review Red BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal Mitochondrial DNA depletion syndrome 7 (hepatocerebral type) 271245 16135556;19304794;17921179;27551684;12872260;31823625 False 1 0;0;100 1.116 True ENSG00000107815 ENSG00000107815 HGNC:1160 TYMP gene TYMP BabySeq Category A gene;Expert Review Red BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal Mitochondrial DNA depletion syndrome 1 (MNGIE type) MIM#603041 33825174;20301358;32980811;26264513;19371766 False 1 0;0;100 1.116 True ENSG00000025708 ENSG00000025708 HGNC:3148 TYR gene TYR BabySeq Category A gene;Expert Review Red BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal Oculocutaneous albinism type 1 MIM## 203100, # 606952 17980020;33599182 False 1 0;50;50 1.116 True ENSG00000077498 ENSG00000077498 HGNC:12442 UBA1 gene UBA1 BabySeq Category C gene;Expert Review Red BabyScreen+ newborn screening Screening X-LINKED: hemizygous mutation in males, biallelic mutations in females Spinal muscular atrophy, X-linked infantile False 1 0;0;0 1.116 False ENSG00000130985 ENSG00000130985 HGNC:12469 UBR1 gene UBR1 BabySeq Category A gene;Expert Review Red BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal Johanson-Blizzard syndrome MIM#243800 24599544 False 1 0;0;100 1.116 True ENSG00000159459 ENSG00000159459 HGNC:16808 UCP2 gene UCP2 BabySeq Category C gene;BeginNGS;Expert Review Red BabyScreen+ newborn screening Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Hyperinsulinism, ORPHA:276556;Hyperinsulinism 28681398;27967291 False 1 0;0;100 1.116 True ENSG00000175567 ENSG00000175567 HGNC:12518 UGT1A4 gene UGT1A4 BabySeq Category C gene;Expert Review Red BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal Crigler-Najjar syndrome False 1 0;0;0 1.116 False ENSG00000244474 ENSG00000244474 HGNC:12536 UGT1A5 gene UGT1A5 BabySeq Category C gene;Expert Review Red BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal UDP glucuronosyltransferase deficiency False 1 0;0;0 1.116 False ENSG00000240224 ENSG00000240224 HGNC:12537 UMOD gene UMOD BabySeq Category A gene;Expert Review Red BabyScreen+ newborn screening Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Tubulointerstitial kidney disease MIM#162000 20301530 False 1 0;0;100 1.116 True ENSG00000169344 ENSG00000169344 HGNC:12559 UQCRB gene UQCRB BabySeq Category C gene;Expert Review Red BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex III deficiency False 1 0;0;0 1.116 False ENSG00000156467 ENSG00000156467 HGNC:12582 UQCRQ gene UQCRQ BabySeq Category C gene;Expert Review Red BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex III deficiency False 1 0;0;0 1.116 False ENSG00000164405 ENSG00000164405 HGNC:29594 UROD gene UROD BabySeq Category A gene;Expert Review Red BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal Porphyria, hepatoerythropoietic MIM#176100 24175354;17360334 False 1 33;33;33 1.116 True ENSG00000126088 ENSG00000126088 HGNC:12591 UTP4 gene UTP4 BabySeq Category C gene;Expert Review Red BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal North American Indian childhood cirrhosis False 1 0;0;0 1.116 False ENSG00000141076 ENSG00000141076 HGNC:1983 VCAN gene VCAN BabySeq Category A gene;Expert Review Red BabyScreen+ newborn screening Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Wagner syndrome MIM#143200 16043844;20301747 False 1 50;0;50 1.116 True ENSG00000038427 ENSG00000038427 HGNC:2464 VCP gene VCP BabySeq Category A gene;Expert Review Red BabyScreen+ newborn screening Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Inclusion body myopathy with early-onset Paget disease and frontotemporal dementia MIM#167320;Charcot-Marie-Tooth disease, type 2Y, MIM# 616687 16247064;21145000 False 1 0;0;100 1.116 True ENSG00000165280 ENSG00000165280 HGNC:12666 VIPAS39 gene VIPAS39 BabySeq Category A gene;Expert Review Red BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal Arthrogryposis, renal dysfunction, and cholestasis MIM#613404 35761207 False 1 0;50;50 1.116 True ENSG00000151445 ENSG00000151445 HGNC:20347 VLDLR gene VLDLR BabySeq Category A gene;Expert Review Red BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal Cerebellar hypoplasia and mental retardation with or without quadrupedal locomotion MIM#224050 False 1 0;0;100 1.116 True ENSG00000147852 ENSG00000147852 HGNC:12698 VPS13A gene VPS13A BabySeq Category A gene;Expert Review Red BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal Choreoacanthocytosis MIM#200150 False 1 0;0;100 1.116 True ENSG00000197969 ENSG00000197969 HGNC:1908 VPS13B gene VPS13B BabySeq Category A gene;Expert Review Red BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal Cohen syndrome MIM#216550 False 1 0;0;100 1.116 True ENSG00000132549 ENSG00000132549 HGNC:2183 VPS33B gene VPS33B BabySeq Category A gene;Expert Review Red BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal Arthrogryposis, renal dysfunction, and cholestasis MIM#208085 15052268;15052268;18853461 False 1 0;0;100 1.116 True ENSG00000184056 ENSG00000184056 HGNC:12712 VPS53 gene VPS53 BabySeq Category C gene;Expert Review Red BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal Progressive cerebello-cerebral atrophy False 1 0;0;0 1.116 False ENSG00000141252 ENSG00000141252 HGNC:25608 VSX1 gene VSX1 BabySeq Category C gene;Expert Review Red BabyScreen+ newborn screening Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Keratoconus False 1 0;0;0 1.116 False ENSG00000100987 ENSG00000100987 HGNC:12723 WDR19 gene WDR19 BabySeq Category C gene;Expert Review Red BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal Nephronophthisis False 1 0;0;0 1.116 False ENSG00000157796 ENSG00000157796 HGNC:18340 WDR35 gene WDR35 BabySeq Category C gene;Expert Review Red BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal Cranioectodermal dysplasia False 1 0;0;0 1.116 False ENSG00000118965 ENSG00000118965 HGNC:29250 WDR36 gene WDR36 BabySeq Category C gene;Expert Review Red BabyScreen+ newborn screening Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Glaucoma False 1 0;0;0 1.116 False ENSG00000134987 ENSG00000134987 HGNC:30696 WDR62 gene WDR62 BabySeq Category A gene;Expert Review Red BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal Microcephaly 2, primary, autosomal recessive, with or without cortical malformations MIM#604317 35188728 False 1 0;0;100 1.116 True ENSG00000075702 ENSG00000075702 HGNC:24502 WFS1 gene WFS1 BabySeq Category A gene;Expert Review Red BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal Wolfram syndrome MIM#222300 20301750;11317350;20738327;31337416 False 1 0;0;100 1.116 True ENSG00000109501 ENSG00000109501 HGNC:12762 WNT3 gene WNT3 BabySeq Category C gene;Expert Review Red BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal Tetra-amelia, autosomal recessive False 1 0;0;0 1.116 False ENSG00000108379 ENSG00000108379 HGNC:12782 WNT5A gene WNT5A BabySeq Category C gene;Expert Review Red BabyScreen+ newborn screening Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Robinow syndrome False 1 0;0;0 1.116 False ENSG00000114251 ENSG00000114251 HGNC:12784 WNT7A gene WNT7A BabySeq Category C gene;Expert Review Red BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal Ulna and fibula absence of with severe limb deficiency False 1 0;0;0 1.116 False ENSG00000154764 ENSG00000154764 HGNC:12786 WRAP53 gene WRAP53 BabySeq Category C gene;Expert Review Red BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal Dyskeratosis congenita, autosomal recessive 3, MIM# 613988 32303682;21205863;29514627 False 1 0;0;100 1.116 True ENSG00000141499 ENSG00000141499 HGNC:25522 WRN gene WRN BabySeq Category A gene;Expert Review Red BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal Werner syndrome MIM#277700 20301687 False 1 0;0;100 1.116 True ENSG00000165392 ENSG00000165392 HGNC:12791 YARS2 gene YARS2 BabySeq Category C gene;Expert Review Red BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal Myopathy, lactic acidosis, and sideroblastic anemia False 1 0;0;0 1.116 False ENSG00000139131 ENSG00000139131 HGNC:24249 ZEB2 gene ZEB2 BabySeq Category A gene;Expert Review Red BabyScreen+ newborn screening Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Mowat-Wilson syndrome MIM# 235730 20301585 False 1 0;0;100 1.116 True ENSG00000169554 ENSG00000169554 HGNC:14881 ZFPM2 gene ZFPM2 BabySeq Category C gene;Expert Review Red BabyScreen+ newborn screening Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Tetralogy of Fallot False 1 0;0;0 1.116 False ENSG00000169946 ENSG00000169946 HGNC:16700 ZIC2 gene ZIC2 BabySeq Category A gene;Expert Review Red BabyScreen+ newborn screening Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Holoprosencephaly MIM#603073 29442327 False 1 0;0;100 1.116 True ENSG00000043355 ENSG00000043355 HGNC:12873 ZIC3 gene ZIC3 BabySeq Category A gene;Expert Review Red BabyScreen+ newborn screening Screening X-LINKED: hemizygous mutation in males, biallelic mutations in females X linked heterotaxy and congenital heart defects MIM:306955 29442328;27406248 False 1 0;0;100 1.116 True ENSG00000156925 ENSG00000156925 HGNC:12874 ZMPSTE24 gene ZMPSTE24 BabySeq Category A gene;Expert Review Red BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal Restrictive dermopathy 1, MIM# MIM:275210 28050601 False 1 0;50;50 1.116 True ENSG00000084073 ENSG00000084073 HGNC:12877 ZNF143 gene ZNF143 Expert list;Expert Review Red BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal Combined methylmalonic acidemia and homocystinuria, cblX like 1 PMID: 20301503, PMID: 27349184 False 1 0;0;100 1.116 True ENSG00000166478 ENSG00000166478 HGNC:12928 ZNF252P gene ZNF252P BabySeq Category C gene;Expert Review Red BabyScreen+ newborn screening Screening MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Hypothyroidism False 1 0;0;0 1.116 False ENSG00000196922 ENSG00000196922 HGNC:13046 ZNF469 gene ZNF469 BabySeq Category A gene;Expert Review Red BabyScreen+ newborn screening Screening BIALLELIC, autosomal or pseudoautosomal Brittle cornea syndrome MIM#229200 31496642 False 1 0;0;100 1.116 True ENSG00000225614 ENSG00000225614 HGNC:23216 ZNF674 gene ZNF674 BabySeq Category C gene;Expert Review Red BabyScreen+ newborn screening Screening X-LINKED: hemizygous mutation in males, biallelic mutations in females Mental retardation False 1 0;0;0 1.116 False ENSG00000251192 ENSG00000251192 HGNC:17625