BabyScreen+ newborn screening (Version 1.116)

List	Entity	Reviews	Mode of inheritance	Details
Filter Entities 1722 Entitiess
Green Green List (high evidence)	AAAS	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Green Phenotypes Achalasia-addisonianism-alacrimia syndrome, MIM#231550 Tags endocrine treatable
Green Green List (high evidence)	ABCC6	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene BeginNGS Expert Review Green Phenotypes Arterial calcification, generalized, of infancy, 2, #MIM614473 Tags for review treatable
Green Green List (high evidence)	ABCC8	2 reviews 2 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources BabySeq Category A gene BeginNGS Expert Review Green Phenotypes Hyperinsulinemic hypoglycemia, familial, MIM#256450 Tags endocrine treatable
Green Green List (high evidence)	ABCD1	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources BabySeq Category A gene Expert Review Green Phenotypes Adrenoleukodystrophy, MIM# 300100 Tags metabolic treatable
Green Green List (high evidence)	ABCD4	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category C gene BeginNGS Expert Review Green Phenotypes Methylmalonic aciduria and homocystinuria, cblJ type MIM#614857 Tags metabolic treatable
Green Green List (high evidence)	ABCG5	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Green Phenotypes Sitosterolaemia 2, MIM# 618666 Tags clinical trial metabolic treatable
Green Green List (high evidence)	ACAD9	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene BeginNGS Expert Review Green Phenotypes Mitochondrial complex I deficiency, nuclear type 20, MIM#611126 Tags metabolic treatable
Green Green List (high evidence)	ACADM	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene BeginNGS Expert Review Green Phenotypes Medium chain acyl CoA dehydrogenase deficiency, MIM#201450 Tags metabolic treatable
Green Green List (high evidence)	ACADVL	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene BeginNGS Expert Review Green Phenotypes VLCAD deficiency, MIM#201475 Tags metabolic treatable
Green Green List (high evidence)	ACAT1	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene BeginNGS Expert Review Green Phenotypes Alpha-methylacetoacetic aciduria, MIM#203750 Tags metabolic treatable
Green Green List (high evidence)	ACTA2	2 reviews 2 green	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Sources BabySeq Category B gene Expert Review Green Phenotypes Aortic aneurysm, familial thoracic 6, MIM# 611788 Tags cardiac treatable
Green Green List (high evidence)	ACVRL1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category A gene BeginNGS Expert Review Green Phenotypes Telangiectasia, hereditary hemorrhagic, type 2, MIM#600376 Tags treatable vascular
Green Green List (high evidence)	ADA	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene BeginNGS Expert Review Green Phenotypes Severe combined immunodeficiency due to ADA deficiency, MIM# 102700, MONDO:0007064 Tags clinical trial immunological treatable
Green Green List (high evidence)	ADA2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Vasculitis, autoinflammation, immunodeficiency, and haematologic defects syndrome, MIM# 615688 Tags immunological treatable
Green Green List (high evidence)	ADAMTS13	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene BeginNGS Expert Review Green Phenotypes Thrombotic thrombocytopenic purpura, familial, MIM#274150 Tags haematological treatable
Green Green List (high evidence)	ADGRV1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Usher syndrome, type 2C, MIM# 605472 Tags deafness
Green Green List (high evidence)	AGL	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene BeginNGS Expert Review Green Phenotypes Glycogen storage disease IIIa, MIM#232400 Tags metabolic treatable
Green Green List (high evidence)	AGRN	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene BeginNGS Expert Review Green Phenotypes Myasthenic syndrome, congenital, 8, with pre- and postsynaptic defects, MIM# 615120 Tags clinical trial neurological treatable
Green Green List (high evidence)	AGXT	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Green Phenotypes Hyperoxaluria, primary, type 1, MIM# 259900, MONDO:0009823 Tags clinical trial metabolic treatable
Green Green List (high evidence)	AHCY	3 reviews 2 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources BeginNGS Expert Review Green Phenotypes Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase, MIM# 613752 Tags metabolic treatable
Green Green List (high evidence)	AICDA	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Expert Review Green Phenotypes Immunodeficiency with hyper-IgM, type 2, MIM# 605258 Tags immunological treatable
Green Green List (high evidence)	AIRE	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Green Phenotypes Autoimmune polyendocrinopathy syndrome , type I, with or without reversible metaphyseal dysplasia, MIM#240300 Tags endocrine treatable
Green Green List (high evidence)	AK2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BeginNGS Expert Review Green Phenotypes Reticular dysgenesis, MIM# 267500 MONDO:0009973 Tags haematological treatable
Green Green List (high evidence)	AKR1D1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Green Phenotypes Bile acid synthesis defect, congenital, 2 Tags GI treatable
Green Green List (high evidence)	ALDH4A1	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category C gene Expert Review Green Phenotypes Hyperprolinemia, type II MIM#239510 Tags metabolic treatable
Green Green List (high evidence)	ALDH7A1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BeginNGS Expert list Expert Review Green Phenotypes Epilepsy, pyridoxine-dependent, MIM# 266100 Tags metabolic treatable
Green Green List (high evidence)	ALDOB	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene BeginNGS Expert Review Green Phenotypes Fructose intolerance, hereditary, MIM# 229600 Tags metabolic treatable
Green Green List (high evidence)	ALPL	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene BeginNGS Expert Review Green Phenotypes Hypophosphatasia, childhood OMIM#241510 Hypophosphatasia, infantile OMIM#241500 Tags skeletal treatable
Green Green List (high evidence)	AMACR	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category C gene Expert Review Green Phenotypes Bile acid synthesis defect, congenital, 4, MIM# 214950 Tags liver treatable
Green Green List (high evidence)	AMN	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene BeginNGS Expert Review Green Phenotypes Megaloblastic anemia-1, Norwegian type, MIM#618882 Tags haematological treatable
Green Green List (high evidence)	AP3B1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Green Phenotypes Hermansky-Pudlak syndrome 2, MIM# 608233 MONDO:0011997 Tags clinical trial haematological treatable
Green Green List (high evidence)	AQP2	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources BeginNGS Expert Review Green Phenotypes Diabetes insipidus, nephrogenic, 2, MIM#125800 Tags clinical trial endocrine treatable
Green Green List (high evidence)	ARG1	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene BeginNGS Expert Review Green Phenotypes Arginase deficiency, MIM#207800 Tags metabolic treatable
Green Green List (high evidence)	ARPC1B	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BeginNGS Expert Review Green Phenotypes Immunodeficiency 71 with inflammatory disease and congenital thrombocytopenia, MIM#617718 Tags immunological treatable
Green Green List (high evidence)	ARSA	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Green Phenotypes Metachromatic leukodystrophy, MIM# 250100 Tags clinical trial metabolic treatable
Green Green List (high evidence)	ARSB	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Green Phenotypes Mucopolysaccharidosis VI (MPS6, MIM# 253200 Tags clinical trial metabolic treatable
Green Green List (high evidence)	ASL	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene BeginNGS Expert Review Green Phenotypes Argininosuccinic aciduria, MIM#207900 Tags metabolic treatable
Green Green List (high evidence)	ASS1	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene BeginNGS Expert Review Green Phenotypes Citrullinaemia, MIM#215700 Tags metabolic treatable
Green Green List (high evidence)	ATP6V0A4	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BeginNGS Expert Review Green Phenotypes Distal renal tubular acidosis 3, with or without sensorineural hearing loss, MIM3 602722 Tags renal treatable
Green Green List (high evidence)	ATP6V1B1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene BeginNGS Expert Review Green Phenotypes Distal renal tubular acidosis 2 with progressive sensorineural hearing loss, MIM# 267300 Tags renal treatable
Green Green List (high evidence)	ATP7A	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources BabySeq Category A gene BabySeq Category C gene Expert Review Green Phenotypes Menkes disease, MIM# 309400 Tags metabolic treatable
Green Green List (high evidence)	ATP7B	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Green Phenotypes Wilson disease MIM#277900 Tags metabolic treatable
Green Green List (high evidence)	AVP	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Expert Review Green Phenotypes Diabetes insipidus, neurohypophyseal MIM#125700 Tags clinical trial endocrine treatable
Green Green List (high evidence)	AVPR2	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources BabySeq Category A gene BeginNGS Expert Review Green Phenotypes Diabetes insipidus, nephrogenic, MIM#304800 Tags clinical trial endocrine SV/CNV treatable
Green Green List (high evidence)	BCHE	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Butyrylcholinesterase deficiency, MIM# 617936 Tags pharmacogenomic
Green Green List (high evidence)	BCKDHA	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Green Phenotypes Maple syrup urine disease, type Ia, MIM# 248600 Tags metabolic treatable
Green Green List (high evidence)	BCKDHB	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Green Phenotypes Maple syrup urine disease, type Ib, MIM# 248600 Tags metabolic treatable
Green Green List (high evidence)	BCKDK	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources BeginNGS Expert Review Green Phenotypes Branched-chain keto acid dehydrogenase kinase deficiency, MIM# 614923 Tags metabolic treatable
Green Green List (high evidence)	BLNK	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BeginNGS Expert Review Green Phenotypes Agammaglobulinaemia 4, MIM#613502 Tags immunological treatable
Green Green List (high evidence)	BMP1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Osteogenesis imperfecta, type XIII , MIM#614856 Tags skeletal
Green Green List (high evidence)	BRCA1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category C gene Expert Review Green Phenotypes Fanconi anemia, complementation group S, MIM# 617883 Tags haematological treatable
Green Green List (high evidence)	BRCA2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene BabySeq Category C gene BeginNGS Expert Review Green Phenotypes Fanconi anaemia, complementation group D1, MIM# 605724 Tags haematological treatable
Green Green List (high evidence)	BRIP1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BeginNGS Expert Review Green Phenotypes Fanconi anaemia, complementation group J, MIM# 609054 Tags haematological treatable
Green Green List (high evidence)	BSCL2	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene BabySeq Category C gene Expert Review Green Phenotypes Lipodystrophy, congenital generalized, type 2, MIM# 269700 Berardinelli-Seip lipodystrophy Tags endocrine treatable
Green Green List (high evidence)	BSND	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Green Phenotypes Bartter syndrome, type 4a, MIM# 602522 Tags renal treatable
Green Green List (high evidence)	BTD	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene BeginNGS Expert Review Green Phenotypes Biotinidase deficiency, MIM#253260 Tags metabolic treatable
Green Green List (high evidence)	BTK	2 reviews 2 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources BabySeq Category A gene BeginNGS Expert Review Green Phenotypes Agammaglobulinemia, X-linked 1, MIM#300755 Tags immunological treatable
Green Green List (high evidence)	C17orf62	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Expert Review Green Phenotypes Chronic granulomatous disease 5, autosomal recessive, MIM# 618935 Tags immunological new gene name treatable
Green Green List (high evidence)	C2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes C2 deficiency, MIM# 217000 Tags immunological treatable
Green Green List (high evidence)	C3	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category C gene BeginNGS Expert Review Green Phenotypes C3 deficiency, MIM# 613779 Tags immunological treatable
Green Green List (high evidence)	C5	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BeginNGS Expert Review Green Phenotypes C5 deficiency, MIM# 609536 Tags immunological treatable
Green Green List (high evidence)	C6	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BeginNGS Expert Review Green Phenotypes C6 deficiency, MIM# 612446 Tags immunological treatable
Green Green List (high evidence)	C7	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BeginNGS Expert Review Green Phenotypes C7 deficiency, MIM# 610102 Tags immunological treatable
Green Green List (high evidence)	C8B	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BeginNGS Expert Review Green Phenotypes C8 deficiency, type II, MIM# 613789 Tags immunological treatable
Green Green List (high evidence)	C9	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BeginNGS Expert Review Green Phenotypes C9 deficiency, MIM# 613825 Tags immunological treatable
Green Green List (high evidence)	CA12	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Expert Review Green Phenotypes Hyperchlorhidrosis, isolated MIM#143860 Tags metabolic treatable
Green Green List (high evidence)	CA2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Green Phenotypes Osteopetrosis, autosomal recessive 3, with renal tubular acidosis, MIM#259730 Tags skeletal treatable
Green Green List (high evidence)	CA5A	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources BeginNGS Expert Review Green Phenotypes Hyperammonaemia due to carbonic anhydrase VA deficiency, MIM# 615751 Tags metabolic treatable
Green Green List (high evidence)	CABP2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Deafness, autosomal recessive 93, MIM# 614899 Tags deafness
Green Green List (high evidence)	CACNA1S	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category C gene Expert Review Green Phenotypes Malignant hyperthermia susceptibility 5, MIM# 601887 Tags pharmacogenomic
Green Green List (high evidence)	CAD	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Developmental and epileptic encephalopathy 50, MIM# 616457 Tags metabolic treatable
Green Green List (high evidence)	CALM3	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources ClinGen Expert Review Green Phenotypes Long QT syndrome 16, MIM#618782 Tags cardiac treatable
Green Green List (high evidence)	CARD11	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Immunodeficiency 11A, autosomal recessive, MIM# 615206 Immunodeficiency 11B with atopic dermatitis, autosomal dominant, MIM# 617638 Tags immunological treatable
Green Green List (high evidence)	CASR	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources BeginNGS Expert Review Green Phenotypes Hypocalcemia, autosomal dominant MIM#601198 Hyperparathyroidism, neonatal MIM#239200 Tags endocrine treatable
Green Green List (high evidence)	CAV1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Lipodystrophy, congenital generalized, type 3, MIM# 612526 Tags metabolic treatable
Green Green List (high evidence)	CAVIN1	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Green Phenotypes Lipodystrophy, congenital generalized, type 4, MIM# 613327 Tags endocrine treatable
Green Green List (high evidence)	CBS	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Green Phenotypes Homocystinuria (MIM# 236200) Tags for review treatable
Green Green List (high evidence)	CD19	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Immunodeficiency, common variable, 3, MIM# 613493 Tags immunological treatable
Green Green List (high evidence)	CD247	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Expert Review Green Phenotypes Immunodeficiency 25, MIM# 610163 Tags immunological treatable
Green Green List (high evidence)	CD27	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes CD27-deficiency MIM# 615122 Tags immunological treatable
Green Green List (high evidence)	CD3D	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BeginNGS Expert list Expert Review Green Phenotypes Immunodeficiency 19, MIM# 615617 Tags immunological treatable
Green Green List (high evidence)	CD3E	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BeginNGS Expert Review Green Phenotypes Immunodeficiency 18, MIM# 615615 Tags immunological treatable
Green Green List (high evidence)	CD3G	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Immunodeficiency 17 CD3 gamma deficient MIM# 615607 Tags immunological treatable
Green Green List (high evidence)	CD40	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Immunodeficiency with hyper-IgM, type 3, MIM# 606843 Tags immunological treatable
Green Green List (high evidence)	CD40LG	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources BabySeq Category A gene Expert Review Green Phenotypes Immunodeficiency, X-linked, with hyper-IgM MIM# 308230 Tags immunological treatable
Green Green List (high evidence)	CD55	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Expert Review Green Phenotypes Complement hyperactivation, angiopathic thrombosis, and protein-losing enteropathy, MIM# 226300 Tags immunological treatable
Green Green List (high evidence)	CD70	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Expert Review Green Phenotypes Lymphoproliferative syndrome 3, MIM# 618261 Tags immunological treatable
Green Green List (high evidence)	CD79A	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BeginNGS Expert Review Green Phenotypes Agammaglobulinaemia 3, MIM# 613501 Tags immunological treatable
Green Green List (high evidence)	CD79B	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BeginNGS Expert Review Green Phenotypes Agammaglobulinaemia 6, MIM# 612692 Tags immunological treatable
Green Green List (high evidence)	CDC14A	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Deafness, autosomal recessive 32, with or without immotile sperm, MIM# 608653 Tags deafness
Green Green List (high evidence)	CDCA7	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Expert Review Green Phenotypes Immunodeficiency-centromeric instability-facial anomalies syndrome 3, MIM# 616910 Tags immunological treatable
Green Green List (high evidence)	CDCA8	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Congenital hypothyroidism, MONDO:0018612, CDCA8-related Tags endocrine treatable
Green Green List (high evidence)	CDH23	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Green Phenotypes Usher syndrome, type 1D (MIM# 601067) Deafness, autosomal recessive 12 (MIM # 601386) Usher syndrome, type 1D/F digenic (MIM #601067) Tags deafness
Green Green List (high evidence)	CDKN1C	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed)	Sources BabySeq Category A gene BeginNGS Expert Review Green Phenotypes IMAGe syndrome, MIM# 614732 Tags endocrine treatable
Green Green List (high evidence)	CEBPE	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Expert Review Green Phenotypes Specific granule deficiency, MIM# 245480 Tags immunological treatable
Green Green List (high evidence)	CFD	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category C gene BeginNGS Expert Review Green Phenotypes Complement factor D deficiency, MIM# 613912 Tags immunological treatable
Green Green List (high evidence)	CFH	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category C gene Expert Review Green Phenotypes Complement factor H deficiency, MIM# 609814 Tags immunological treatable
Green Green List (high evidence)	CFI	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category C gene Expert Review Green Phenotypes Complement factor I deficiency MIM#610984 Tags
Green Green List (high evidence)	CFP	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources BabySeq Category A gene BeginNGS Expert Review Green Phenotypes Properdin deficiency, X-linked, MIM#312060 Tags immunological treatable
Green Green List (high evidence)	CFTR	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene BeginNGS Expert Review Green Phenotypes Cystic fibrosis, MIM#219700 Tags respiratory treatable
Green Green List (high evidence)	CHAT	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources BeginNGS:BabySeq Category A gene Expert Review Green Phenotypes Congenital myasthenic syndrome, MIM#254210 Tags neurological treatable
Green Green List (high evidence)	CHRNA1	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene BeginNGS Expert Review Green Phenotypes Myasthenic syndrome, congenital, 1A, slow-channel, MIM# 601462 Myasthenic syndrome, congenital, 1B, fast-channel , MIM#608930 Tags neurological treatable
Green Green List (high evidence)	CHRNB1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category C gene BeginNGS Expert Review Green Phenotypes Myasthenic syndrome, congenital, 2C, associated with acetylcholine receptor deficiency, MIM# 616314 Congenital myasthenic syndrome Tags neurological treatable
Green Green List (high evidence)	CHRND	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene BeginNGS Expert Review Green Phenotypes 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 Tags neurological treatable
Green Green List (high evidence)	CHRNE	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene BeginNGS Expert Review Green Phenotypes 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 Tags neurological treatable
Green Green List (high evidence)	CIB2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Deafness, autosomal recessive 48, MIM# 609439 Tags deafness
Green Green List (high evidence)	CIITA	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Expert Review Green Phenotypes Bare Lymphocyte Syndrome, type II, complementation group A MIM# 209920 Tags immunological treatable
Green Green List (high evidence)	CLCN7	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category C gene BeginNGS Expert Review Green Phenotypes Osteopetrosis, autosomal recessive 4, MIM# 611490 Tags skeletal treatable
Green Green List (high evidence)	CLDN14	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Green Phenotypes Deafness, autosomal recessive 29, MIM# 614035 Tags deafness
Green Green List (high evidence)	CLPP	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category C gene Expert Review Green Phenotypes Perrault syndrome 3, MIM# 614129 Tags metabolic treatable
Green Green List (high evidence)	COCH	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Green Phenotypes Deafness, autosomal recessive 110, MIM# 618094 Tags deafness
Green Green List (high evidence)	COL11A1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category A gene Expert Review Green Phenotypes Stickler syndrome, type II, MIM# 604841 Tags ophthalmological treatable
Green Green List (high evidence)	COL11A2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Green Phenotypes Deafness, autosomal recessive 53, MIM# 609706 Tags deafness
Green Green List (high evidence)	COL13A1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BeginNGS Expert Review Green Phenotypes Myasthenic syndrome, congenital, 19, MIM# 616720 Tags neurological treatable
Green Green List (high evidence)	COL1A1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category A gene BabySeq Category C gene Expert Review Green Phenotypes Osteogenesis imperfecta, type I, MIM#166200 Tags skeletal treatable
Green Green List (high evidence)	COL1A2	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category A gene Expert Review Green Phenotypes Osteogenesis imperfecta, type II , MIM#166210 Tags skeletal treatable
Green Green List (high evidence)	COL2A1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category A gene Expert Review Green Phenotypes Stickler syndrome, type I, MIM# 108300 Tags ophthalmological treatable
Green Green List (high evidence)	COL4A3	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Green Phenotypes Alport syndrome 2, autosomal recessive, MIM# 203780 Tags renal treatable
Green Green List (high evidence)	COL4A4	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Green Phenotypes Alport syndrome 2, autosomal recessive MIM#203780 Tags renal treatable
Green Green List (high evidence)	COL4A5	1 review 1 green	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources BabySeq Category A gene Expert Review Green Phenotypes Alport syndrome 1, X-linked, MIM# 301050 Tags renal treatable
Green Green List (high evidence)	COL9A1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category C gene Expert Review Green Phenotypes Stickler syndrome, type IV, MIM#614134 Tags ophthalmological treatable
Green Green List (high evidence)	COL9A2	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category C gene Expert Review Green Phenotypes Stickler syndrome, type V, MIM# 614284 Tags ophthalmological treatable
Green Green List (high evidence)	COL9A3	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Stickler syndrome, type VI, MIM# 620022 Tags for review
Green Green List (high evidence)	COLQ	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene BeginNGS Expert Review Green Phenotypes Congenital myasthenic syndrome, MIM#603034 Tags clinical trial neurological treatable
Green Green List (high evidence)	COQ2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category C gene BeginNGS Expert Review Green Phenotypes Coenzyme Q10 deficiency, primary, 1, MIM# 607426 Tags metabolic treatable
Green Green List (high evidence)	COQ4	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BeginNGS Expert Review Green Phenotypes Coenzyme Q10 deficiency, primary, 7, MIM# 616276 Tags metabolic treatable
Green Green List (high evidence)	COQ6	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category C gene BeginNGS Expert Review Green Phenotypes Coenzyme Q10 deficiency, primary, 6, MIM# 614650 Tags metabolic treatable
Green Green List (high evidence)	COQ8A	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BeginNGS Expert Review Green Phenotypes Coenzyme Q10 deficiency, primary, 4, MIM# 612016 Tags metabolic treatable
Green Green List (high evidence)	CORO1A	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Immunodeficiency 8 MIM# 615401 Tags immunological technically challenging treatable
Green Green List (high evidence)	CPS1	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene BeginNGS Expert Review Green Phenotypes Carbamoylphosphate synthetase I deficiency, MIM#237300 Tags metabolic treatable
Green Green List (high evidence)	CPT1A	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene BeginNGS Expert Review Green Phenotypes Carnitine palmitoyltransferase I deficiency, MIM#255120 Tags metabolic treatable
Green Green List (high evidence)	CPT2	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Green Phenotypes CPT II deficiency, infantile 600649 CPT II deficiency, lethal neonatal 608836 CPT II deficiency, myopathic, stress-induced 255110 Tags metabolic treatable
Green Green List (high evidence)	CRTAP	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Green Phenotypes Osteogenesis imperfecta, type VII, MIM# MIM#610682 Tags skeletal treatable
Green Green List (high evidence)	CSF3R	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BeginNGS Expert Review Green Phenotypes Neutropenia, severe congenital, 7, autosomal recessive , MIM#617014 Tags immunological treatable
Green Green List (high evidence)	CTNS	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Green Phenotypes Cystinosis, nephropathic MIM#219800 Tags renal treatable
Green Green List (high evidence)	CTPS1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BeginNGS Expert Review Green Phenotypes Immunodeficiency 24, MIM# 615897 Tags immunological treatable
Green Green List (high evidence)	CUBN	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene BeginNGS Expert Review Green Phenotypes Megaloblastic anaemia-1, Finnish type, MIM#261100 Tags haematological treatable
Green Green List (high evidence)	CUL3	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Phenotypes Pseudohypoaldosteronism, type IIE 614496 Tags endocrine treatable
Green Green List (high evidence)	CXCR4	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BeginNGS Expert Review Green Phenotypes WHIM syndrome 1, MIM# 193670 Tags immunological treatable
Green Green List (high evidence)	CYB561	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Orthostatic hypotension 2, MIM# 618182 Tags endocrine treatable
Green Green List (high evidence)	CYBA	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene BeginNGS Expert Review Green Phenotypes Chronic granulomatous disease, MIM#233690 Tags immunological treatable
Green Green List (high evidence)	CYBB	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources BabySeq Category A gene BeginNGS Expert Review Green Phenotypes Chronic granulomatous disease, MIM#306400 Tags immunological treatable
Green Green List (high evidence)	CYP11A1	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene BeginNGS Expert Review Green Phenotypes Adrenal insufficiency, congenital, with 46XY sex reversal, partial or complete, MIM#613743 Tags endocrine treatable
Green Green List (high evidence)	CYP11B1	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene BeginNGS Expert Review Green Phenotypes Adrenal hyperplasia, congenital, due to 11-beta-hydroxylase deficiency, MIM#202010 Tags endocrine treatable
Green Green List (high evidence)	CYP11B2	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources BeginNGS Expert Review Green Phenotypes Hypoaldosteronism, congenital, due to CMO I deficiency, MIM# 203400 Hypoaldosteronism, congenital, due to CMO II deficiency, MIM# 610600 Tags endocrine treatable
Green Green List (high evidence)	CYP17A1	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources BeginNGS Expert Review Green Phenotypes 17,20-lyase deficiency, isolated , MIM#202110 Tags endocrine treatable
Green Green List (high evidence)	CYP21A2	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene BeginNGS Expert Review Green Phenotypes Adrenal hyperplasia, congenital, due to 21-hydroxylase deficiency, MIM#201910 Tags endocrine technically challenging treatable
Green Green List (high evidence)	CYP27A1	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Green Phenotypes Cerebrotendinous xanthomatosis, MIM# 213700 Tags metabolic treatable
Green Green List (high evidence)	CYP27B1	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Green Phenotypes Vitamin D-dependent rickets, type I MIM#264700 Tags endocrine treatable
Green Green List (high evidence)	CYP2R1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Expert Review Green Phenotypes Rickets due to defect in vitamin D 25-hydroxylation deficiency MIM#600081 Tags endocrine treatable
Green Green List (high evidence)	CYP7B1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category C gene Expert Review Green Phenotypes Bile acid synthesis defect, congenital, 3, MIM# 613812 Tags liver treatable
Green Green List (high evidence)	DBT	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene BeginNGS Expert Review Green Phenotypes Maple syrup urine disease, MIM#248600 Tags metabolic treatable
Green Green List (high evidence)	DCLRE1C	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene BeginNGS Expert Review Green Phenotypes Severe combined immunodeficiency, Athabascan type MIM# 602450 Omenn syndrome, MIM# 603554 Tags immunological treatable
Green Green List (high evidence)	DDC	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene BeginNGS Expert Review Green Phenotypes Aromatic L-amino acid decarboxylase deficiency, MIM#608643 Tags clinical trial metabolic treatable
Green Green List (high evidence)	DFNB59	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Green Phenotypes Deafness, autosomal recessive 59, MIM# 610220 Tags deafness new gene name
Green Green List (high evidence)	DGAT1	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources BeginNGS Expert Review Green Phenotypes Diarrhea 7, protein-losing enteropathy type , MIM# 615863 Tags gastrointestinal treatable
Green Green List (high evidence)	DHCR7	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Green Phenotypes Smith-Lemli-Opitz syndrome, MIM#270400 Tags metabolic
Green Green List (high evidence)	DHFR	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Expert Review Green Phenotypes Megaloblastic anaemia due to dihydrofolate reductase deficiency, MIM# 613839 Tags metabolic treatable
Green Green List (high evidence)	DICER1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources ClinGen Expert Review Green Phenotypes DICER1 syndrome, MONDO:0017288 Tags cancer treatable
Green Green List (high evidence)	DLAT	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Expert Review Green Phenotypes Pyruvate dehydrogenase E2 deficiency, MIM# 245348 Tags metabolic treatable
Green Green List (high evidence)	DMP1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Green Phenotypes Hypophosphatemic rickets MIM#241520 Tags skeletal treatable
Green Green List (high evidence)	DNAJC12	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Expert Review Green Phenotypes Hyperphenylalaninemia, mild, non-BH4-deficient, MIM#617384 Tags metabolic treatable
Green Green List (high evidence)	DNAJC21	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Expert Review Green Phenotypes Bone marrow failure syndrome 3, MIM# 617052 Tags haematological treatable
Green Green List (high evidence)	DNASE2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Expert Review Green Phenotypes Autoinflammatory-pancytopenia syndrome, MIM# 619858 Tags immunological treatable
Green Green List (high evidence)	DNMT3B	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Green Phenotypes Immunodeficiency-centromeric instability-facial anomalies syndrome 1, MIM# 242860 Tags immunological treatable
Green Green List (high evidence)	DOCK2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Expert Review Green Phenotypes Immunodeficiency 40 MIM# 616433 Tags immunological treatable
Green Green List (high evidence)	DOCK8	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene BegniNGS Expert Review Green Phenotypes Hyper-IgE syndrome, MIM#243700 Tags immunological treatable
Green Green List (high evidence)	DOK7	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene BeginNGS Expert Review Green Phenotypes Congenital myasthenic syndrome, MIM# 254300 Tags neurological treatable
Green Green List (high evidence)	DPAGT1	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene BeginNGS Expert Review Green Phenotypes Congenital disorder of glycosylation, type Ij, MIM# 608093 DPAGT1-CDG MONDO:0011964 Myasthenic syndrome, congenital, 13, with tubular aggregates, MIM# 614750 Tags neurological treatable
Green Green List (high evidence)	DUOX2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Green Phenotypes Thyroid dyshormonogenesis 6, MIM# 607200 Tags endocrine treatable
Green Green List (high evidence)	DUOXA2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category C gene Expert Review Green Phenotypes Thyroid dyshormonogenesis 5, MIM# 274900 Tags endocrine treatable
Green Green List (high evidence)	ECHS1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Mitochondrial short-chain enoyl-CoA hydratase 1 deficiency MIM# 616277 Tags metabolic treatable
Green Green List (high evidence)	EDN3	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category C gene Expert Review Green Phenotypes Waardenburg syndrome, type 4B, MIM# 613265 Tags deafness
Green Green List (high evidence)	EDNRB	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources BabySeq Category C gene Expert Review Green Phenotypes Waardenburg syndrome, type 4A, MIM# 277580 Tags deafness
Green Green List (high evidence)	EFL1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BeginNGS Expert Review Green Phenotypes Shwachman-Diamond syndrome 2, MIM# 617941 Tags gastrointestinal
Green Green List (high evidence)	EIF2AK3	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene BeginNGS Expert Review Green Phenotypes Wolcott-Rallison syndrome, MIM#226980 Tags endocrine treatable
Green Green List (high evidence)	ELANE	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category A gene BeginNGS Expert Review Green Phenotypes Neutropenia, congenital, MIM#202700 Tags immunological treatable
Green Green List (high evidence)	ENG	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category A gene Expert Review Green Phenotypes Telangiectasia, hereditary hemorrhagic, type 1 MIM#187300 Tags treatable vascular
Green Green List (high evidence)	ENPP1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Green Phenotypes Arterial calcification, generalized, of infancy, 1, MIM# 208000 Hypophosphatemic rickets, autosomal recessive, 2, MIM# 613312 Tags endocrine treatable vascular
Green Green List (high evidence)	EPS8	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Autosomal recessive nonsyndromic hearing loss 102, MIM#600205, MONDO:0014428 Tags deafness
Green Green List (high evidence)	ERCC4	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category C gene BeginNGS Expert Review Green Phenotypes Fanconi anemia, complementation group Q, MIM# 615272 Tags haematological treatable
Green Green List (high evidence)	ESPN	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category C gene Expert Review Green Phenotypes Deafness, autosomal recessive 36, MIM# 609006 Tags deafness
Green Green List (high evidence)	ESRRB	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Green Phenotypes Deafness, autosomal recessive 35, MIM#608565 Tags deafness
Green Green List (high evidence)	ETFA	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene BeginNGS Expert Review Green Phenotypes Glutaric acidaemia IIA, MIM#231680 Tags metabolic treatable
Green Green List (high evidence)	ETFB	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene BeginNGS Expert Review Green Phenotypes Glutaric acidemia IIB, MIM#231680 Tags metabolic treatable
Green Green List (high evidence)	ETFDH	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene BeginNGS Expert Review Green Phenotypes Glutaric acidemia IIC, MIM#231680 Tags metabolic treatable
Green Green List (high evidence)	ETHE1	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene BeginNGS Expert Review Green Phenotypes Ethylmalonic encephalopathy, MIM#602473 Tags metabolic treatable
Green Green List (high evidence)	F10	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Factor X deficiency, MIM# 227600 Tags haematological treatable
Green Green List (high evidence)	F13A1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BeginNGS Expert list Expert Review Green Phenotypes Factor XIIIA deficiency, MIM# 613225 Tags haematological treatable
Green Green List (high evidence)	F13B	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BeginNGS Expert list Expert Review Green Phenotypes Factor XIIIB deficiency, MIM#613235 Tags haematological treatable
Green Green List (high evidence)	F7	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Factor VII deficiency MIM# 227500 Tags haematological treatable
Green Green List (high evidence)	F9	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources BabySeq Category A gene BeginNGS Expert Review Green Phenotypes Haemophilia B, MIM#306900 Tags haematological treatable
Green Green List (high evidence)	FAH	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene BeginNGS Expert Review Green Phenotypes Tyrosinaemia, type I, MIM#276700 Tags metabolic treatable
Green Green List (high evidence)	FAM111A	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Expert Review Green Phenotypes Kenny-Caffey syndrome, type 2, MIM# 127000 Tags skeletal treatable
Green Green List (high evidence)	FANCA	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene BeginNGS Expert Review Green Phenotypes Fanconi anaemia, complementation group A, MIM# 227650 MONDO:0009215 Tags haematological treatable
Green Green List (high evidence)	FANCB	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources BabySeq Category A gene BeginNGS Expert Review Green Phenotypes Fanconi anaemia, complementation group B, MIM# 300514 Tags haematological treatable
Green Green List (high evidence)	FANCC	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene BeginNGS Expert Review Green Phenotypes Fanconi anemia, complementation group C, MIM# 227645 MONDO:0009213 Tags haematological treatable
Green Green List (high evidence)	FANCD2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene BeginNGS Expert Review Green Phenotypes Fanconi anaemia, complementation group D2, MIM# 227646 MONDO:0009214 Tags haematological treatable
Green Green List (high evidence)	FANCG	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Green Phenotypes Fanconi anaemia, MIM#614082 Tags haematological treatable
Green Green List (high evidence)	FANCI	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Green Phenotypes Fanconi anaemia, MIM#609053 Tags haematological treatable
Green Green List (high evidence)	FBN1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category A gene BabySeq Category C gene Expert Review Green Phenotypes Marfan syndrome, MIM# 154700 Tags cardiac treatable
Green Green List (high evidence)	FBP1	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources BeginNGS Expert list Expert Review Green Phenotypes Fructose-1,6-bisphosphatase deficiency MIM# 229700 Tags metabolic treatable
Green Green List (high evidence)	FCHO1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Immunodeficiency 76, MIM# 619164 Tags immunological treatable
Green Green List (high evidence)	FECH	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Protoporphyria, erythropoietic, 1, MIM# 177000 Tags haematological treatable
Green Green List (high evidence)	FERMT3	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BeginNGS Expert Review Green Phenotypes Leukocyte adhesion deficiency, type III, MIM# 612840 Tags immunological treatable
Green Green List (high evidence)	FGA	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Green Phenotypes Afibrinogenemia, congenital (MIM#202400) Tags haematological treatable
Green Green List (high evidence)	FGB	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Green Phenotypes Afibrinogenaemia, congenital, MIM# 202400 Tags haematological treatable
Green Green List (high evidence)	FGF23	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes autosomal dominant hypophosphatemic rickets MONDO:0008660 familial hyperphosphatemic tumoral calcinosis/hyperphosphatemic hyperostosis syndrome MONDO:0100251 Tags endocrine treatable
Green Green List (high evidence)	FGF3	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Green Phenotypes Deafness, congenital with inner ear agenesis, microtia, and microdontia, MIM# 610706 Tags deafness
Green Green List (high evidence)	FGFR3	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category A gene BabySeq Category C gene Expert Review Green Phenotypes Achondroplasia MONDO:0007037 Tags clinical trial for review skeletal treatable
Green Green List (high evidence)	FGG	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Green Phenotypes Afibrinogenemia, congenital, MIM# 202400 Tags haematological treatable
Green Green List (high evidence)	FH	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene BabySeq Category C gene Expert Review Green Phenotypes Fumurase deficiency MIM# 606812 Tags metabolic treatable
Green Green List (high evidence)	FKBP10	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Osteogenesis imperfecta, type XI, OMIM:610968 Tags skeletal treatable
Green Green List (high evidence)	FLAD1	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BeginNGS Expert Review Green Phenotypes Lipid storage myopathy due to flavin adenine dinucleotide synthetase deficiency, MIM# 255100 Tags metabolic treatable
Green Green List (high evidence)	FOLR1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Neurodegeneration due to cerebral folate transport deficiency, MIM# 613068 Tags metabolic treatable
Green Green List (high evidence)	FOXA2	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources BeginNGS Expert Review Green Phenotypes Hyperinsulinism MONDO:0002177 Tags endocrine treatable
Green Green List (high evidence)	FOXE1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category C gene Expert Review Green Phenotypes Bamforth-Lazarus syndrome MIM# 241850 Tags deafness endocrine treatable
Green Green List (high evidence)	FOXN1	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources BabySeq Category C gene BeginNGS Expert Review Green Phenotypes 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 Tags immunological treatable
Green Green List (high evidence)	FOXP3	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources BabySeq Category A gene BeginNGS Expert Review Green Phenotypes IPEX syndrome, MIM#304790 Tags immunological treatable
Green Green List (high evidence)	FUCA1	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Green Phenotypes Fucosidosis, MIM# 230000 Tags metabolic treatable
Green Green List (high evidence)	G6PC	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene BeginNGS Expert Review Green Phenotypes Glycogen storage disease Ia, MIM#232200 Tags metabolic treatable
Green Green List (high evidence)	G6PC3	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene BeginNGS Expert Review Green Phenotypes Neutropaenia, congenital, MIM#612541 Tags immunological treatable
Green Green List (high evidence)	G6PD	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources BabySeq Category A gene BeginNGS Expert Review Green Phenotypes Glucose-6-phosphate dehydrogenase deficiency, MIM#300908 Tags haematological treatable
Green Green List (high evidence)	GAA	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene BeginNGS Expert Review Green Phenotypes Glycogen storage disease II, Pompe disease, MIM# 232300 Tags metabolic treatable
Green Green List (high evidence)	GALC	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Green Phenotypes Krabbe disease, MIM#245200 Tags metabolic treatable
Green Green List (high evidence)	GALE	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources BeginNGS Expert Review Green Phenotypes Galactose epimerase deficiency , MIM#230350 Tags metabolic treatable
Green Green List (high evidence)	GALK1	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene BeginNGS Expert Review Green Phenotypes Galactokinase deficiency with cataracts, MIM#230200 Tags metabolic treatable
Green Green List (high evidence)	GALM	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Expert Review Green Phenotypes Galactosemia IV MIM#618881 Tags metabolic treatable
Green Green List (high evidence)	GALNS	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Green Phenotypes Mucopolysaccharidosis IVA, MIM#253000 Tags metabolic treatable
Green Green List (high evidence)	GALNT3	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Tumoral calcinosis, hyperphosphatemic, familial, 1, MIM# 211900 Tags endocrine treatable
Green Green List (high evidence)	GALT	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene BeginNGS Expert Review Green Phenotypes Galactosaemia, MIM#230400 Tags metabolic treatable
Green Green List (high evidence)	GAMT	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BeginNGS Expert Review Green Phenotypes Cerebral creatine deficiency syndrome 2, MIM# 612736 Tags metabolic treatable
Green Green List (high evidence)	GATA2	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Phenotypes Immunodeficiency 21 MIM# 614172 Emberger syndrome MIM# 614038 Tags deafness haematological treatable
Green Green List (high evidence)	GATA3	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Phenotypes Hypoparathyroidism, sensorineural deafness, and renal dysplasia, MIM# 146255 Tags deafness endocrine treatable
Green Green List (high evidence)	GATA4	3 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category A gene Expert Review Green Phenotypes Neonatal diabetes mellitus, MONDO:0016391, GATA4-related Tags endocrine treatable
Green Green List (high evidence)	GATM	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Cerebral creatine deficiency syndrome 3 MIM#612718 Tags metabolic treatable
Green Green List (high evidence)	GBA	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Green Phenotypes Gaucher disease type 1, MIM#230800 Tags metabolic technically challenging treatable
Green Green List (high evidence)	GCDH	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene BeginNGS Expert Review Green Phenotypes Glutaric aciduria, type I, MIM#231670 Tags metabolic treatable
Green Green List (high evidence)	GCH1	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category B gene BeginNGS Expert Review Green Phenotypes Hyperphenylalaninemia, BH4-deficient, B, MIM# 233910 Dystonia, DOPA-responsive, with or without hyperphenylalaninemia, MIM# 128230 Tags metabolic treatable
Green Green List (high evidence)	GCK	2 reviews 2 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources BabySeq Category A gene BeginNGS Expert Review Green Phenotypes Hyperinsulinemic hypoglycemia, familial, MIM#602485 Tags endocrine treatable
Green Green List (high evidence)	GCM2	1 review 1 green	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Sources Expert Review Expert Review Green Phenotypes Hyperparathyroidism 4, OMIM #617343 Hypoparathyroidism, familial isolated 2, OMIM #618883 Tags endocrine treatable
Green Green List (high evidence)	GFI1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Phenotypes Neutropenia, severe congenital 2, autosomal dominant, MIM# 613107 Tags immunological treatable
Green Green List (high evidence)	GGCX	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Vitamin K-dependent clotting factors, combined deficiency of, 1 MIM# 277450 Tags haematological treatable
Green Green List (high evidence)	GH1	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Growth hormone deficiency, isolated, type IA, MIM# 262400 Growth hormone deficiency, isolated, type II, MIM# 173100 Kowarski syndrome, MIM# 262650 Tags endocrine treatable
Green Green List (high evidence)	GHR	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Growth hormone insensitivity, partial, MIM# 604271 Laron dwarfism, MIM# 262500 Tags endocrine treatable
Green Green List (high evidence)	GHRHR	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Growth hormone deficiency, isolated, type IV, MIM# 618157 Tags endocrine treatable
Green Green List (high evidence)	GIF	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources BeginNGS Expert list Expert Review Green Phenotypes Intrinsic factor deficiency, MIM# 261000 Tags haematological new gene name treatable
Green Green List (high evidence)	GIPC3	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Green Phenotypes Deafness, autosomal recessive 15, MIM# 601869 Tags deafness
Green Green List (high evidence)	GJB2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Green Phenotypes Deafness, autosomal recessive 1A, MIM# 220290 Tags deafness
Green Green List (high evidence)	GLA	2 reviews 2 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources BabySeq Category A gene Expert Review Green Phenotypes Fabry disease (MIM# 301500) Tags metabolic treatable
Green Green List (high evidence)	GLIS3	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category C gene BeginNGS Expert Review Green Phenotypes Diabetes mellitus, neonatal, with congenital hypothyroidism MIM#610199 Tags endocrine treatable
Green Green List (high evidence)	GLRA1	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources BabySeq Category A gene BeginNGS Expert Review Green Phenotypes Hyperekplexia, hereditary 1, autosomal dominant or recessive, MIM#149400 Tags neurological treatable
Green Green List (high evidence)	GLUD1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category A gene BeginNGS Expert Review Green Phenotypes Hyperinsulinism, MIM#606762 Tags endocrine treatable
Green Green List (high evidence)	GNAS	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed)	Sources BabySeq Category A gene Expert Review Green Phenotypes Pseudopseudohypoparathyroidism Pseudohypoparathyroidism Tags endocrine treatable
Green Green List (high evidence)	GOT2	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources BeginNGS Expert Review Green Phenotypes Developmental and epileptic encephalopathy 82, MIM# 618721 Tags neurological treatable
Green Green List (high evidence)	GPIHBP1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Hyperlipoproteinemia, type 1D MIM#615947 familial chylomicronemia syndrome Tags metabolic treatable
Green Green List (high evidence)	GREB1L	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Phenotypes Deafness, autosomal dominant 80 MIM#619274 Tags deafness
Green Green List (high evidence)	GRHPR	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Green Phenotypes Hyperoxaluria, primary, type II, MIM# 260000 Tags clinical trial metabolic treatable
Green Green List (high evidence)	GRXCR1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category C gene Expert Review Green Phenotypes Deafness, autosomal recessive 25, MIM# 613285 Tags deafness
Green Green List (high evidence)	GUSB	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene BeginNGS Expert Review Green Phenotypes Mucopolysaccharidosis VII, MIM#253220 Tags metabolic treatable
Green Green List (high evidence)	GYS2	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Green Phenotypes Glycogen storage disease 0, liver (MIM#240600) Tags metabolic treatable
Green Green List (high evidence)	HADH	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene BabySeq Category C gene BeginNGS Expert Review Green Phenotypes 3-hydroxyacyl-CoA dehydrogenase deficiency, MIM# 231530 Tags metabolic treatable
Green Green List (high evidence)	HADHA	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene BeginNGS Expert Review Green Phenotypes Mitochondrial trifunctional protein deficiency, MIM#609015 LCHAD deficiency, MIM# 609016 Tags metabolic treatable
Green Green List (high evidence)	HADHB	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene BeginNGS Expert Review Green Phenotypes Mitochondrial trifunctional protein deficiency, MIM#609015 Tags metabolic treatable
Green Green List (high evidence)	HAX1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BeginNGS Expert Review Green Phenotypes Neutropenia, severe congenital 3, autosomal recessive, MIM# 610738 Kostmann syndrome MONDO:0012548 Tags haematological treatable
Green Green List (high evidence)	HBB	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Green Phenotypes Sickle cell anaemia, MIM# 603903 Tags haematological treatable
Green Green List (high evidence)	HELLS	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Immunodeficiency-centromeric instability-facial anomalies syndrome 4, MIM# 616911 Tags immunological treatable
Green Green List (high evidence)	HESX1	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources BabySeq Category C gene BeginNGS Expert Review Green Phenotypes Pituitary hormone deficiency, combined, 5, MIM# 182230 Tags endocrine treatable
Green Green List (high evidence)	HGF	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category C gene Expert Review Green Phenotypes Deafness, autosomal recessive 39, MIM# 608265 Tags deafness deep intronic founder
Green Green List (high evidence)	HIBCH	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category C gene Expert Review Green Phenotypes 3-hydroxyisobutryl-CoA hydrolase deficiency MIM#250620 Tags metabolic treatable
Green Green List (high evidence)	HK1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category C gene BeginNGS Expert Review Green Phenotypes Hyperinsulinism MONDO:0002177, HK1-related Tags endocrine treatable
Green Green List (high evidence)	HLCS	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene BeginNGS Expert Review Green Phenotypes Holocarboxylase synthetase deficiency, MIM#253270 Tags metabolic treatable
Green Green List (high evidence)	HMGCL	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene BeginNGS Expert Review Green Phenotypes 3-hydroxy-3-methylglutaric aciduria, MIM#246450 Tags metabolic treatable
Green Green List (high evidence)	HOGA1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Hyperoxaluria, primary, type III MIM#613616 Tags metabolic treatable
Green Green List (high evidence)	HSD11B2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Apparent mineralocorticoid excess, MIM# 218030 MONDO:0009025 Tags endocrine treatable
Green Green List (high evidence)	HSD3B2	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources BeginNGS Expert list Expert Review Green Phenotypes Adrenal hyperplasia, congenital, due to 3-beta-hydroxysteroid dehydrogenase 2 deficiency MIM# 201810 Tags endocrine treatable
Green Green List (high evidence)	HSD3B7	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Green Phenotypes Bile acid synthesis defect, congenital, 1 MIM#607765 Tags liver treatable
Green Green List (high evidence)	ICOS	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Immunodeficiency, common variable, 1 MIM# 607594 Tags immunological treatable
Green Green List (high evidence)	IDS	2 reviews 2 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources BabySeq Category A gene Expert Review Green Phenotypes Mucopolysaccharidosis II (MPS2, Hunter syndrome) 309900 Tags metabolic treatable
Green Green List (high evidence)	IDUA	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene BeginNGS Expert Review Green Phenotypes Mucopolysaccharidosis type 1, MONDO:0001586 Tags metabolic treatable
Green Green List (high evidence)	IFITM5	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Phenotypes Osteogenesis imperfecta, type V MIM#610967 Tags 5'UTR skeletal treatable
Green Green List (high evidence)	IGF1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category C gene Expert Review Green Phenotypes Insulin-like growth factor I deficiency, MIM# 608747 Tags endocrine treatable
Green Green List (high evidence)	IGHM	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BeginNGS Expert Review Green Phenotypes Agammaglobulinaemia 1, MIM# 601495 Tags immunological technically challenging treatable
Green Green List (high evidence)	IGLL1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BeginNGS Expert Review Green Phenotypes Agammaglobulinaemia 2, MIM# 613500 Tags immunological treatable
Green Green List (high evidence)	IGSF1	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources BabySeq Category A gene Expert Review Green Phenotypes Hypothyroidism, central, and testicular enlargement, MIM# 300888 Tags endocrine treatable
Green Green List (high evidence)	IKBKB	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Immunodeficiency 15B, MIM# 615592 Tags immunological treatable
Green Green List (high evidence)	IKZF1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Phenotypes Immunodeficiency, common variable, 13 MIM# 616873 Tags immunological treatable
Green Green List (high evidence)	IL10	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Autoinflammatory syndrome, MONDO:0019751, IL10-related Tags immunological treatable
Green Green List (high evidence)	IL10RA	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene BeginNGS Expert Review Green Phenotypes Inflammatory bowel disease 28, early onset, autosomal recessive, MIM# 613148 Tags immunological treatable
Green Green List (high evidence)	IL10RB	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category C gene BeginNGS Expert Review Green Phenotypes Inflammatory bowel disease 25, early onset, autosomal recessive, MIM# 612567 Tags immunological treatable
Green Green List (high evidence)	IL1RN	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Interleukin 1 receptor antagonist deficiency, MIM# 612852 Tags immunological treatable
Green Green List (high evidence)	IL21R	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Immunodeficiency 56, MIM# 615207 Tags immunological treatable
Green Green List (high evidence)	IL2RA	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Immunodeficiency 41 with lymphoproliferation and autoimmunity, MIM# 606367 Tags immunological treatable
Green Green List (high evidence)	IL2RB	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BeginNGS Expert Review Green Phenotypes Immunodeficiency 63 with lymphoproliferation and autoimmunity , MIM#618495 Tags immunological treatable
Green Green List (high evidence)	IL2RG	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources BabySeq Category A gene BeginNGS Expert Review Green Phenotypes Severe combined immunodeficiency, X-linked, MIM#312863 Tags immunological treatable
Green Green List (high evidence)	IL36RN	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Psoriasis 14, pustular, MIM# 614204 Tags immunological treatable
Green Green List (high evidence)	IL7R	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BeginNGS Expert list Expert Review Green Phenotypes Severe combined immunodeficiency, T-cell negative, B-cell/natural killer cell-positive type MIM#608971 Tags immunological treatable
Green Green List (high evidence)	ILDR1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Green Phenotypes Deafness, autosomal recessive 42, MIM# 609646 Tags deafness
Green Green List (high evidence)	INS	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources BeginNGS Expert list Expert Review Green Phenotypes Diabetes mellitus, insulin-dependent, 2, MIM# 125852 Diabetes mellitus, permanent neonatal 4, MIM# 618858 Maturity-onset diabetes of the young, type 10, MIM# 613370 Tags endocrine for review treatable
Green Green List (high evidence)	IRAK4	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BeginNGS Expert Review Green Phenotypes Immunodeficiency 67, MIM# 607676 Tags immunological treatable
Green Green List (high evidence)	IRF8	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Immunodeficiency 32B, monocyte and dendritic cell deficiency, autosomal recessive, MIM# 226990 Tags immunological treatable
Green Green List (high evidence)	IRS4	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert list Expert Review Green Phenotypes Hypothyroidism, congenital, nongoitrous, 9, MIM# 301035 Tags endocrine treatable
Green Green List (high evidence)	ITGA2B	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources ClinGen Expert Review Green Phenotypes Glanzmann thrombasthaenia 1, MIM# 273800 Tags haematological treatable
Green Green List (high evidence)	ITGB2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BeginNGS Expert Review Green Phenotypes Leukocyte adhesion deficiency, MIM# 116920 Tags immunological treatable
Green Green List (high evidence)	ITGB3	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources ClinGen Expert Review Green Phenotypes Glanzmann thrombasthenia 2, MIM# 619267 Tags haematological treatable
Green Green List (high evidence)	ITK	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Lymphoproliferative syndrome 1, MIM# 613011 Tags immunological treatable
Green Green List (high evidence)	IVD	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene BeginNGS Expert Review Green Phenotypes Isovaleric acidemia, MIM#243500 Tags metabolic treatable
Green Green List (high evidence)	IYD	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category C gene Expert Review Green Phenotypes Thyroid dyshormonogenesis 4, MIM# 274800 Tags endocrine treatable
Green Green List (high evidence)	JAGN1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Neutropenia, severe congenital, 6, autosomal recessive, MIM# 616022 Tags immunological treatable
Green Green List (high evidence)	JAK3	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene BeginNGS Expert Review Green Phenotypes SCID, autosomal recessive, T-negative/B-positive type, MIM#600802 Tags immunological treatable
Green Green List (high evidence)	KCNH2	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category B gene Expert Review Green Phenotypes Long QT syndrome 2, MIM# 613688 Tags cardiac treatable
Green Green List (high evidence)	KCNJ1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Green Phenotypes Bartter syndrome, type 2, 241200 Tags renal treatable
Green Green List (high evidence)	KCNJ11	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources BabySeq Category A gene BeginNGS Expert Review Green Phenotypes Diabetes mellitus, transient neonatal, 3 610582 Diabetes, permanent neonatal, with or without neurologic features 606176 Hyperinsulinemic hypoglycemia, familial, 2 601820 Tags endocrine treatable
Green Green List (high evidence)	KCNJ2	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category A gene Expert Review Green Phenotypes Andersen syndrome MIM#170390 Tags cardiac treatable
Green Green List (high evidence)	KCNQ1	2 reviews 2 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources BabySeq Category A gene BabySeq Category B gene BeginNGS Expert Review Green Phenotypes Jervell and Lange-Nielsen syndrome MIM#220400 Long QT syndrome 1, MIM# 192500 Tags cardiac deafness treatable
Green Green List (high evidence)	KDELR2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Osteogenesis imperfecta 21, MIM# 619131 Tags skeletal treatable
Green Green List (high evidence)	KLHL3	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Pseudohypoaldosteronism, type IID, MIM# 614495 Tags endocrine treatable
Green Green List (high evidence)	LAMA2	2 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Green Phenotypes Muscular dystrophy, congenital, merosin deficient or partially deficient, MIM# 607855 Tags pharmacogenomic
Green Green List (high evidence)	LAT	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Immunodeficiency 52, MIM# 617514 Tags immunological treatable
Green Green List (high evidence)	LDLR	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Green Phenotypes Hypercholesterolemia, familial, 1, MIM# 143890 Tags metabolic treatable
Green Green List (high evidence)	LEP	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Obesity, morbid, due to leptin deficiency (MIM#614962) Tags endocrine treatable
Green Green List (high evidence)	LEPR	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Green Phenotypes Obesity, morbid, due to leptin receptor deficiency (MIM#614963) Tags clinical trial endocrine treatable
Green Green List (high evidence)	LHFPL5	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Green Phenotypes Deafness, autosomal recessive 67, MIM# 610265 Tags deafness
Green Green List (high evidence)	LHX3	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene BeginNGS Expert Review Green Phenotypes Pituitary hormone deficiency, combined, MIM#221750 Tags endocrine treatable
Green Green List (high evidence)	LHX4	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BeginNGS Expert Review Green Phenotypes Pituitary hormone deficiency, combined, 4, MIM# 262700 Tags endocrine treatable
Green Green List (high evidence)	LIG1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Immunodeficiency 96, MIM# 619774 Tags immunological treatable
Green Green List (high evidence)	LIG4	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Green Phenotypes LIG4 syndrome, MIM# 606593 Tags immunological treatable
Green Green List (high evidence)	LIPA	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene BeginNGS Expert Review Green Phenotypes Wolman syndrome, MIM#278000 Tags metabolic treatable
Green Green List (high evidence)	LMBRD1	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene BeginNGS Expert Review Green Phenotypes Methylmalonic aciduria and homocystinuria, MIM#277380 Tags metabolic treatable
Green Green List (high evidence)	LOXHD1	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Green Phenotypes Deafness, autosomal recessive 77, MIM# 613079 Tags deafness
Green Green List (high evidence)	LPL	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Lipoprotein lipase deficiency, MIM# 238600 Tags metabolic treatable
Green Green List (high evidence)	LRBA	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Immunodeficiency, common variable, 8, with autoimmunity MIM# 614700 Tags immunological treatable
Green Green List (high evidence)	LRP5	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Green Phenotypes Osteoporosis-pseudoglioma syndrome, MIM# 259770 Tags skeletal treatable
Green Green List (high evidence)	LRTOMT	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Green Phenotypes Deafness, autosomal recessive 63, MIM# 611451 Tags deafness
Green Green List (high evidence)	LYST	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene BeginNGS Expert Review Green Phenotypes Chediak-Higashi syndrome, MIM#214500 Tags immunological treatable
Green Green List (high evidence)	MAFB	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category A gene Expert Review Green Phenotypes Multicentric carpotarsal osteolysis syndrome (MIM#166300) Tags for review
Green Green List (high evidence)	MAGT1	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert list Expert Review Green Phenotypes Immunodeficiency, X-linked, with magnesium defect, Epstein-Barr virus infection and neoplasia (MIM# 300853) Tags immunological treatable
Green Green List (high evidence)	MALT1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Immunodeficiency 12 MIM# 615468 Tags immunological treatable
Green Green List (high evidence)	MAN2B1	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Green Phenotypes Mannosidosis, alpha-, types I and II, MIM# 248500 Tags metabolic treatable
Green Green List (high evidence)	MARVELD2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Green Phenotypes Deafness, autosomal recessive 49, MIM# 610153 Tags deafness
Green Green List (high evidence)	MC2R	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources BeginNGS Expert Review Green Phenotypes Glucocorticoid deficiency, due to ACTH unresponsiveness, MIM# 202200 Tags endocrine treatable
Green Green List (high evidence)	MCEE	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category C gene Expert Review Green Phenotypes Methylmalonyl-CoA epimerase deficiency MIM#251120 Tags metabolic treatable
Green Green List (high evidence)	MEFV	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Green Phenotypes Familial Mediterranean fever MIM# 249100 Tags haematological treatable
Green Green List (high evidence)	MESD	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Expert Review Green Phenotypes Osteogenesis imperfecta, type XX, MIM# 618644 Tags skeletal treatable
Green Green List (high evidence)	MITF	2 reviews 2 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Green Phenotypes Waardenburg syndrome, type 2A, MIM# 193510 Deafness Tags deafness
Green Green List (high evidence)	MLH1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category C gene Expert Review Green Phenotypes Mismatch repair cancer syndrome 1, MIM# 276300 Tags cancer treatable
Green Green List (high evidence)	MLYCD	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Green Phenotypes Malonyl-CoA decarboxylase deficiency, MIM# 248360 Tags metabolic treatable
Green Green List (high evidence)	MMAA	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene BeginNGS Expert Review Green Phenotypes Methylmalonic aciduria, vitamin B12-responsive, MIM#251100 Tags metabolic treatable
Green Green List (high evidence)	MMAB	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene BeginNGS Expert Review Green Phenotypes Methylmalonic aciduria, vitamin B12-responsive, due to defect in synthesis of adenosylcobalamin, cblB complementation type, MIM#251110 Tags metabolic treatable
Green Green List (high evidence)	MMACHC	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene BeginNGS Expert Review Green Phenotypes Methylmalonic aciduria and homocystinuria, cblC type, MIM#277400 Tags metabolic treatable
Green Green List (high evidence)	MMADHC	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene BeginNGS Expert Review Green Phenotypes Methylmalonic aciduria and homocystinuria, cblD type, MIM#277410 Tags metabolic treatable
Green Green List (high evidence)	MNX1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Permanent neonatal diabetes mellitus, MONDO:0100164, MNX1-related Tags endocrine treatable
Green Green List (high evidence)	MOCS1	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene BeginNGS Expert Review Green Phenotypes Molybdenum cofactor deficiency, MIM#252150 Tags metabolic treatable
Green Green List (high evidence)	MPI	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Green Phenotypes Congenital disorder of glycosylation, type Ib, MIM# 602579 Tags metabolic
Green Green List (high evidence)	MPL	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Green Phenotypes Thrombocytopenia, congenital amegakaryocytic, MIM# 604498 Tags haematological treatable
Green Green List (high evidence)	MRAP	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources BeginNGS Expert Review Green Phenotypes Glucocorticoid deficiency 2, MIM# 607398 Tags endocrine treatable
Green Green List (high evidence)	MSH2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category C gene Expert Review Green Phenotypes Mismatch repair cancer syndrome 2, MIM# 619096 Tags cancer treatable
Green Green List (high evidence)	MSH6	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category C gene Expert Review Green Phenotypes Mismatch repair cancer syndrome 3, MIM# 619097 Tags cancer treatable
Green Green List (high evidence)	MT-RNR1	1 review 1 green	MITOCHONDRIAL	Sources Expert Review Expert Review Green Phenotypes Aminoglycoside sensitivity Tags pharmacogenomic
Green Green List (high evidence)	MTHFD1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Combined immunodeficiency and megaloblastic anemia with or without hyperhomocysteinaemia MIM # 617780 Tags haematological immunological treatable
Green Green List (high evidence)	MTR	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene BeginNGS Expert Review Green Phenotypes Homocystinuria-megaloblastic anaemia, cblG complementation type, MIM# 250940 Tags haematological treatable
Green Green List (high evidence)	MTRR	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene BeginNGS Expert Review Green Phenotypes Methylmalonic aciduria and homocystinuria, MIM#236270 Tags metabolic treatable
Green Green List (high evidence)	MTTP	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Green Phenotypes Abetalipoproteinemia, MIM# 200100 Tags metabolic treatable
Green Green List (high evidence)	MUSK	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources BeginNGS:BabySeq Category A gene Expert Review Green Phenotypes Congenital myasthenic syndrome, MIM#616325 Tags neurological treatable
Green Green List (high evidence)	MUT	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene BeginNGS Expert Review Green Phenotypes Methylmalonic aciduria, mut(0) type, MIM# 251000 Tags metabolic treatable
Green Green List (high evidence)	MVK	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene BeginNGS Expert Review Green Phenotypes Mevalonic aciduria, MIM# 610377 Tags metabolic treatable
Green Green List (high evidence)	MYD88	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Immunodeficiency 68, MIM# 612260 Tags immunological treatable
Green Green List (high evidence)	MYH7	2 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene BabySeq Category B gene BabySeq Category C gene Expert Review Green Phenotypes Cardiomyopathy, hypertrophic, 1, MIM# 192600 Tags cardiac treatable
Green Green List (high evidence)	MYO15A	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Green Phenotypes Deafness, autosomal recessive 3, MIM# 600316 Tags deafness
Green Green List (high evidence)	MYO3A	2 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Green Phenotypes Deafness, autosomal recessive 30, MIM:607101 Tags deafness
Green Green List (high evidence)	MYO6	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Green Phenotypes Deafness, autosomal recessive 37, MIM# 607821 Tags deafness
Green Green List (high evidence)	MYO7A	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Green Phenotypes Deafness, autosomal recessive 2, 600060 Usher syndrome, type 1B, MIM# 276900 Tags deafness
Green Green List (high evidence)	MYSM1	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources BeginNGS Expert Review Green Phenotypes Bone marrow failure syndrome 4, MIM# 618116 Tags haematological treatable
Green Green List (high evidence)	NAGLU	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Green Phenotypes Mucopolysaccharidosis type IIIB (Sanfilippo B), MIM# 252920 Tags metabolic treatable
Green Green List (high evidence)	NAGS	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene BeginNGS Expert Review Green Phenotypes N-acetylglutamate synthetase deficiency, MIM#237310 Tags metabolic treatable
Green Green List (high evidence)	NCF2	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene BeginNGS Expert Review Green Phenotypes Chronic granulomatous disease, MIM#233710 Tags immunological treatable
Green Green List (high evidence)	NCF4	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category C gene BeginNGS Expert Review Green Phenotypes Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type III MIM#613960 Tags immunological treatable
Green Green List (high evidence)	NEUROG3	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category C gene BeginNGS Expert Review Green Phenotypes Diarrhoea 4, malabsorptive, congenital, MIM# 610370 Tags gastrointestinal treatable
Green Green List (high evidence)	NFKBIA	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Phenotypes Ectodermal dysplasia and immunodeficiency 2 MIM# 612132 Tags immunological treatable
Green Green List (high evidence)	NHEJ1	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene BeginNGS Expert Review Green Phenotypes Severe combined immunodeficiency with microcephaly, growth retardation, and sensitivity to ionizing radiation, MIM#611291 Tags immunological treatable
Green Green List (high evidence)	NIPAL4	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Green Phenotypes Ichthyosis, congenital, autosomal recessive 6, MIM# 612281 Tags dermatological treatable
Green Green List (high evidence)	NKX2-1	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category A gene Expert Review Green Phenotypes Choreoathetosis, hypothyroidism, and neonatal respiratory distress MIM#610978 Tags endocrine treatable
Green Green List (high evidence)	NKX2-5	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category B gene Expert Review Green Phenotypes Atrial septal defect 7, with or without AV conduction defects, MIM# 108900 Tags cardiac treatable
Green Green List (high evidence)	NNT	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources BeginNGS Expert Review Green Phenotypes Glucocorticoid deficiency 4, with or without mineralocorticoid deficiency, MIM# 614736 Tags endocrine treatable
Green Green List (high evidence)	NPC1	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene BeginNGS Expert Review Green Phenotypes Niemann-Pick disease type C1, MIM#257220 Tags metabolic treatable
Green Green List (high evidence)	NPC2	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene BeginNGS Expert Review Green Phenotypes Niemann-Pick disease type C2, MIM#607625 Tags metabolic treatable
Green Green List (high evidence)	NR0B1	2 reviews 2 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources BabySeq Category A gene Expert Review Green Phenotypes Adrenal hypoplasia, congenital (MIM# 300200) Tags endocrine treatable
Green Green List (high evidence)	NR3C2	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BeginNGS Expert Review Green Phenotypes Pseudohypoaldosteronism type I, autosomal dominant , MIM#177735 Tags endocrine treatable
Green Green List (high evidence)	NR5A1	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BeginNGS Expert Review Green Phenotypes Adrenocortical insufficiency, (MIM#612964) Tags endocrine treatable
Green Green List (high evidence)	OAS1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Phenotypes Immunodeficiency 100 with pulmonary alveolar proteinosis and hypogammaglobulinaemia, MIM#618042 Tags immunological treatable
Green Green List (high evidence)	OAT	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources ClinGen Expert Review Green Phenotypes Gyrate atrophy of choroid and retina with or without ornithinemia MIM#258870 Tags metabolic treatable
Green Green List (high evidence)	ORAI1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Expert Review Green Phenotypes Immunodeficiency 9, MIM# 612782 Tags immunological treatable
Green Green List (high evidence)	OTC	2 reviews 2 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources BabySeq Category A gene BeginNGS Expert Review Green Phenotypes Ornithine transcarbamylase deficiency, MIM#311250 Tags metabolic treatable
Green Green List (high evidence)	OTOA	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Green Phenotypes Deafness, autosomal recessive 22, MIM#607039 Tags deafness SV/CNV
Green Green List (high evidence)	OTOF	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Green Phenotypes Deafness, autosomal recessive 9, MIM#601071 Tags deafness
Green Green List (high evidence)	OTOG	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category C gene Expert Review Green Phenotypes Deafness, autosomal recessive 18B - MIM#614945 Tags deafness
Green Green List (high evidence)	OTOGL	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Green Phenotypes Deafness, autosomal recessive 84B, MIM# 614944 Tags deafness
Green Green List (high evidence)	OTULIN	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Autoinflammation, panniculitis, and dermatosis syndrome, MIM# 617099 Tags immunological treatable
Green Green List (high evidence)	OTX2	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Phenotypes Pituitary hormone deficiency, combined, 6, MIM# 613986 Tags endocrine treatable
Green Green List (high evidence)	OXCT1	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources BeginNGS Expert Review Green Phenotypes Succinyl CoA:3-oxoacid CoA transferase deficiency, MIM# 245050 Tags metabolic treatable
Green Green List (high evidence)	P3H1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Expert Review Green Phenotypes Osteogenesis imperfecta, type VIII, (MIM# 610915) Tags skeletal treatable
Green Green List (high evidence)	PAH	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene BeginNGS Expert Review Green Phenotypes Phenylketonuria, MIM#261600 Tags metabolic treatable
Green Green List (high evidence)	PALB2	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category C gene Expert Review Green Phenotypes Fanconi anemia, complementation group N, MIM# 610832 Tags haematological treatable
Green Green List (high evidence)	PAX3	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category A gene Expert Review Green Phenotypes Waardenburg syndrome, type 1, OMIM 193500 Tags deafness
Green Green List (high evidence)	PAX8	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category A gene Expert Review Green Phenotypes Hypothyroidism, congenital, due to thyroid dysgenesis or hypoplasia, MIM# 218700 Tags endocrine treatable
Green Green List (high evidence)	PC	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Green Phenotypes Pyruvate carboxylase deficiency, MIM# 266150 Tags metabolic treatable
Green Green List (high evidence)	PCBD1	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources BeginNGS Expert Review Green Phenotypes Hyperphenylalaninemia, BH4-deficient, D, MIM# 264070 Tags metabolic treatable
Green Green List (high evidence)	PCCA	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene BeginNGS Expert Review Green Phenotypes Propionic acidaemia, MIM#606054 Tags metabolic treatable
Green Green List (high evidence)	PCCB	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Green Phenotypes Propionicacidaemia, MIM#606054 Tags metabolic treatable
Green Green List (high evidence)	PCDH15	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Green Phenotypes Usher syndrome, type 1F 602083, Deafness, autosomal recessive 23 609533 Tags deafness
Green Green List (high evidence)	PCSK9	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category B gene Expert Review Green Phenotypes Hypercholesterolaemia, familial, 3, MIM# 603776 Tags for review metabolic treatable
Green Green List (high evidence)	PDHA1	2 reviews 2 green	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources BabySeq Category A gene Expert Review Green Phenotypes Pyruvate dehydrogenase E1-alpha deficiency, MIM# 312170 Tags metabolic treatable
Green Green List (high evidence)	PDHB	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Expert Review Green Phenotypes Pyruvate dehydrogenase E1-beta deficiency, MIM# 614111 Tags metabolic treatable
Green Green List (high evidence)	PDHX	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Green Phenotypes Lactic acidaemia due to PDX1 deficiency, MIM# 245349 Tags metabolic treatable
Green Green List (high evidence)	PDP1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category C gene Expert Review Green Phenotypes Pyruvate dehydrogenase phosphatase deficiency, MIM# 608782 Tags metabolic treatable
Green Green List (high evidence)	PDX1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Pancreatic agenesis, MIM# # 260370 Tags endocrine treatable
Green Green List (high evidence)	PDZD7	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Green Phenotypes Deafness, autosomal recessive 57, MIM# 618003 Usher syndrome, type IIC, GPR98/PDZD7 digenic, MIM# 605472 Tags deafness
Green Green List (high evidence)	PGM1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BeginNGS Expert Review Green Phenotypes Congenital disorder of glycosylation, type It, MIM# 614921 Tags metabolic treatable
Green Green List (high evidence)	PGM3	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BeginNGS Expert Review Green Phenotypes Immunodeficiency 23, MIM# 615816 Tags immunological treatable
Green Green List (high evidence)	PHEX	1 review 1 green	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources BeginNGS Expert Review Green Phenotypes Hypophosphatemic rickets, X-linked dominant, MIM# 307800 Tags skeletal treatable
Green Green List (high evidence)	PHGDH	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BeginNGS Expert Review Green Phenotypes Phosphoglycerate dehydrogenase deficiency, MIM# 601815 Tags metabolic treatable
Green Green List (high evidence)	PHKA2	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources BabySeq Category A gene Expert Review Green Phenotypes Glycogen storage disease, type IXa1 and a2, MIM# 306000 Tags metabolic treatable
Green Green List (high evidence)	PHKB	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Green Phenotypes Phosphorylase kinase deficiency of liver and muscle, autosomal recessive 261750 Glycogen storage disease IXb, MONDO:0009868 Tags metabolic treatable
Green Green List (high evidence)	PHKG2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Green Phenotypes Glycogen storage disease IXc, MIM# 613027 Tags metabolic treatable
Green Green List (high evidence)	PIK3CD	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Immunodeficiency 14B, autosomal recessive, MIM# 619281 Immunodeficiency 14A, autosomal dominant, MIM# 615513 Tags immunological treatable
Green Green List (high evidence)	PIK3R1	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources BeginNGS Expert Review Green Phenotypes Agammaglobulinemia 7, autosomal recessive, MIM# 615214 Immunodeficiency 36, MIM# 616005 Tags immunological treatable
Green Green List (high evidence)	PKLR	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene BeginNGS Expert Review Green Phenotypes Pyruvate kinase deficiency, MIM#266200 Tags metabolic treatable
Green Green List (high evidence)	PLG	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Green Phenotypes Plasminogen deficiency, type I, MIM# 217090 Tags haematological treatable
Green Green List (high evidence)	PLPBP	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BeginNGS Expert Review Green Phenotypes Epilepsy, early-onset, vitamin B6-dependent , MIM#617290 Tags metabolic treatable
Green Green List (high evidence)	PLS3	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert list Expert Review Green Phenotypes Bone mineral density QTL18, osteoporosis - MIM#300910 Tags skeletal treatable
Green Green List (high evidence)	PNP	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Immunodeficiency due to purine nucleoside phosphorylase deficiency MIM#613179 Tags immunological treatable
Green Green List (high evidence)	PNPO	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene BeginNGS Expert Review Green Phenotypes Pyridoxamine 5'-phosphate oxidase deficiency, MIM# 610090 Tags metabolic treatable
Green Green List (high evidence)	POLE	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes IMAGE-I syndrome, MIM# 618336 Tags endocrine treatable
Green Green List (high evidence)	POMC	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category C gene Expert Review Green Phenotypes Obesity, adrenal insufficiency, and red hair due to POMC deficiency MIM#609734 Tags
Green Green List (high evidence)	POR	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Green Phenotypes Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis, MIM#201750 Disordered steroidogenesis due to cytochrome P450 oxidoreductase, MIM# 613571 Tags endocrine treatable
Green Green List (high evidence)	POU1F1	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources BabySeq Category A gene BeginNGS Expert Review Green Phenotypes Pituitary hormone deficiency, combined, 1 MIM# 613038 Tags endocrine treatable
Green Green List (high evidence)	POU3F4	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources BabySeq Category A gene Expert Review Green Phenotypes Deafness, X-linked 2, MIM#304400 Tags deafness
Green Green List (high evidence)	PPOX	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category C gene Expert Review Green Phenotypes Variegate porphyria, childhood-onset, MIM# 620483 Tags haematological treatable
Green Green List (high evidence)	PRDX1	1 review 1 green	Other	Sources Expert list Expert Review Green Phenotypes Methylmalonic aciduria and homocystinuria, cblC type, digenic MIM#277400 Tags for review
Green Green List (high evidence)	PRF1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene BeginNGS Expert Review Green Phenotypes Haemophagocytic lymphohistiocytosis, familial, 2, MIM#603553 Tags immunological treatable
Green Green List (high evidence)	PRKAR1A	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category A gene Expert Review Green Phenotypes Carney complex, type 1, MIM# 160980 Tags cancer treatable
Green Green List (high evidence)	PRKDC	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BeginNGS Expert Review Green Phenotypes Immunodeficiency 26, with or without neurologic abnormalities, MIM# 615966 Tags immunological treatable
Green Green List (high evidence)	PROP1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene BeginNGS Expert Review Green Phenotypes Pituitary hormone deficiency, combined, 2, MIM#262600 Tags endocrine treatable
Green Green List (high evidence)	PSTPIP1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Phenotypes Autoinflammatory syndrome with cytopenia, hyperzincemia, and hypercalprotectinemia, MIMM# 601979 Pyogenic sterile arthritis, pyoderma gangrenosum, and acne, MIM# 604416 Tags immunological treatable
Green Green List (high evidence)	PTCH1	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category A gene Expert Review Green Phenotypes Basal cell nevus syndrome, MIM# 109400 Tags cancer
Green Green List (high evidence)	PTF1A	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BeginNGS Expert Review Green Phenotypes Pancreatic and cerebellar agenesis, MIM# 609069 Pancreatic agenesis 2, MIM# 615935 Tags gastrointestinal treatable
Green Green List (high evidence)	PTPRC	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Severe combined immunodeficiency, T cell-negative, B-cell/natural killer-cell positive MIM# 608971 Tags immunological treatable
Green Green List (high evidence)	PTPRQ	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources ClinGen Expert Review Green Phenotypes Deafness, autosomal recessive 84A, MIM# 613391 Deafness, autosomal dominant 73, MIM# 617663 Tags deafness
Green Green List (high evidence)	PTS	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene BeginNGS Expert Review Green Phenotypes Hyperphenylalaninemia, BH4-deficient, A, MIM#261640 Tags metabolic treatable
Green Green List (high evidence)	PYGL	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Green Phenotypes Glycogen storage disease VI, MIM# 232700 Tags metabolic treatable
Green Green List (high evidence)	QDPR	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene BeginNGS Expert Review Green Phenotypes Dihydropteridine reductase deficiency, MIM#261630 Tags metabolic treatable
Green Green List (high evidence)	RAB27A	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene BeginNGS Expert Review Green Phenotypes Griscelli syndrome, MIM#607624 Tags for review immunological
Green Green List (high evidence)	RAC2	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Phenotypes Immunodeficiency 73B with defective neutrophil chemotaxis and lymphopenia MIM# 618986 Tags immunological treatable
Green Green List (high evidence)	RAG1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene BeginNGS Expert Review Green Phenotypes 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 Tags immunological treatable
Green Green List (high evidence)	RAG2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene BEginNGS Expert Review Green Phenotypes Omenn syndrome MIM# 603554 Severe combined immunodeficiency, B cell-negative MIM# 601457 Combined cellular and humoral immune defects with granulomas MIM# 233650 Tags immunological treatable
Green Green List (high evidence)	RAPSN	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene BeginNGS Expert Review Green Phenotypes Myasthenic syndrome, congenital, 11, associated with acetylcholine receptor deficiency (MIM#616326) Tags neurological treatable
Green Green List (high evidence)	RASGRP1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Immunodeficiency 64 (MIM#618534) Tags immunological treatable
Green Green List (high evidence)	RB1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category A gene Expert Review Green Phenotypes Retinoblastoma, MIM# 180200 Tags cancer treatable
Green Green List (high evidence)	RDX	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category C gene Expert Review Green Phenotypes Deafness, autosomal recessive 24, MIM# 611022 Tags deafness
Green Green List (high evidence)	REST	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Phenotypes {Wilms tumor 6, susceptibility to}, MIM# 616806 Tags cancer treatable
Green Green List (high evidence)	RET	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category A gene Expert Review Green Phenotypes Multiple endocrine neoplasia IIB Multiple endocrine neoplasia IIA Tags cancer treatable
Green Green List (high evidence)	RFX5	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Expert Review Green Phenotypes Bare lymphocyte syndrome, type II, complementation group C MIM# 209920 Bare lymphocyte syndrome, type II, complementation group E MIM# 209920 Tags immunological treatable
Green Green List (high evidence)	RFXANK	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BeginNGS Expert Review Green Phenotypes MHC class II deficiency, complementation group B , MIM#209920 Tags immunological treatable
Green Green List (high evidence)	RFXAP	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Expert Review Green Phenotypes Bare lymphocyte syndrome, type II, complementation group D MIM# 209920 Tags immunological treatable
Green Green List (high evidence)	RMRP	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Green Phenotypes Cartilage-hair hypoplasia MIM#250250 Tags for review immunological non-coding gene treatable
Green Green List (high evidence)	RNPC3	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Pituitary hormone deficiency, combined or isolated, 7, MIM# 618160 Tags endocrine treatable
Green Green List (high evidence)	RPE65	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources ClinGen Expert Review Green Phenotypes Leber congenital amaurosis 2 MIM#204100 Retinitis pigmentosa 20 MIM#613794 Tags for review ophthalmological treatable
Green Green List (high evidence)	RPL11	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category A gene BeginNGS Expert Review Green Phenotypes Diamond-Blackfan anaemia, MIM#612562 Tags haematological treatable
Green Green List (high evidence)	RPL15	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BeginNGS Expert Review Green Phenotypes Diamond-Blackfan anaemia 12 , MIM# 615550 Tags haematological treatable
Green Green List (high evidence)	RPL35A	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category C gene BeginNGS Expert Review Green Phenotypes Diamond-Blackfan anaemia 5, MIM# 612528 Tags haematological treatable
Green Green List (high evidence)	RPL5	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category A gene BeginNGS Expert Review Green Phenotypes Diamond-Blackfan anaemia, MIM#612561 Tags haematological treatable
Green Green List (high evidence)	RPS10	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category C gene BeginNGS Expert Review Green Phenotypes Diamond-Blackfan anaemia 9, MIM# 613308 Tags haematological treatable
Green Green List (high evidence)	RPS17	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category A gene BeginNGS Expert Review Green Phenotypes Diamond-Blackfan anaemia, MIM#612527 Tags haematological treatable
Green Green List (high evidence)	RPS19	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category A gene BeginNGS Expert Review Green Phenotypes Diamond-Blackfan anaemia, MIM#105650 Tags haematological treatable
Green Green List (high evidence)	RPS24	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category A gene BeginNGS Expert Review Green Phenotypes Diamond-Blackfan anaemia, MIM#610629 Tags haematological treatable
Green Green List (high evidence)	RPS26	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category A gene BeginNGS Expert Review Green Phenotypes Diamond-Blackfan anaemia, MM#613309 Tags haematological treatable
Green Green List (high evidence)	RPS7	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category C gene BeginNGS Expert Review Green Phenotypes Diamond-Blackfan anaemia 8, MIM# 612563 Tags haematological treatable
Green Green List (high evidence)	RUNX1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources ClinGen Expert Review Green Phenotypes Platelet disorder, familial, with associated myeloid malignancy, MIM# 601399 Tags for review haematological treatable
Green Green List (high evidence)	RYR1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category A gene BabySeq Category B gene BabySeq Category C gene BeginNGS Expert Review Green Phenotypes {Malignant hyperthermia susceptibility 1} MIM#145600 Tags pharmacogenomic
Green Green List (high evidence)	RYR2	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category A gene Expert Review Green Phenotypes Arrhythmogenic right ventricular dysplasia 2 Ventricular tachycardia, catecholaminergic polymorphic Tags cardiac treatable
Green Green List (high evidence)	S1PR2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources ClinGen Expert Review Green Phenotypes Deafness, autosomal recessive 68, MIM# 610419 Tags deafness
Green Green List (high evidence)	SAMD9	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Phenotypes MIRAGE syndrome, MIM# 617053 Tags endocrine haematological treatable
Green Green List (high evidence)	SAMD9L	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Phenotypes Ataxia-pancytopenia syndrome, MIM# 159550 Tags haematological immunological treatable
Green Green List (high evidence)	SAR1B	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Chylomicron retention disease, MIM# 246700 Tags gastrointestinal treatable
Green Green List (high evidence)	SBDS	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Green Phenotypes Shwachman-Diamond syndrome, MIM# 260400 Tags gastrointestinal haematological treatable
Green Green List (high evidence)	SCNN1A	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene BeginNGS Expert Review Green Phenotypes Pseudohypoaldosteronism, type I, MIM# 264350 Tags endocrine treatable
Green Green List (high evidence)	SCNN1B	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene BabySeq Category C gene BeginNGS Expert Review Green Phenotypes Pseudohypoaldosteronism, type I MIM# 264350 Tags endocrine treatable
Green Green List (high evidence)	SCNN1G	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category C gene BeginNGS Expert Review Green Phenotypes Pseudohypoaldosteronism, type I, MIM# 264350 Tags endocrine treatable
Green Green List (high evidence)	SERPINF1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Osteogenesis imperfecta, type VI, MIM# 613982 Tags skeletal treatable
Green Green List (high evidence)	SERPINH1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Osteogenesis imperfecta, type X, MIM# 613848 Tags skeletal treatable
Green Green List (high evidence)	SGPL1	2 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Nephrotic syndrome, type 14 MIM#617575 Tags endocrine treatable
Green Green List (high evidence)	SH2D1A	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources BabySeq Category A gene BeginNGS Expert Review Green Phenotypes Lymphoproliferative syndrome, X-linked, 1, MIM# 308240 Tags immunological treatable
Green Green List (high evidence)	SI	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BeginNGS Expert Review Green Phenotypes Sucrase-isomaltase deficiency, congenital, MIM# 222900 Tags gastrointestinal treatable
Green Green List (high evidence)	SLC12A1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Green Phenotypes Bartter syndrome, type 1, MIM# 601678 Tags renal treatable
Green Green List (high evidence)	SLC18A2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BeginNGS Expert Review Green Phenotypes Parkinsonism-dystonia, infantile, 2, MIM# 618049 Tags neurological treatable
Green Green List (high evidence)	SLC18A3	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BeginNGS Expert Review Green Phenotypes Myasthenic syndrome, congenital, 21, presynaptic, MIM# 617239 Tags neurological treatable
Green Green List (high evidence)	SLC19A2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Green Phenotypes Thiamine-responsive megaloblastic anemia syndrome, MIM# 249270 Tags metabolic treatable
Green Green List (high evidence)	SLC19A3	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene BeginNGS Expert Review Green Phenotypes Thiamine metabolism dysfunction syndrome 2 (biotin- or thiamine-responsive encephalopathy type 2), MIM# 607483 Tags metabolic treatable
Green Green List (high evidence)	SLC22A5	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene BeginNGS Expert Review Green Phenotypes Carnitine deficiency, systemic primary, MIM# 212140, MONDO:0008919 Tags metabolic treatable
Green Green List (high evidence)	SLC25A13	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene BeginNGS Expert Review Green Phenotypes Citrullinemia, type II, neonatal-onset, MIM# 605814 Tags metabolic treatable
Green Green List (high evidence)	SLC25A15	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene BeginNGS Expert Review Green Phenotypes Hyperornithinemia-hyperammonemia-homocitrullinemia syndrome, MIM#238970 Tags metabolic treatable
Green Green List (high evidence)	SLC25A19	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Thiamine metabolism dysfunction syndrome 4 (progressive polyneuropathy type), MIM#613710 Tags metabolic treatable
Green Green List (high evidence)	SLC25A20	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene BeginNGS Expert Review Green Phenotypes Carnitine-acylcarnitine translocase deficiency, MIM#212138 Tags metabolic treatable
Green Green List (high evidence)	SLC25A38	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Green Phenotypes Anemia, sideroblastic, 2, pyridoxine-refractory, MIM# 205950 Tags haematological treatable
Green Green List (high evidence)	SLC26A3	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Green Phenotypes Diarrhoea 1, secretory chloride, congenital, MIM# 214700 Tags gastrointestinal treatable
Green Green List (high evidence)	SLC26A4	2 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Green Phenotypes Deafness, autosomal recessive 4, with enlarged vestibular aqueduct 600791 Pendred syndrome 274600 Tags deafness
Green Green List (high evidence)	SLC26A7	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Congenital hypothyroidism, MONDO:0018612, SLC26A7-related Tags endocrine treatable
Green Green List (high evidence)	SLC2A1	2 reviews 2 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources BabySeq Category A gene BeginNGS Expert Review Green Phenotypes GLUT1 deficiency syndrome 2, childhood onset, 612126 {Epilepsy, idiopathic generalized, susceptibility to, 12}, MIM#614847 GLUT1 deficiency syndrome 1, infantile onset, severe, 606777 Tags neurological treatable
Green Green List (high evidence)	SLC30A10	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Hypermanganesemia with dystonia 1, MIM# 613280 Tags metabolic treatable
Green Green List (high evidence)	SLC34A3	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Green Phenotypes Hypophosphatemic rickets with hypercalciuria, MIM#241530 Tags skeletal treatable
Green Green List (high evidence)	SLC35A2	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources BabySeq Category C gene Expert Review Green Phenotypes Congenital disorder of glycosylation, type IIm, MIM #300896 Tags metabolic treatable
Green Green List (high evidence)	SLC37A4	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources BabySeq Category A gene BeginNGS Expert Review Green Phenotypes Glycogen storage disease Ib, MIM# 232220 Glycogen storage disease Ic, MIM# 232240 Congenital disorder of glycosylation, type IIw, MIM# 619525 Tags metabolic treatable
Green Green List (high evidence)	SLC39A4	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Green Phenotypes Acrodermatitis enteropathica, MIM# 201100 Tags metabolic treatable
Green Green List (high evidence)	SLC39A7	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Agammaglobulinaemia 9, autosomal recessive, MIM# 619693 Tags immunological treatable
Green Green List (high evidence)	SLC39A8	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BeginNGS Expert Review Green Phenotypes Congenital disorder of glycosylation, type IIn , MIM#16721 Tags metabolic treatable
Green Green List (high evidence)	SLC46A1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene BeginNGS Expert Review Green Phenotypes Folate malabsorption, hereditary, MIM# 229050 Tags metabolic treatable
Green Green List (high evidence)	SLC4A1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Green Phenotypes Distal renal tubular acidosis 4 with haemolytic anaemia MIM# 611590 Tags for review renal treatable
Green Green List (high evidence)	SLC52A2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BeginNGS Expert Review Green Phenotypes Brown-Vialetto-Van Laere syndrome 2, MIM# 614707 Tags metabolic treatable
Green Green List (high evidence)	SLC52A3	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BeginNGS Expert Review Green Phenotypes Brown-Vialetto-Van Laere syndrome 1, MIM# 211530 Tags metabolic treatable
Green Green List (high evidence)	SLC5A1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BeginNGS Expert Review Green Phenotypes Glucose/galactose malabsorption, MIM# 606824 Tags gastrointestinal treatable
Green Green List (high evidence)	SLC5A5	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Green Phenotypes Thyroid dyshormonogenesis 1, MIM# 274400 Tags endocrine treatable
Green Green List (high evidence)	SLC5A6	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Neurodegeneration, infantile-onset, biotin-responsive, MIM# 618973 Tags metabolic treatable
Green Green List (high evidence)	SLC5A7	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Myasthenic syndrome, congenital, 20, presynaptic, MIM# 617143 Tags neurological treatable
Green Green List (high evidence)	SLC7A7	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Green Phenotypes Lysinuric protein intolerance, MIM# 222700 Tags metabolic treatable
Green Green List (high evidence)	SLITRK6	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Deafness and myopia MIM#221200 Tags deafness
Green Green List (high evidence)	SLX4	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BeginNGS Expert Review Green Phenotypes Fanconi anaemia, complementation group P, MIM# 613951 Tags haematological treatable
Green Green List (high evidence)	SMAD2	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Expert Review Green Phenotypes Loeys-Dietz syndrome 6, MIM# 619656 Tags cardiac treatable
Green Green List (high evidence)	SMAD3	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category A gene Expert Review Green Phenotypes Loeys-Dietz syndrome 3, MIM# 613795 Tags cardiac treatable
Green Green List (high evidence)	SMARCD2	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Specific granule deficiency 2 MIM#617475 Tags immunological treatable
Green Green List (high evidence)	SMN1	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene BeginNGS Expert Review Green Phenotypes Spinal muscular atrophy type 1, MIM#253300 Tags clinical trial neurological treatable
Green Green List (high evidence)	SMPD1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Green Phenotypes Niemann-Pick disease, type A, MIM# 257200 Niemann-Pick disease, type B, MIM# 607616 Tags metabolic treatable
Green Green List (high evidence)	SNX10	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Osteopetrosis, autosomal recessive 8 MIM#615085 Tags skeletal treatable
Green Green List (high evidence)	SP110	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Green Phenotypes Hepatic veno-occlusive disease with immunodeficiency MIM#235550 Tags immunological treatable
Green Green List (high evidence)	SPR	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Green Phenotypes Dystonia, dopa-responsive, due to sepiapterin reductase deficiency, MIM# 612716 Tags neurological treatable
Green Green List (high evidence)	SRP54	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BeginNGS Expert Review Green Phenotypes Neutropenia, severe congenital, 8, autosomal dominant, MIM# 618752 Tags immunological treatable
Green Green List (high evidence)	STAR	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene BeginNGS Expert Review Green Phenotypes Congenital lipoid adrenal hyperplasia, MIM#201710 Tags endocrine treatable
Green Green List (high evidence)	STAT1	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Immunodeficiency 31B, mycobacterial and viral infections, autosomal recessive MIM#613796 Tags immunological treatable
Green Green List (high evidence)	STAT3	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category A gene Expert Review Green Phenotypes Autoimmune disease, multisystem, infantile-onset, 1 MIM# 615952 Tags immunological treatable
Green Green List (high evidence)	STIM1	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Immunodeficiency 10 MIM612783 Tags immunological treatable
Green Green List (high evidence)	STK4	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes T-cell immunodeficiency, recurrent infections, autoimmunity, and cardiac malformations MIM#614868 Tags immunological treatable
Green Green List (high evidence)	STX11	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene BeginNGS Expert Review Green Phenotypes Haemophagocytic lymphohistiocytosis, familial, 4, MIM#603552 Tags immunological treatable
Green Green List (high evidence)	STX16	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed)	Sources Expert list Expert Review Green Phenotypes Pseudohypoparathyroidism, type IB MIM#603233 Tags endocrine treatable
Green Green List (high evidence)	STXBP2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene BeginNGS Expert Review Green Phenotypes Hemophagocytic lymphohistiocytosis, familial, 5, MIM# 613101 Tags immunological treatable
Green Green List (high evidence)	SYT2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Myasthenic syndrome, congenital, 7B, presynaptic, autosomal recessive MIM#619461 Tags neurological treatable
Green Green List (high evidence)	TANGO2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Expert Review Green Phenotypes Metabolic encephalomyopathic crises, recurrent, with rhabdomyolysis, cardiac arrhythmias, and neurodegeneration, MIM# 616878 Tags metabolic treatable
Green Green List (high evidence)	TAT	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene BeginNGS Expert Review Green Phenotypes Tyrosinemia, type II, MIM#276600 Tags metabolic treatable
Green Green List (high evidence)	TBL1X	1 review 1 green	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert list Expert Review Green Phenotypes Hypothyroidism, congenital, nongoitrous, 8 MIM#301033 Tags endocrine treatable
Green Green List (high evidence)	TBX19	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BeginNGS Expert Review Green Phenotypes Adrenocorticotropic hormone deficiency, MIM#201400 Tags endocrine treatable
Green Green List (high evidence)	TCF3	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources BeginNGS Expert Review Green Phenotypes Agammaglobulinaemia 8, autosomal dominant, MIM# 616941 Agammaglobulinaemia 8B, autosomal recessive, MIM# 619824 Tags immunological treatable
Green Green List (high evidence)	TCIRG1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Green Phenotypes Osteopetrosis, autosomal recessive 1, MIM# 259700 Tags skeletal treatable
Green Green List (high evidence)	TCN2	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources BeginNGS Expert Review Green Phenotypes Transcobalamin II deficiency MIM# 275350 Tags metabolic treatable
Green Green List (high evidence)	TECTA	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Green Phenotypes Deafness, autosomal recessive 21 603629 Deafness, autosomal dominant 8/12 601543 Tags deafness
Green Green List (high evidence)	TF	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Atransferrinemia MIM#209300 Tags haematological treatable
Green Green List (high evidence)	TG	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Green Phenotypes Thyroid dyshormonogenesis 3, MIM# 274700 Tags endocrine treatable
Green Green List (high evidence)	TGFB2	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources ClinGen Expert Review Green Phenotypes Loeys-Dietz syndrome 4, MIM# 614816 Tags cardiac treatable
Green Green List (high evidence)	TGFB3	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category C gene Expert Review Green Phenotypes Loeys-Dietz syndrome 5 , MIM#615582 Tags cardiac treatable
Green Green List (high evidence)	TGFBR1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category A gene Expert Review Green Phenotypes Loeys-Dietz syndrome 1, MIM# 609192 Tags cardiac treatable
Green Green List (high evidence)	TGFBR2	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category A gene Expert Review Green Phenotypes Loeys-Dietz syndrome 2, MIM# 610168 Tags cardiac treatable
Green Green List (high evidence)	TH	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene BeginNGS Expert Review Green Phenotypes Tyrosine hydroxylase deficiency, MIM#605407 Tags endocrine treatable
Green Green List (high evidence)	THRA	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category A gene Expert Review Green Phenotypes Hypothyroidism, congenital, nongoitrous, 6, MIM# 614450 Tags endocrine treatable
Green Green List (high evidence)	TK2	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Green Phenotypes Mitochondrial DNA depletion syndrome 2 (myopathic type), 609560 Tags metabolic treatable
Green Green List (high evidence)	TMC1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Green Phenotypes Deafness, autosomal recessive 7 MIM#600974 Tags deafness
Green Green List (high evidence)	TMEM38B	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Osteogenesis imperfecta, type XIV , MIM#615066 Tags skeletal treatable
Green Green List (high evidence)	TMIE	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Green Phenotypes Deafness, autosomal recessive 6 MIM#600971 Tags deafness
Green Green List (high evidence)	TMPRSS3	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Green Phenotypes deafness, autosomal recessive MIM#601072 Tags deafness
Green Green List (high evidence)	TNFRSF11A	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BeginNGS Expert Review Green Phenotypes Osteopetrosis, autosomal recessive 7 - MIM# 612301 Tags skeletal treatable
Green Green List (high evidence)	TP53	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category A gene Expert Review Green Phenotypes Li-Fraumeni syndrome MIM#151623 Tags cancer treatable
Green Green List (high evidence)	TPK1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Thiamine metabolism dysfunction syndrome 5 (episodic encephalopathy type) MIM#614458 Tags metabolic treatable
Green Green List (high evidence)	TPO	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Green Phenotypes Thyroid dyshormonogenesis 2A MIM#274500 Tags endocrine treatable
Green Green List (high evidence)	TPP1	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Green Phenotypes Ceroid lipofuscinosis, neuronal, 2 MIM#204500 (Batten disease) Tags for review metabolic treatable
Green Green List (high evidence)	TPRN	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category C gene Expert Review Green Phenotypes Deafness, autosomal recessive 79, MIM# 613307 Tags deafness
Green Green List (high evidence)	TRHR	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category C gene Expert Review Green Phenotypes Hypothyroidism, congenital, nongoitrous, 7, MIM# 618573 Tags endocrine treatable
Green Green List (high evidence)	TRIM28	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Phenotypes Wilms tumour, MONDO:0006058, TRIM28-related Tags cancer treatable
Green Green List (high evidence)	TRIOBP	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Green Phenotypes Deafness, autosomal recessive 28, MIM#609823 Tags deafness
Green Green List (high evidence)	TRMU	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Green Phenotypes Liver failure, transient infantile MIM# 613070 Tags liver treatable
Green Green List (high evidence)	TRPM6	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Hypomagnesemia 1, intestinal MIM#602014 Tags endocrine treatable
Green Green List (high evidence)	TSHB	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Green Phenotypes Hypothyroidism, congenital, nongoitrous 4, MIM#275100 Tags endocrine treatable
Green Green List (high evidence)	TSHR	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Green Phenotypes Hypothyroidism, congenital, nongoitrous, 1 - MIM#275200 Tags endocrine treatable
Green Green List (high evidence)	TTPA	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Green Phenotypes Ataxia with isolated vitamin E deficiency MIM#277460 Tags neurological treatable
Green Green List (high evidence)	TUBB1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Phenotypes Congenital hypothyroidism, MONDO:0018612, TUBB1-related Macrothrombocytopenia, autosomal dominant, TUBB1-related, OMIM # 613112 Tags endocrine treatable
Green Green List (high evidence)	UBE2T	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BeginNGS Expert Review Green Phenotypes Fanconi anaemia, complementation group T, MIM# 616435 Tags haematological treatable
Green Green List (high evidence)	UGT1A1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Green Phenotypes Crigler-Najjar syndrome, type I, MIM# 218800 Tags liver treatable
Green Green List (high evidence)	UMPS	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Orotic aciduria MIM#258900 Tags metabolic treatable
Green Green List (high evidence)	UNC13D	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene BeginNGS Expert Review Green Phenotypes Haemophagocytic lymphohistiocytosis, familial, 3, MIM#608898 Tags immunological treatable
Green Green List (high evidence)	UROS	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Green Phenotypes Porphyria, congenital erythropoietic MIM#263700 Tags haematological treatable
Green Green List (high evidence)	USH1C	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Green Phenotypes Usher syndrome type 1 MIM#276904 Tags deafness
Green Green List (high evidence)	USH1G	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Green Phenotypes Usher syndrome type 1 MIM#606943 Tags deafness
Green Green List (high evidence)	USH2A	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Green Phenotypes Usher Syndrome Type II MIM#276901 Tags deafness
Green Green List (high evidence)	VAMP1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category C gene BeginNGS Expert Review Green Phenotypes Myasthenic syndrome, congenital, 25, MIM# 618323 Tags neurological treatable
Green Green List (high evidence)	VDR	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Green Phenotypes Rickets, vitamin D-resistant, type IIA MIM#277440 Tags endocrine treatable
Green Green List (high evidence)	VHL	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category A gene Expert Review Green Phenotypes von Hippel-Lindau syndrome MIM#193300 Tags cancer treatable
Green Green List (high evidence)	VKORC1	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Vitamin K-dependent clotting factors, combined deficiency of, 2 MIM#607473 Tags haematological treatable
Green Green List (high evidence)	VPS45	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BeginNGS Expert Review Green Phenotypes Neutropenia, severe congenital, 5, autosomal recessive, MIM#615285 Tags immunological treatable
Green Green List (high evidence)	WAS	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources BabySeq Category A gene BeginNGS Expert Review Green Phenotypes Neutropenia, severe congenital, X-linked , MIM#300299 Thrombocytopaenia, X-linked, MIM# 313900 Wiskott-Aldrich syndrome, MIM# 301000 Tags haematological treatable
Green Green List (high evidence)	WDR1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Periodic fever, immunodeficiency, and thrombocytopenia syndrome MIM#150550 Tags haematological immunological treatable
Green Green List (high evidence)	WDR72	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Amelogenesis imperfecta, type IIA3, MIM# 613211 Distal RTA MONDO:0015827 Tags renal treatable
Green Green List (high evidence)	WHRN	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category C gene Expert Review Green Phenotypes Usher syndrome, type 2D, MIM# 611383 Deafness, autosomal recessive 31, MIM# 607084 Tags deafness
Green Green List (high evidence)	WIPF1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Wiskott-Aldrich syndrome 2 MIM#614493 Tags haematological immunological treatable
Green Green List (high evidence)	WNK1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category C gene Expert Review Green Phenotypes Pseudohypoaldosteronism 2C (PHA2C), MIM#614492 Tags endocrine treatable
Green Green List (high evidence)	WNK4	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Phenotypes Pseudohypoaldosteronism, type IIB MIM#614491 Tags endocrine treatable
Green Green List (high evidence)	WT1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category A gene BabySeq Category B gene Expert Review Green Phenotypes Wilms tumor, type 1, MIM#194070 Tags cancer treatable
Green Green List (high evidence)	XIAP	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources BeginNGS Expert Review Green Phenotypes Lymphoproliferative syndrome, X-linked, 2, MIM# 300635 Tags immunological treatable
Green Green List (high evidence)	XPA	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Green Phenotypes Xeroderma pigmentosum, group A MIM#278700 Tags clinical trial treatable
Green Green List (high evidence)	XPC	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Green Phenotypes Xeroderma pigmentosum, group C MIM#278720 Tags clinical trial treatable
Green Green List (high evidence)	ZAP70	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Green Phenotypes Immunodeficiency MIM#176947 Tags immunological treatable
Amber Amber List (moderate evidence)	ADAR	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Amber Phenotypes Aicardi-Goutieres syndrome 6, MIM# 615010 Tags clinical trial for review treatable
Amber Amber List (moderate evidence)	AGPAT2	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Amber Phenotypes Lipodystrophy, congenital generalized, type 1, MIM# 608594 Tags endocrine for review treatable
Amber Amber List (moderate evidence)	AMT	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Amber Phenotypes Glycine encephalopathy MIM#605899 Tags metabolic treatable
Amber Amber List (moderate evidence)	AP1B1	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Amber Phenotypes Keratitis-ichthyosis-deafness syndrome, autosomal recessive MIM#242150 Tags
Amber Amber List (moderate evidence)	AP3D1	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Amber Phenotypes Hermansky-Pudlak syndrome 10, MIM# 617050 Tags haematological treatable
Amber Amber List (moderate evidence)	CACNA1C	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category B gene BeginNGS Expert Review Amber Phenotypes Timothy syndrome, MIM# 601005 Brugada syndrome Long QT syndrome 8, MIM# 618447 Tags
Amber Amber List (moderate evidence)	CALM1	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources ClinGen Expert Review Amber Phenotypes Ventricular tachycardia, catecholaminergic polymorphic, 4, MIM# 614916 Tags cardiac treatable
Amber Amber List (moderate evidence)	CALM2	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources ClinGen Expert Review Amber Phenotypes Catecholaminergic polymorphic ventricular tachycardia MONDO:0017990 Tags cardiac treatable
Amber Amber List (moderate evidence)	CASQ2	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Amber Phenotypes Ventricular tachycardia, catecholaminergic polymorphic, 2, MIM# 611938 Tags cardiac treatable
Amber Amber List (moderate evidence)	CLN3	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Amber Phenotypes Ceroid lipofuscinosis, neuronal, 3, MIM# 204200 Tags clinical trial
Amber Amber List (moderate evidence)	CLN5	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Amber Phenotypes Ceroid lipofuscinosis, neuronal, 5, MIM# 256731 MONDO:0009745 Tags clinical trial
Amber Amber List (moderate evidence)	CLN6	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Amber Phenotypes Ceroid lipofuscinosis, neuronal, 6, MIM# 601780 Tags clinical trial
Amber Amber List (moderate evidence)	COL3A1	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category A gene Expert Review Amber Phenotypes Ehlers-Danlos syndrome, vascular type, MIM# 130050 Tags cardiac
Amber Amber List (moderate evidence)	COQ7	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BeginNGS Expert Review Amber Phenotypes Coenzyme Q10 deficiency, primary, 8, MIM# 616733 Tags for review
Amber Amber List (moderate evidence)	CP	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category B gene Expert Review Amber Phenotypes Aceruloplasminaemia, MIM#604290 Tags metabolic treatable
Amber Amber List (moderate evidence)	CRYAB	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category A gene BabySeq Category B gene Expert Review Amber Phenotypes Myofibrillar myopathy Cardiomyopathy, dilated Tags
Amber Amber List (moderate evidence)	DES	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category A gene BabySeq Category B gene Expert Review Amber Phenotypes Myopathy, myofibrillar Cardiomyopathy, dilated Tags
Amber Amber List (moderate evidence)	DMD	1 review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources BabySeq Category A gene BabySeq Category B gene BeginNGS Expert Review Amber Phenotypes Duchenne muscular dystrophy MIM#310200 Tags neurological
Amber Amber List (moderate evidence)	DSC2	1 review	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Sources BabySeq Category B gene Expert Review Amber Phenotypes Arrhythmogenic right ventricular dysplasia 11, MIM# 610476 Arrhythmogenic right ventricular dysplasia 11 with mild palmoplantar keratoderma and woolly hair, MIM# 610476 Tags cardiac treatable
Amber Amber List (moderate evidence)	DSG2	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category B gene Expert Review Amber Phenotypes Arrhythmogenic right ventricular dysplasia 10, MIM# 610193 Tags cardiac treatable
Amber Amber List (moderate evidence)	DSP	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene BabySeq Category B gene BeginNGS Expert Review Amber Phenotypes Arrhythmogenic right ventricular dysplasia 8, MIM# 607450 Tags cardiac treatable
Amber Amber List (moderate evidence)	ERCC6L2	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Expert Review Amber Phenotypes Bone marrow failure syndrome 2, MIM# 615715 Tags haematological treatable
Amber Amber List (moderate evidence)	F8	1 review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources BabySeq Category A gene BeginNGS Expert Review Amber Phenotypes Haemophilia A, MIM#306700 Tags haematological technically challenging treatable
Amber Amber List (moderate evidence)	GFAP	2 reviews 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category A gene Expert Review Amber Phenotypes Alexander disease, MIM#203450 Tags clinical trial
Amber Amber List (moderate evidence)	GJA5	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category B gene Expert Review Amber Phenotypes Atrial fibrillation Tags
Amber Amber List (moderate evidence)	GLDC	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Amber Phenotypes Glycine encephalopathy, MIM# 605899 Tags metabolic treatable
Amber Amber List (moderate evidence)	GNE	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Amber Phenotypes Nonaka myopathy, MIM# 605820 Tags for review neurological
Amber Amber List (moderate evidence)	GPD1L	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category B gene Expert Review Amber Phenotypes Brugada syndrome Tags
Amber Amber List (moderate evidence)	HBA1	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene BeginNGS Expert Review Amber Phenotypes Thalassaemia alpha, MIM#604131 Tags haematological technically challenging treatable
Amber Amber List (moderate evidence)	HBA2	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene BeginNGS Expert Review Amber Phenotypes Thalassemia, alpha, MIM#604131 Tags haematological technically challenging treatable
Amber Amber List (moderate evidence)	HGD	2 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Amber Phenotypes Alkaptonuria MIM#203500 Tags metabolic treatable
Amber Amber List (moderate evidence)	HMGCS2	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Amber Phenotypes HMG-CoA synthase-2 deficiency MIM#605911 Tags for review metabolic treatable
Amber Amber List (moderate evidence)	HNF1A	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BeginNGS Expert Review Amber Phenotypes MODY, type III , MIM#600496 Tags endocrine treatable
Amber Amber List (moderate evidence)	HNF4A	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category C gene BeginNGS Expert Review Amber Phenotypes Fanconi renotubular syndrome 4, with maturity-onset diabetes of the young, MIM# 616026 Hypoglycaemia, hyperinsulinaemic, MIM#125850 MODY, type I, OMIM # 125850 Tags endocrine for review
Amber Amber List (moderate evidence)	IARS	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Amber Phenotypes Growth retardation, impaired intellectual development, hypotonia, and hepatopathy, MIM#617093 Tags metabolic treatable
Amber Amber List (moderate evidence)	IFNGR1	1 review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert list Expert Review Amber Phenotypes Immunodeficiency 27A, mycobacteriosis, AR, MIM# 209950 Immunodeficiency 27B, mycobacteriosis, AD, MIM# 615978 Tags immunological treatable
Amber Amber List (moderate evidence)	IFNGR2	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Amber Phenotypes Immunodeficiency 28, mycobacteriosis, MIM# 614889 Tags immunological treatable
Amber Amber List (moderate evidence)	IKBKG	1 review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources BabySeq Category A gene Expert Review Amber Phenotypes Immunodeficiency 33 (300636) Tags for review immunological technically challenging treatable
Amber Amber List (moderate evidence)	JUP	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene BabySeq Category B gene Expert Review Amber Phenotypes Arrhythmogenic right ventricular dysplasia 12 MIM# 611528 Naxos disease MIM# 601214 Tags cardiac treatable
Amber Amber List (moderate evidence)	KCNE1	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category A gene BabySeq Category B gene Expert Review Amber Phenotypes Long QT syndrome-5 Jervell and Lange-Nielsen syndrome Tags
Amber Amber List (moderate evidence)	KCNE2	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category B gene Expert Review Amber Phenotypes Long QT syndrome-6 Tags
Amber Amber List (moderate evidence)	KRIT1	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Amber Phenotypes Cerebral cavernous malformations-1 MIM# 116860 Tags
Amber Amber List (moderate evidence)	LAMP2	3 reviews 2 green	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources BabySeq Category A gene Expert Review Amber Phenotypes Danon disease, MIM# 300257 Tags cardiac
Amber Amber List (moderate evidence)	LMNA	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category A gene BabySeq Category B gene Expert Review Amber Phenotypes Charcot-Marie-Tooth disease Emery-Dreifuss muscular dystrophy 2 Dilated cardiomyopathy Tags
Amber Amber List (moderate evidence)	LOX	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources ClinGen Expert Review Amber Phenotypes Aortic aneurysm, familial thoracic 10, MIM#617168 Tags cardiac treatable
Amber Amber List (moderate evidence)	MCFD2	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Amber Phenotypes Factor V and factor VIII, combined deficiency of, MIM# 613625 Tags haematological treatable
Amber Amber List (moderate evidence)	MEN1	2 reviews 1 green 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category A gene Expert Review Amber Phenotypes Multiple endocrine neoplasia 1, MIM#131100 Tags cancer treatable
Amber Amber List (moderate evidence)	MYH11	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category B gene Expert Review Amber Phenotypes Aortic aneurysm, familial thoracic 4, MIM#160745 Tags cardiac treatable
Amber Amber List (moderate evidence)	MYL2	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category B gene Expert Review Amber Phenotypes Cardiomyopathy, familial hypertrophic, 10 Tags
Amber Amber List (moderate evidence)	MYL3	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category B gene Expert Review Amber Phenotypes Cardiomyopathy, familial hypertrophic, 8 Tags
Amber Amber List (moderate evidence)	MYLK	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category B gene Expert Review Amber Phenotypes Aortic aneurysm, familial thoracic 7 Tags
Amber Amber List (moderate evidence)	NAXD	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Amber Phenotypes Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 2 MIM#618321 Tags metabolic treatable
Amber Amber List (moderate evidence)	NCF1	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene BeginNGS Expert Review Amber Phenotypes Chronic granulomatous disease, MIM#233700 Tags immunological technically challenging treatable
Amber Amber List (moderate evidence)	NLRP3	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Expert Review Amber Phenotypes 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 Tags immunological treatable
Amber Amber List (moderate evidence)	PKD1	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category A gene Expert Review Amber Phenotypes Polycystic kidney disease 1, MIM# 173900 Tags for review renal treatable
Amber Amber List (moderate evidence)	PKD2	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category A gene Expert Review Amber Phenotypes Polycystic kidney disease 2, MIM# 613095 Tags for review renal treatable
Amber Amber List (moderate evidence)	PKP2	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category B gene Expert Review Amber Phenotypes Arrhythmogenic right ventricular dysplasia 9, MIM# 609040 Tags cardiac for review treatable
Amber Amber List (moderate evidence)	PMS2	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category C gene Expert Review Amber Phenotypes Mismatch repair cancer syndrome 4, MIM# 619101 Tags cancer technically challenging treatable
Amber Amber List (moderate evidence)	PRKG1	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources ClinGen Expert Review Amber Phenotypes Aortic aneurysm, familial thoracic 8, MIM#615436 Tags cardiac treatable
Amber Amber List (moderate evidence)	PSPH	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BeginNGS Expert Review Amber Phenotypes Phosphoserine phosphatase deficiency, MIM# 614023 Tags for review
Amber Amber List (moderate evidence)	RBM20	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category B gene Expert Review Amber Phenotypes Cardiomyopathy, dilated, 1DD Tags
Amber Amber List (moderate evidence)	RNASEH2A	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Amber Phenotypes Aicardi-Goutieres syndrome 4, MIM# 610333 Tags
Amber Amber List (moderate evidence)	RNASEH2B	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Amber Phenotypes Aicardi-Goutieres syndrome 2, MIM# 610181 Tags for review neurological
Amber Amber List (moderate evidence)	RNASEH2C	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Amber Phenotypes Aicardi-Goutieres syndrome 3, MIM# 610329 Tags for review neurological
Amber Amber List (moderate evidence)	SAMHD1	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Amber Phenotypes Aicardi-Goutieres syndrome 5, MIM# 612952 Tags for review neurological treatable
Amber Amber List (moderate evidence)	SCN5A	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category B gene BeginNGS Expert Review Amber Phenotypes Long QT syndrome 3 (MIM#603830) Brugada syndrome 1, MIM# 601144 Tags cardiac treatable
Amber Amber List (moderate evidence)	SDHAF2	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category B gene Expert Review Amber Phenotypes Hereditary Paraganglioma-Pheochromocytoma Syndromes Tags
Amber Amber List (moderate evidence)	SDHB	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category B gene Expert Review Amber Phenotypes Hereditary Paraganglioma-Pheochromocytoma Syndromes Tags
Amber Amber List (moderate evidence)	SDHC	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category B gene Expert Review Amber Phenotypes Hereditary Paraganglioma-Pheochromocytoma Syndromes Tags
Amber Amber List (moderate evidence)	SGSH	2 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Amber Phenotypes Mucopolysaccharidosis type IIIA (Sanfilippo A), MIM# 252900 Tags clinical trial
Amber Amber List (moderate evidence)	SLC16A1	2 reviews 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources BabySeq Category C gene BeginNGS Expert Review Amber Phenotypes Hyperinsulinemic hypoglycemia, familial, 7, MIM# 610021 Monocarboxylate transporter 1 deficiency Tags for review metabolic
Amber Amber List (moderate evidence)	SLC16A2	1 review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources BabySeq Category A gene Expert Review Amber Phenotypes Allan-Herndon-Dudley syndrome, MIM# 300523 Tags clinical trial
Amber Amber List (moderate evidence)	SLC25A1	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources BeginNGS Expert Review Amber Phenotypes Combined D-2- and L-2-hydroxyglutaric aciduria MIM#: 615182, MONDO:0014072 Myasthenic syndrome, congenital, 23, presynaptic, MIM#618197, MONDO:0032596 Tags for review neurological
Amber Amber List (moderate evidence)	SLC35C1	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category C gene Expert Review Amber Phenotypes Congenital disorder of glycosylation, type IIc, MIM# 266265, MONDO:0009953 Tags for review metabolic
Amber Amber List (moderate evidence)	SLC39A14	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Hypermanganesemia with dystonia 2, MIM# 617013 Tags for review metabolic treatable
Amber Amber List (moderate evidence)	SLC6A5	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene BeginNGS Expert Review Amber Phenotypes Hyperekplexia 3, MIM#614618 Tags for review
Amber Amber List (moderate evidence)	SLC6A8	2 reviews 1 red	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources BabySeq Category A gene Expert Review Amber Phenotypes Cerebral creatine deficiency syndrome 1, MIM# 300352 Tags for review metabolic
Amber Amber List (moderate evidence)	SLC9A3	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Diarrhoea 8, secretory sodium, congenital, MiM# 616868 Tags for review
Amber Amber List (moderate evidence)	SMARCAL1	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Amber Phenotypes Schimke immune-osseous dysplasia MIM# 242900 Tags for review immunological
Amber Amber List (moderate evidence)	SNTA1	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category B gene Expert Review Amber Phenotypes Long QT syndrome Tags
Amber Amber List (moderate evidence)	SOX3	2 reviews	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert list Expert Review Amber Phenotypes Panhypopituitarism, X-linked MIM#312000 Tags endocrine for review treatable
Amber Amber List (moderate evidence)	SP7	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category C gene Expert Review Amber Phenotypes Osteogenesis imperfecta, type XII, MIM# 613849 Tags skeletal
Amber Amber List (moderate evidence)	SPTLC1	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category A gene Expert Review Amber Phenotypes Neuropathy, hereditary sensory and autonomic, type IA, MIM# 162400 Tags
Amber Amber List (moderate evidence)	STK11	2 reviews 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category A gene Expert Review Amber Phenotypes Peutz-Jeghers syndrome, MIM# 175200 Tags cancer for review treatable
Amber Amber List (moderate evidence)	STRC	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Amber Phenotypes Deafness, autosomal recessive 16, MIM# 603720 Tags deafness technically challenging
Amber Amber List (moderate evidence)	SUOX	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Amber Phenotypes Sulfite oxidase deficiency, MIM# 272300 Tags for review metabolic
Amber Amber List (moderate evidence)	TECRL	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources ClinGen Expert Review Amber Phenotypes Ventricular tachycardia, catecholaminergic polymorphic, 3, MIM# 614021 Tags cardiac treatable
Amber Amber List (moderate evidence)	TERC	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category B gene Expert Review Amber Phenotypes Dyskeratosis congenita Tags non-coding gene
Amber Amber List (moderate evidence)	TERT	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category B gene Expert Review Amber Phenotypes Dyskeratosis congenita Tags
Amber Amber List (moderate evidence)	TINF2	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category B gene Expert Review Amber Phenotypes Dyskeratosis congenita Tags
Amber Amber List (moderate evidence)	TMEM165	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Amber Phenotypes Congenital disorder of glycosylation, type IIk MIM#614727 Tags metabolic
Amber Amber List (moderate evidence)	TNFRSF11B	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Amber Phenotypes Paget disease of bone 5, juvenile-onset MIM#239000 Tags for review skeletal
Amber Amber List (moderate evidence)	TNFSF11	2 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Amber Phenotypes Osteopetrosis, autosomal recessive 2 MIM#259710 Tags for review skeletal
Amber Amber List (moderate evidence)	TNNC1	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category B gene Expert Review Amber Phenotypes Cardiomyopathy, dilated Tags
Amber Amber List (moderate evidence)	TNNI3	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category B gene Expert Review Amber Phenotypes Familial hypertrophic cardiomyopathy Cardiomyopathy, dilated Tags
Amber Amber List (moderate evidence)	TNNT2	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category B gene Expert Review Amber Phenotypes Familial hypertrophic cardiomyopathy Cardiomyopathy, dilated Tags
Amber Amber List (moderate evidence)	TOP2B	2 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Amber Phenotypes B-cell immunodeficiency, distal limb anomalies, and urogenital malformations MIM#609296 Tags
Amber Amber List (moderate evidence)	TPM1	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category B gene Expert Review Amber Phenotypes Cardiomyopathy, hypertrophic Tags
Amber Amber List (moderate evidence)	TRDN	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category C gene Expert Review Amber Phenotypes Cardiac arrhythmia syndrome, with or without skeletal muscle weakness, MIM# 615441 Tags cardiac treatable
Amber Amber List (moderate evidence)	TREX1	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Amber Phenotypes Aicardi-Goutieres syndrome 1 MIM#225750 Tags for review neurological treatable
Amber Amber List (moderate evidence)	TRNT1	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Amber Phenotypes Sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay MIM#616084 Tags immunological treatable
Amber Amber List (moderate evidence)	TRPM4	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category A gene Expert Review Amber Phenotypes Progressive familial heart block, type IB 604559 Tags cardiac for review
Amber Amber List (moderate evidence)	TTN	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category A gene BabySeq Category B gene Expert Review Amber Phenotypes Centronuclear myopathy Cardiomyopathy, dilated Tags
Amber Amber List (moderate evidence)	UNG	2 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Amber Phenotypes Immunodeficiency with hyper IgM, type 5 MIM#608106 Tags immunological treatable
Amber Amber List (moderate evidence)	USP18	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Amber Phenotypes Pseudo-TORCH syndrome 2 MIM#617397 Tags
Amber Amber List (moderate evidence)	VCL	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category B gene Expert Review Amber Phenotypes Cardiomyopathy, dilated Tags
Amber Amber List (moderate evidence)	VWF	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category B gene Expert Review Amber Phenotypes von Willebrand disease Tags
Amber Amber List (moderate evidence)	ZBTB24	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Amber Phenotypes Immunodeficiency-centromeric instability-facial anomalies syndrome 2 MIM#614069 Tags immunological treatable
Red Red List (low evidence)	AARS	1 review 1 red	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Red Phenotypes Epileptic encephalopathy, early infantile, 29, MIM# 616339 Charcot-Marie-Tooth disease, axonal, type 2N, MIM# 613287 Tags
Red Red List (low evidence)	AARS2	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category C gene Expert Review Red Phenotypes Leukoencephalopathy, and ovarian failure in females Tags
Red Red List (low evidence)	ABAT	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category C gene Expert Review Red Phenotypes GABA-transaminase deficiency Tags
Red Red List (low evidence)	ABCA12	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Red Phenotypes Ichthyosis, congenital, autosomal recessive 4A (MIM#601277) Ichthyosis, congenital, autosomal recessive 4B (harlequin) (MIM#242500) Tags
Red Red List (low evidence)	ABCA3	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Red Phenotypes Surfactant metabolism dysfunction, pulmonary, 3, MIM# 610921 Tags
Red Red List (low evidence)	ABCA4	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Red Phenotypes Cone-rod dystrophy 3, 604116 Fundus flavimaculatus, 248200 Retinal dystrophy, early-onset severe, 248200 Retinitis pigmentosa 19, 601718 Stargardt disease 1, 248200 Tags
Red Red List (low evidence)	ABCB11	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Red Phenotypes Cholestasis, progressive familial intrahepatic 2, MIM# 601847 Cholestasis, benign recurrent intrahepatic, 2, MIM# 605479 Tags
Red Red List (low evidence)	ABCB4	1 review 1 red	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Red Phenotypes Cholestasis, progressive familial intrahepatic 3 MIM#602347 disorder of bile acid metabolism Cholestasis, intrahepatic, of pregnancy, 3 (MIM#614972) Gallbladder disease 1 (MIM#600803) Tags
Red Red List (low evidence)	ABCB7	0 reviews	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources BabySeq Category C gene Expert Review Red Phenotypes Sideroblastic anaemia and ataxia Tags
Red Red List (low evidence)	ABCC2	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category C gene Expert Review Red Phenotypes Dubin-Johnson syndrome, MIM# 237500 Tags
Red Red List (low evidence)	ABCC9	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category A gene BabySeq Category B gene BabySeq Category C gene Expert Review Red Phenotypes Atrial fibrillation, familial Cardiomyopathy, dilated Hypertrichotic osteochondrodysplasia Tags
Red Red List (low evidence)	ABHD12	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Red Phenotypes Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract MIM#612674 Tags
Red Red List (low evidence)	ACAD8	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Red Phenotypes Isobutyryl-CoA dehydrogenase deficiency MIM#611283 Tags
Red Red List (low evidence)	ACADL	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category C gene Expert Review Red Phenotypes Sudden infant death Tags
Red Red List (low evidence)	ACADS	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category C gene Expert Review Red Phenotypes Acyl-CoA dehydrogenase, short-chain, deficiency of 201470 Tags
Red Red List (low evidence)	ACADSB	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category C gene Expert Review Red Phenotypes 2-methylbutyrylglycinuria MIM#610006 Tags
Red Red List (low evidence)	ACBD5	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category C gene Expert Review Red Phenotypes Thrombocytopaenia Tags
Red Red List (low evidence)	ACE	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Red Phenotypes Renal tubular dysgenesis, MIM# 267430 Tags
Red Red List (low evidence)	ACO2	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category C gene Expert Review Red Phenotypes Cerebellar-retinal degeneration, infantile Tags
Red Red List (low evidence)	ACOX1	1 review 1 red	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Red Phenotypes Peroxisomal acyl-CoA oxidase deficiency, MIM# 264470 Mitchell syndrome, MIM# 618960 Tags
Red Red List (low evidence)	ACSF3	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Red Phenotypes Combined malonic and methylmalonic aciduria Tags
Red Red List (low evidence)	ACTA1	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category A gene BabySeq Category C gene Expert Review Red Phenotypes Nemaline myopathy Congenital myopathy with fiber type disproportion Tags
Red Red List (low evidence)	ACTB	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category A gene BabySeq Category C gene Expert Review Red Phenotypes Baraitser-Winter syndrome Neutrophil dysfunction and recurrent infection Tags
Red Red List (low evidence)	ACTC1	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category B gene BabySeq Category C gene Expert Review Red Phenotypes Atrial septal defect Cardiomyopathy, familial hypertrophic Left ventricular noncompaction Cardiomyopathy, dilated Tags
Red Red List (low evidence)	ACTG1	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category A gene Expert Review Red Phenotypes Baraitser-Winter syndrome 2MIM#614583 Deafness, autosomal dominant 20/26 MIM#604717 Tags
Red Red List (low evidence)	ACTG2	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category A gene Expert Review Red Phenotypes Visceral myopathy, MIM#155310 Megacystis-microcolon-intestinal hypoperistalsis syndrome 5, MIM# 619431 Tags
Red Red List (low evidence)	ACTN1	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category A gene Expert Review Red Phenotypes Bleeding disorder, platelet-type, 15, MIM# 615193 Tags
Red Red List (low evidence)	ACTN2	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category B gene BabySeq Category C gene Expert Review Red Phenotypes Cardiomyopathy, familial hypertrophic Cardiomyopathy, dilated Tags
Red Red List (low evidence)	ACTN4	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category A gene Expert Review Red Phenotypes Glomerulosclerosis, focal segmental, 1, MIM#603278 Tags
Red Red List (low evidence)	ACVR1	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category A gene Expert Review Red Phenotypes Fibrodysplasia ossificans progressiva, MIM# 135100 Tags clinical trial for review
Red Red List (low evidence)	ACVR2B	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category C gene Expert Review Red Phenotypes Left-right axis malformation Tags
Red Red List (low evidence)	ADAM17	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category C gene Expert Review Red Phenotypes Neonatal inflammatory skin and bowel disease Tags
Red Red List (low evidence)	ADAMTS2	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category C gene Expert Review Red Phenotypes Ehlers-Danlos syndrome VIIc Tags
Red Red List (low evidence)	ADAMTSL2	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Red Phenotypes Geleophysic dysplasia 1, MIM# 231050 Tags
Red Red List (low evidence)	ADGRG1	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Red Phenotypes Polymicrogyria, bilateral frontoparietal, MIM#606854 Tags
Red Red List (low evidence)	ADK	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Red Phenotypes Hypermethioninemia due to adenosine kinase deficiency, MIM# 614300 Tags
Red Red List (low evidence)	AGA	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Red Phenotypes Aspartylglucosaminuria, MIM# 208400 MONDO:0008830 Tags
Red Red List (low evidence)	AGPS	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category C gene Expert Review Red Phenotypes Rhizomelic chondrodysplasia punctata, type 3 Tags
Red Red List (low evidence)	AGT	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category C gene Expert Review Red Phenotypes Renal tubular dysgenesis Tags
Red Red List (low evidence)	AGTR1	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category C gene Expert Review Red Phenotypes Renal tubular dysgenesis Tags
Red Red List (low evidence)	AHI1	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Red Phenotypes Joubert syndrome 3, MIM# 608629 Tags
Red Red List (low evidence)	AHSP	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category C gene Expert Review Red Phenotypes Thalassaemia Tags
Red Red List (low evidence)	AIFM1	1 review 1 red	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources BabySeq Category A gene Expert Review Red Phenotypes Combined oxidative phosphorylation deficiency 6, 300816 Cowchock syndrome, 310490 Deafness, X-linked 5, 300614 Spondyloepimetaphyseal dysplasia, X-linked, with hypomyelinating leukodystrophy, 300232 Tags
Red Red List (low evidence)	AIP	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category B gene Expert Review Red Phenotypes Pituitary adenoma predisposition, MIM# 102200 Tags
Red Red List (low evidence)	AK1	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category C gene Expert Review Red Phenotypes Hemolytic anemia due to adenylate kinase deficiency Tags
Red Red List (low evidence)	AKAP9	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category C gene Expert Review Red Phenotypes Long QT syndrome Tags
Red Red List (low evidence)	AKT2	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category C gene Expert Review Red Phenotypes Severe insulin resistance and diabetes mellitus Tags
Red Red List (low evidence)	AKT3	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category C gene Expert Review Red Phenotypes Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome Tags
Red Red List (low evidence)	ALAS2	1 review 1 red	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources BabySeq Category A gene Expert Review Red Phenotypes Anaemia, sideroblastic, 1, MIM# 300751 Protoporphyria, erythropoietic, X-linked, MIM# 300752 Tags
Red Red List (low evidence)	ALB	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Red Phenotypes Analbuminemia, MIM# 616000 Tags
Red Red List (low evidence)	ALDH18A1	1 review 1 red	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Red Phenotypes 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 Tags
Red Red List (low evidence)	ALDH1A2	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category C gene Expert Review Red Phenotypes Tetralogy of Fallot Tags
Red Red List (low evidence)	ALDH3A2	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Red Phenotypes Sjogren-Larsson syndrome MIM#270200 Tags
Red Red List (low evidence)	ALDH5A1	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Red Phenotypes Succinic semialdehyde dehydrogenase deficiency, MIM# 271980 Tags
Red Red List (low evidence)	ALDOA	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category C gene Expert Review Red Phenotypes Aldolase A deficiency Tags
Red Red List (low evidence)	ALG1	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Red Phenotypes Congenital disorder of glycosylation, type Ik 608540 Tags
Red Red List (low evidence)	ALG11	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category C gene Expert Review Red Phenotypes Congenital disorder of glycosylation type 1P Tags
Red Red List (low evidence)	ALG12	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Red Phenotypes Congenital disorder of glycosylation, type Ig, MIM# 607143 Tags
Red Red List (low evidence)	ALG14	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources BeginNGS Expert Review Red Phenotypes 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 Tags for review
Red Red List (low evidence)	ALG2	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category C gene Expert Review Red Phenotypes Congenital disorder of glycosylation, type Ii Tags
Red Red List (low evidence)	ALG3	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Red Phenotypes Congenital disorder of glycosylation, type Id, MIM# 601110 Tags
Red Red List (low evidence)	ALG6	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Red Phenotypes Congenital disorder of glycosylation, type Ic (MIM#603147) Tags
Red Red List (low evidence)	ALG8	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Red Phenotypes Congenital disorder of glycosylation, type Ih, MIM# 608104 Tags
Red Red List (low evidence)	ALG9	1 review 1 red	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources BabySeq Category C gene Expert Review Red Phenotypes Gillessen-Kaesbach-Nishimura syndrome, MIM# 263210 Congenital disorder of glycosylation, type Il, MIM#608776 Tags
Red Red List (low evidence)	ALK	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Red Phenotypes {Neuroblastoma, susceptibility to, 3} MIM#613014 Tags cancer
Red Red List (low evidence)	ALMS1	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Red Phenotypes Alstrom syndrome, MIM# 203800 Tags
Red Red List (low evidence)	ALOX12B	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Red Phenotypes Ichthyosis, congenital, autosomal recessive 2, MIM# 242100 Tags
Red Red List (low evidence)	ALOXE3	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Red Phenotypes Ichthyosis, congenital, autosomal recessive 3, MIM#606545 Tags
Red Red List (low evidence)	ALS2	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Red Phenotypes Infantile onset ascending spastic paralysis (MIM#607225) Juvenile amyotrophic lateral sclerosis 2 (MIM#205100) Juvenile primary lateral sclerosis (MIM#606353) Tags
Red Red List (low evidence)	ALX4	1 review 1 red	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Red Phenotypes Frontonasal dysplasia 2 MIM# 613451 Parietal foramina 2 MIM# 609597 {Craniosynostosis 5, susceptibility to} MIM#615529 Tags
Red Red List (low evidence)	AMELX	1 review 1 red	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources BabySeq Category A gene Expert Review Red Phenotypes Amelogenesis imperfecta, type 1E, MIM# 301200 Tags
Red Red List (low evidence)	AMPD1	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category C gene Expert Review Red Phenotypes Adenosine monophosphate deaminase deficiency Tags
Red Red List (low evidence)	ANK1	1 review 1 red	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Red Phenotypes Spherocytosis, type 1 MIM#182900 Tags
Red Red List (low evidence)	ANK2	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category B gene Expert Review Red Phenotypes Complex neurodevelopmental disorder, MONDO:0100038 Tags
Red Red List (low evidence)	ANKH	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category A gene Expert Review Red Phenotypes Craniometaphyseal dysplasia MIM#123000 Tags
Red Red List (low evidence)	ANKRD1	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category B gene BabySeq Category C gene Expert Review Red Phenotypes Cardiomyopathy, hypertrophic Cardiomyopathy, dilated Tags
Red Red List (low evidence)	ANKRD26	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category A gene Expert Review Red Phenotypes Thrombocytopaenia 2, MIM# 188000 Tags
Red Red List (low evidence)	ANO10	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Red Phenotypes Spinocerebellar ataxia, autosomal recessive 10, MIM#613728 Tags
Red Red List (low evidence)	ANO5	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category A gene BabySeq Category C gene Expert Review Red Phenotypes Muscular dystrophy, limb-girdle, type 2L Gnathodiaphyseal dysplasia Tags
Red Red List (low evidence)	ANTXR2	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Red Phenotypes Hyaline fibromatosis syndrome, MIM# 228600 MONDO:0009229 Tags
Red Red List (low evidence)	AP1S3	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category C gene Expert Review Red Phenotypes Pustular psoriasis Tags
Red Red List (low evidence)	AP4B1	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Expert Review Red Phenotypes Spastic paraplegia 47, autosomal recessive, MIM# 614066 Tags
Red Red List (low evidence)	AP4E1	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Expert Review Red Phenotypes Spastic paraplegia 51, autosomal recessive, MIM# 613744 Tags
Red Red List (low evidence)	AP4M1	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category C gene Expert Review Red Phenotypes Spastic paraplegia 50, autosomal recessive, MIM# 612936 Tags
Red Red List (low evidence)	APC	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category A gene Expert Review Red Phenotypes Adenomatous polyposis coli, MIM# 175100 Tags cancer treatable
Red Red List (low evidence)	APOA5	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Red Phenotypes Hyperchylomicronaemia, late-onset, MIM# 144650 Tags treatable
Red Red List (low evidence)	APOB	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category A gene Expert Review Red Phenotypes Hypercholesterolaemia, familial, 2, MIM# 144010 Tags for review treatable
Red Red List (low evidence)	APOE	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category C gene Expert Review Red Phenotypes Sea-blue histiocyte disease Tags
Red Red List (low evidence)	APP	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category C gene Expert Review Red Phenotypes Alzheimer disease 1, familial Tags
Red Red List (low evidence)	APRT	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category C gene Expert Review Red Phenotypes Adenine phosphoribosyltransferase deficiency, MIM# 614723 Tags treatable
Red Red List (low evidence)	APTX	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Red Phenotypes Ataxia, early-onset, with oculomotor apraxia and hypoalbuminaemia MIM#208920 Tags
Red Red List (low evidence)	AR	1 review 1 red	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources BabySeq Category A gene BabySeq Category C gene Expert Review Red Phenotypes Hypospadias 1, X-linked MIM#30063 Androgen insensitivity MIM#300068 Androgen insensitivity, partial, with or without breast cancer MIM#312300 Tags
Red Red List (low evidence)	ARFGEF2	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Red Phenotypes Periventricular heterotopia with microcephaly (MIM#608097) Tags
Red Red List (low evidence)	ARHGAP31	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category C gene Expert Review Red Phenotypes Syndromic cutis aplasia & limb anomalies Tags
Red Red List (low evidence)	ARHGEF9	0 reviews	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources BabySeq Category C gene Expert Review Red Phenotypes Hyperekplexia and epilepsy Tags
Red Red List (low evidence)	ARID1A	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category C gene Expert Review Red Phenotypes Coffin-Siris syndrome Tags
Red Red List (low evidence)	ARID1B	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category A gene Expert Review Red Phenotypes Coffin-Siris syndrome 1 MIM#135900 Tags
Red Red List (low evidence)	ARL13B	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category C gene Expert Review Red Phenotypes Joubert syndrome Tags
Red Red List (low evidence)	ARMC4	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Red Phenotypes Ciliary dyskinesia, primary, 23, MIM# 615451 Tags
Red Red List (low evidence)	ARSE	0 reviews	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources BabySeq Category C gene Expert Review Red Phenotypes Chondrodysplasia punctata, X-linked recessive Tags
Red Red List (low evidence)	ARX	1 review 1 red	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources BabySeq Category A gene Expert Review Red Phenotypes Lissencephaly, X-linked 2, MIM# 300215 Tags
Red Red List (low evidence)	ASCL1	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category C gene Expert Review Red Phenotypes Congenital central hypoventilation Tags
Red Red List (low evidence)	ASNS	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category C gene Expert Review Red Phenotypes Microcephaly, intellectual disability, cerebral atrophy & intractable seizures Tags
Red Red List (low evidence)	ASPA	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Red Phenotypes Canavan disease MIM#271900 Tags
Red Red List (low evidence)	ATIC	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category C gene Expert Review Red Phenotypes AICA-Ribosiduria Tags
Red Red List (low evidence)	ATM	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Red Phenotypes Ataxia-telangiectasia, MIM# 208900 Tags
Red Red List (low evidence)	ATN1	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category C gene Expert Review Red Phenotypes Dentatorubral-pallidoluysian atrophy 1 Tags
Red Red List (low evidence)	ATP1A2	1 review 1 red	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Red Phenotypes 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 Tags
Red Red List (low evidence)	ATP1A3	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category C gene Expert Review Red Phenotypes Rapid-onset dystonia-parkinsonism Tags
Red Red List (low evidence)	ATP2A1	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Red Phenotypes Brody myopathy, OMIM # 601003 Tags
Red Red List (low evidence)	ATP2B2	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Red Phenotypes Deafness, autosomal dominant 82, MIM# 619804 Tags
Red Red List (low evidence)	ATP6AP2	0 reviews	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources BabySeq Category C gene Expert Review Red Phenotypes X-linked recessive intellectual deficit - epilepsy Tags
Red Red List (low evidence)	ATP6V0A2	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Red Phenotypes Cutis laxa, autosomal recessive, type IIA, MIM# 219200 Wrinkly skin syndrome, MIM#278250 Tags
Red Red List (low evidence)	ATP8B1	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Red Phenotypes Cholestasis, progressive familial intrahepatic 1, MIM# 211600 Cholestasis, benign recurrent intrahepatic, MIM# 243300 Tags
Red Red List (low evidence)	ATR	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category C gene Expert Review Red Phenotypes Seckel syndrome Tags
Red Red List (low evidence)	ATRX	1 review 1 red	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources BabySeq Category A gene Expert Review Red Phenotypes ATR-X-related syndrome MONDO:0016980 Tags
Red Red List (low evidence)	AUH	2 reviews 2 red	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Red Phenotypes 3-methylglutaconic aciduria, type I , MIM#250950 Tags
Red Red List (low evidence)	AXL	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category C gene Expert Review Red Phenotypes Hypogonadotropic hypogonadism Tags
Red Red List (low evidence)	B3GAT3	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category C gene Expert Review Red Phenotypes Multiple joint dislocations, short stature, craniofacial dysmorphism, and congenital heart defects Tags
Red Red List (low evidence)	B3GLCT	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Red Phenotypes Peters-plus syndrome, MIM#261540 Tags
Red Red List (low evidence)	B4GALT1	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category C gene Expert Review Red Phenotypes CDG syndrome type IId Tags
Red Red List (low evidence)	B9D2	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category C gene Expert Review Red Phenotypes Meckel syndrome Tags
Red Red List (low evidence)	BAAT	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Red Phenotypes Bile acid conjugation defect 1, MIM# 619232 Tags
Red Red List (low evidence)	BAG3	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category B gene BabySeq Category C gene Expert Review Red Phenotypes Myopathy, myofibrillar Cardiomyopathy, dilated Tags
Red Red List (low evidence)	BANF1	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category C gene Expert Review Red Phenotypes Progeroid syndrome Tags
Red Red List (low evidence)	BARD1	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category C gene Expert Review Red Phenotypes Tetralogy of Fallot Tags
Red Red List (low evidence)	BBS1	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Red Phenotypes Bardet-Biedl syndrome 1, MIM# 209900 Tags
Red Red List (low evidence)	BBS10	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Red Phenotypes Bardet-Biedl syndrome 10, MIM# 615987 Tags
Red Red List (low evidence)	BBS12	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Red Phenotypes Bardet-Biedl syndrome 12, MIM# 615989 Tags
Red Red List (low evidence)	BBS2	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Red Phenotypes Bardet-Biedl syndrome 2, MIM# 615981 Tags
Red Red List (low evidence)	BBS4	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Red Phenotypes Bardet-Biedl syndrome 4, MIM#615982 Tags
Red Red List (low evidence)	BBS5	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Red Phenotypes Bardet-Biedl syndrome 5, MIM#615983 Tags
Red Red List (low evidence)	BBS7	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Red Phenotypes Bardet-Biedl syndrome 7, MIM# 615984 Tags
Red Red List (low evidence)	BBS9	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Red Phenotypes Bardet-Biedl syndrome 9, MIM#615986 Tags
Red Red List (low evidence)	BCL9	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category C gene Expert Review Red Phenotypes Congenital heart disease Tags
Red Red List (low evidence)	BCS1L	2 reviews 2 red	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Red Phenotypes Bjornstad syndrome, MIM# 262000 Leigh syndrome, MIM# 256000 BCS1L-related mitochondrial disease Tags
Red Red List (low evidence)	BDNF	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category C gene Expert Review Red Phenotypes Central hypoventilation syndrome Tags
Red Red List (low evidence)	BICD2	1 review 1 red	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Red Phenotypes 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 Tags
Red Red List (low evidence)	BIN1	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Red Phenotypes Centronuclear myopathy 2, MIM# 255200 Tags
Red Red List (low evidence)	BLM	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Red Phenotypes Bloom syndrome, MIM# 210900 Tags
Red Red List (low evidence)	BLOC1S3	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category C gene Expert Review Red Phenotypes Hermansky-Pudlak syndrome 8 Tags
Red Red List (low evidence)	BLOC1S6	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category C gene Expert Review Red Phenotypes Hermansky-pudlak syndrome 9 Tags
Red Red List (low evidence)	BMPR1A	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category A gene BabySeq Category C gene Expert Review Red Phenotypes Polyposis, juvenile intestinal, MIM# 174900 Tags
Red Red List (low evidence)	BMPR2	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category B gene Expert Review Red Phenotypes Pulmonary hypertension, familial primary, 1, with or without HHT, MIM# 178600 Tags
Red Red List (low evidence)	BNC2	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category C gene Expert Review Red Phenotypes Total anomalous pulmonary venous return Tags
Red Red List (low evidence)	BPGM	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category C gene Expert Review Red Phenotypes Erythrocytosis due to bisphosphoglycerate mutase deficiency Tags
Red Red List (low evidence)	BRAF	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category A gene BabySeq Category C gene Expert Review Red Phenotypes Cardiofaciocutaneous syndrome, MIM# 115150 Noonan syndrome 7, MIM# 613706 Tags
Red Red List (low evidence)	BVES	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category C gene Expert Review Red Phenotypes Congenital heart disease Tags
Red Red List (low evidence)	C8A	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources BeginNGS Expert Review Red Phenotypes C8 deficiency, type I, MIM# 613790 Tags
Red Red List (low evidence)	CACNA1A	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category A gene Expert Review Red Phenotypes Episodic ataxia, type 2, MIM# 108500 Tags
Red Red List (low evidence)	CACNA1D	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category C gene BeginNGS Expert Review Red Phenotypes Primary aldosteronism, seizures, and neurologic abnormalities, MIM# 615474 Sinoatrial node dysfunction and deafness Tags
Red Red List (low evidence)	CACNA1F	1 review 1 red	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources BabySeq Category A gene Expert Review Red Phenotypes Aland Island eye disease MIM#300600 Cone-rod dystrophy, X-linked, 3 MIM#300476 Night blindness, congenital stationary (incomplete), 2A, X-linked MIM#300071 Tags
Red Red List (low evidence)	CACNA2D1	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category C gene Expert Review Red Phenotypes Brugada syndrome Tags
Red Red List (low evidence)	CACNB2	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category C gene Expert Review Red Phenotypes Brugada syndrome Tags
Red Red List (low evidence)	CAPN3	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Red Phenotypes Muscular dystrophy, limb-girdle, autosomal recessive 1, MIM# 253600 Tags
Red Red List (low evidence)	CARS2	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category C gene Expert Review Red Phenotypes Epileptic encephalopathy Tags
Red Red List (low evidence)	CASK	1 review 1 red	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources BabySeq Category A gene Expert Review Red Phenotypes 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 Tags
Red Red List (low evidence)	CASP10	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category C gene Expert Review Red Phenotypes Autoimmune lymphoproliferative syndrome II Tags
Red Red List (low evidence)	CAV3	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category A gene BabySeq Category C gene Expert Review Red Phenotypes Myopathy, distal, Tateyama type MIM#614321 Rippling muscle disease 2 MIM#606072 Creatine phosphokinase, elevated serum MIM#123320 Tags
Red Red List (low evidence)	CAVIN4	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category C gene Expert Review Red Phenotypes Cardiomyopathy, dilated Tags
Red Red List (low evidence)	CBL	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category A gene Expert Review Red Phenotypes Noonan syndrome-like disorder with or without juvenile myelomonocytic leukaemia, MIM# 613563 Tags
Red Red List (low evidence)	CC2D2A	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Red Phenotypes Joubert syndrome 9, MIM# 612285 Meckel syndrome 6, MIM# 612284 COACH syndrome 2, MIM# 619111 Tags
Red Red List (low evidence)	CCDC103	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category C gene Expert Review Red Phenotypes Primary ciliary dyskinesia Tags
Red Red List (low evidence)	CCDC39	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Red Phenotypes Ciliary dyskinesia, primary, 14, MIM# 613807 Tags
Red Red List (low evidence)	CCDC40	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Red Phenotypes Ciliary dyskinesia, primary, 15, MIM#613808 Tags
Red Red List (low evidence)	CCDC50	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category C gene Expert Review Red Phenotypes Deafness, autosomal dominant 44 , MIM# 607453 Tags
Red Red List (low evidence)	CCDC78	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category C gene Expert Review Red Phenotypes Congenital myopathy with prominent internal nuclei and atypical cores Tags
Red Red List (low evidence)	CCDC88C	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category C gene Expert Review Red Phenotypes Hydrocephalus Tags
Red Red List (low evidence)	CD164	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Red Phenotypes Deafness, autosomal dominant 66 MIM#616969 Tags
Red Red List (low evidence)	CD2AP	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category C gene Expert Review Red Phenotypes Glomerulosclerosis, focal segmental, 3 Tags
Red Red List (low evidence)	CD36	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category C gene Expert Review Red Phenotypes Platelet glycoprotein IV deficiency Tags
Red Red List (low evidence)	CD46	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category C gene Expert Review Red Phenotypes Haemolytic uraemic syndrome Tags
Red Red List (low evidence)	CD81	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Expert Review Red Phenotypes Immunodeficiency, common variable, 6, MIM# 613496 Tags immunological treatable
Red Red List (low evidence)	CD96	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category C gene Expert Review Red Phenotypes C syndrome Tags
Red Red List (low evidence)	CDAN1	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Red Phenotypes Dyserythropoietic anaemia, congenital, type Ia, MIM#224120 Tags haematological treatable
Red Red List (low evidence)	CDH1	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category B gene BabySeq Category C gene Expert Review Red Phenotypes Orofacial clefts Gastric cancer Tags
Red Red List (low evidence)	CDK5RAP2	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category C gene Expert Review Red Phenotypes Microcephaly 3, primary, autosomal recessive, MIM# 604804 MONDO:0011488 Tags
Red Red List (low evidence)	CDKL5	1 review 1 red	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources BabySeq Category A gene Expert Review Red Phenotypes Epileptic encephalopathy, early infantile, 2, MIM 300672 Tags
Red Red List (low evidence)	CDKN2A	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category B gene Expert Review Red Phenotypes {Melanoma, cutaneous malignant, 2}, MIM# 155601 Tags
Red Red List (low evidence)	CDON	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category C gene Expert Review Red Phenotypes Holoprosencephaly Tags
Red Red List (low evidence)	CDSN	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Red Phenotypes Peeling skin syndrome 1, MIM#270300 Tags
Red Red List (low evidence)	CDT1	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category C gene Expert Review Red Phenotypes Meier-Gorlin syndrome 4, MIM# 613804 MONDO:0013431 Tags
Red Red List (low evidence)	CEACAM16	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category C gene Expert Review Red Phenotypes Hearing loss, autosomal dominant Tags
Red Red List (low evidence)	CENPJ	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category C gene Expert Review Red Phenotypes Primary microcephaly Tags
Red Red List (low evidence)	CEP152	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Red Phenotypes Microcephaly 9, primary, autosomal recessive, MIM# 614852 Seckel syndrome 5, MIM# 613823 Tags
Red Red List (low evidence)	CEP250	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Red Phenotypes Cone-rod dystrophy and hearing loss 2 MIM#618358 Tags
Red Red List (low evidence)	CEP290	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Red Phenotypes 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 Tags
Red Red List (low evidence)	CEP41	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category C gene Expert Review Red Phenotypes Joubert syndrome Tags
Red Red List (low evidence)	CEP78	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Red Phenotypes Cone-rod dystrophy and hearing loss MIM#617236 Tags
Red Red List (low evidence)	CEP83	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Expert Review Red Phenotypes Nephronophthisis 18, MIM# 615862 ID MONDO:0014374 Retinal dystrophy Tags
Red Red List (low evidence)	CFB	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category C gene BeginNGS Expert Review Red Phenotypes Haemolytic uraemic syndrome Haemolytic uremic syndrome, atypical, susceptibility to, 4}, MIM# 612924 Tags
Red Red List (low evidence)	CFC1	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category A gene Expert Review Red Phenotypes Heterotaxy, visceral, 2, autosomal MIM#605376 Tags
Red Red List (low evidence)	CFHR1	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category C gene Expert Review Red Phenotypes Haemolytic uraemic syndrome Tags
Red Red List (low evidence)	CFHR3	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category C gene Expert Review Red Phenotypes Haemolytic uraemic syndrome Tags
Red Red List (low evidence)	CFHR4	0 reviews	Unknown	Sources BabySeq Category C gene Expert Review Red Phenotypes Hemolytic-uremic syndrome, atypical, susceptibility to Tags
Red Red List (low evidence)	CFHR5	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category C gene Expert Review Red Phenotypes Haemolytic uraemic syndrome Tags
Red Red List (low evidence)	CFL2	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Red Phenotypes Nemaline myopathy 7, autosomal recessive, MIM# 610687 Tags
Red Red List (low evidence)	CHD2	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category A gene Expert Review Red Phenotypes Epileptic encephalopathy, childhood-onset (MIM # 615369) Tags
Red Red List (low evidence)	CHD7	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category A gene Expert Review Red Phenotypes CHARGE syndrome, MIM# 214800 Tags
Red Red List (low evidence)	CHEK2	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category C gene Expert Review Red Phenotypes Breast cancer, susceptibility to Tags
Red Red List (low evidence)	CHKB	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Red Phenotypes Muscular dystrophy, congenital, megaconial type, MIM# 602541 Tags
Red Red List (low evidence)	CHM	1 review 1 red	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources BabySeq Category A gene Expert Review Red Phenotypes Choroideraemia MIM#303100 Tags
Red Red List (low evidence)	CHRM2	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category C gene Expert Review Red Phenotypes Cardiomyopathy, dilated Tags
Red Red List (low evidence)	CHRNA2	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category C gene Expert Review Red Phenotypes Epilepsy Tags
Red Red List (low evidence)	CHRNG	2 reviews 2 red	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Red Phenotypes Escobar syndrome, MIM# 265000 Multiple pterygium syndrome, lethal type, MIM# 253290 Tags
Red Red List (low evidence)	CHST3	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category C gene Expert Review Red Phenotypes Larsen syndrome Tags
Red Red List (low evidence)	CHSY1	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category C gene Expert Review Red Phenotypes Temtamy preaxial brachydactyly syndrome Tags
Red Red List (low evidence)	CISD2	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category C gene Expert Review Red Phenotypes Wolfram syndrome Tags
Red Red List (low evidence)	CITED2	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category C gene Expert Review Red Phenotypes Congenital heart defects Tags
Red Red List (low evidence)	CLCN1	0 reviews	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources BabySeq Category C gene Expert Review Red Phenotypes Myotonia congenita, recessive, MIM# 255700 Myotonia congenita, dominant, MIM# 160800 Tags
Red Red List (low evidence)	CLCN5	1 review 1 red	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources BabySeq Category A gene Expert Review Red Phenotypes Dent disease, MIM#300009 Tags
Red Red List (low evidence)	CLDN1	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category C gene Expert Review Red Phenotypes Ichthyosis, leukocyte vacuoles, alopecia, and sclerosing cholangitis Tags
Red Red List (low evidence)	CLDN19	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Red Phenotypes Deafness, autosomal recessive 116 MIM#619093 Tags
Red Red List (low evidence)	CLDN9	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Red Phenotypes Deafness, autosomal recessive 116 MIM#619093 Tags
Red Red List (low evidence)	CLMP	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category C gene Expert Review Red Phenotypes Congenital short-bowel syndrome Tags
Red Red List (low evidence)	CLN8	3 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Red Phenotypes Ceroid lipofuscinosis, neuronal, 8, MIM# 600143 Ceroid lipofuscinosis, neuronal, 8, Northern epilepsy variant, MIM# 610003 Tags
Red Red List (low evidence)	CLRN1	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Red Phenotypes Usher syndrome, type 3A, MIM# 276902 Tags
Red Red List (low evidence)	CNGB3	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Red Phenotypes Achromatopsia 3, MIM# 262300 Tags
Red Red List (low evidence)	CNTNAP2	0 reviews	Unknown	Sources BabySeq Category C gene Expert Review Red Phenotypes Autism spectrum disorder Tags
Red Red List (low evidence)	COG4	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category C gene Expert Review Red Phenotypes Congenital disorder of glycosylation, type IIj Tags
Red Red List (low evidence)	COG5	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category C gene Expert Review Red Phenotypes Congenital disorder of glycosylation, type IIi, MIM# 613612 Tags
Red Red List (low evidence)	COG7	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category C gene Expert Review Red Phenotypes Congenital disorder of glycosylation, type IIe Tags
Red Red List (low evidence)	COL17A1	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Red Phenotypes Epidermolysis bullosa, junctional 4, intermediate MIM#619787 Tags
Red Red List (low evidence)	COL4A6	2 reviews 1 green 1 red	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert list Expert Review Red Phenotypes Deafness, X-linked 6 MIM#300914 Tags
Red Red List (low evidence)	COL5A1	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category A gene Expert Review Red Phenotypes Ehlers-Danlos syndrome, classic type, 1, MIM# 130000 Fibromuscular dysplasia, multifocal, MIM# 619329 Tags
Red Red List (low evidence)	COL5A2	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category A gene Expert Review Red Phenotypes Ehlers-Danlos syndrome, classic type, 2 MIM#130010 Tags
Red Red List (low evidence)	COL6A1	1 review 1 red	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Red Phenotypes Bethlem myopathy MIM#158810 Ullrich congenital muscular dystrophy MIM#254090 Tags
Red Red List (low evidence)	COL6A2	1 review 1 red	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Red Phenotypes Bethlem myopathy 1 MIM#158810 Ullrich congenital muscular dystrophy 1 MIM#254090 Tags
Red Red List (low evidence)	COL6A3	1 review 1 red	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Red Phenotypes Bethlem myopathy 1 MIM#158810 Dystonia 27 MIM#616411 Ullrich congenital muscular dystrophy 1 MIM#254090 Tags
Red Red List (low evidence)	COL7A1	1 review 1 red	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Red Phenotypes 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 Tags
Red Red List (low evidence)	COQ8B	2 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources BeginNGS Expert Review Red Phenotypes Nephrotic syndrome, type 9, MIM# 615573 Tags for review
Red Red List (low evidence)	COQ9	2 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources BeginNGS Expert Review Red Phenotypes Coenzyme Q10 deficiency, primary, 5 , MIM#614654 Tags for review
Red Red List (low evidence)	COX4I2	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category C gene Expert Review Red Phenotypes Exocrine pancreatic insufficiency, dyserythropoietic anemia, and calvarial hyperostosis Tags
Red Red List (low evidence)	CPOX	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category C gene BeginNGS Expert Review Red Phenotypes Coproporphyria Coproporphyria , MIM#121300 Tags
Red Red List (low evidence)	CPZ	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category C gene Expert Review Red Phenotypes Autism Tags
Red Red List (low evidence)	CR2	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category C gene Expert Review Red Phenotypes Immunodeficiency, common variable, 7, MIM# 614699 Tags immunological treatable
Red Red List (low evidence)	CREBBP	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category A gene Expert Review Red Phenotypes Rubinstein-Taybi syndrome 1, MIM# 180849 Menke-Hennekam syndrome 1, MIM# 618332 Tags
Red Red List (low evidence)	CRELD1	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category C gene Expert Review Red Phenotypes Cardiac atrioventricular septal defect Tags
Red Red List (low evidence)	CRLF1	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Red Phenotypes Cold-induced sweating syndrome 1, MIM# 272430 Tags
Red Red List (low evidence)	CRYM	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Red Phenotypes Deafness, autosomal dominant 40 MIM#616357 Tags
Red Red List (low evidence)	CSF1R	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category C gene Expert Review Red Phenotypes Leukoencephalopathy, diffuse hereditary, with spheroids Tags
Red Red List (low evidence)	CSF2RA	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Red Phenotypes Surfactant metabolism dysfunction, pulmonary, 4, MIM# 300770 Tags
Red Red List (low evidence)	CSF2RB	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category C gene Expert Review Red Phenotypes Pulmonary alveolar proteinosis Tags
Red Red List (low evidence)	CSRP3	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category B gene BabySeq Category C gene Expert Review Red Phenotypes Cardiomyopathy, dilated, 1M Cardiomyopathy, familial hypertrophic, 12 Tags
Red Red List (low evidence)	CSTA	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category C gene Expert Review Red Phenotypes Exfoliative ichthyosis Tags
Red Red List (low evidence)	CSTB	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Red Phenotypes Epilepsy, progressive myoclonic 1A (Unverricht and Lundborg), MIM# 254800 Tags
Red Red List (low evidence)	CTC1	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Red Phenotypes Cerebroretinal microangiopathy with calcifications and cysts, MIM# 612199 Tags
Red Red List (low evidence)	CTDP1	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category C gene Expert Review Red Phenotypes Congenital cataracts - facial dysmorphism - neuropathy Tags
Red Red List (low evidence)	CTF1	0 reviews	Unknown	Sources BabySeq Category C gene Expert Review Red Phenotypes Cardiomyopathy, dilated Tags
Red Red List (low evidence)	CTR9	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Red Phenotypes Wilms tumour predisposition Tags cancer
Red Red List (low evidence)	CTSD	2 reviews 2 red	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Red Phenotypes Ceroid lipofuscinosis, neuronal, 10, MIM# 610127 Tags
Red Red List (low evidence)	CTSK	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Red Phenotypes Pycnodysostosis - MIM#265800 Tags
Red Red List (low evidence)	CUL7	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Red Phenotypes 3-M syndrome 1, MIM# 273750 Tags
Red Red List (low evidence)	CYCS	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category C gene Expert Review Red Phenotypes Thrombocytopenia 4 Tags
Red Red List (low evidence)	CYP4F22	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Red Phenotypes Ichthyosis, congenital, autosomal recessive 5, MIM# 604777 Tags
Red Red List (low evidence)	CYP7A1	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category C gene Expert Review Red Phenotypes Hypercholesterolemia due to cholesterol 7alpha-hydroxylase deficiency Tags
Red Red List (low evidence)	D2HGDH	2 reviews 2 red	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Red Phenotypes D-2-hydroxyglutaric aciduria MIM#600721 Tags
Red Red List (low evidence)	DAG1	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category C gene Expert Review Red Phenotypes Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 9 Tags
Red Red List (low evidence)	DAPK3	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category C gene Expert Review Red Phenotypes Congenital heart disease Tags
Red Red List (low evidence)	DBH	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category C gene Expert Review Red Phenotypes Dopamine beta-hydroxylase deficiency Tags
Red Red List (low evidence)	DCTN1	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category C gene Expert Review Red Phenotypes Amyotrophic lateral sclerosis Tags
Red Red List (low evidence)	DCX	1 review 1 red	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources BabySeq Category A gene BabySeq Category C gene Expert Review Red Phenotypes Lissencephaly, X-linked, MIM# 300067 Subcortical laminal heterotopia, X-linked 300067 Tags
Red Red List (low evidence)	DDB2	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Red Phenotypes Xeroderma pigmentosum, group E, DDB-negative subtype, MIM# 278740 Tags
Red Red List (low evidence)	DDHD1	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category C gene Expert Review Red Phenotypes Spastic paraplegia Tags
Red Red List (low evidence)	DDOST	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category C gene Expert Review Red Phenotypes Congenital disorder of glycosylation, type Ir Tags
Red Red List (low evidence)	DDR2	1 review 1 red	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources BabySeq Category C gene Expert Review Red Phenotypes Spondylometaepiphyseal dysplasia, short limb-hand type, MIM#271665 Warburg-Cinotti syndrome, MIM# 618175 Tags
Red Red List (low evidence)	DECR1	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category C gene Expert Review Red Phenotypes 2,4-Dienoyl-CoA reductase deficiency Tags
Red Red List (low evidence)	DFNA5	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category A gene Expert Review Red Phenotypes Deafness, autosomal dominant 5, MIM# 600994 Tags new gene name
Red Red List (low evidence)	DGKE	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category C gene Expert Review Red Phenotypes Haemolytic uraemic syndrome, atypical Tags
Red Red List (low evidence)	DGUOK	2 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Red Phenotypes Mitochondrial DNA depletion syndrome 3 (hepatocerebral type), MIM# 251880 Tags
Red Red List (low evidence)	DHCR24	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category C gene Expert Review Red Phenotypes Desmosterolosis Tags
Red Red List (low evidence)	DIABLO	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category C gene Expert Review Red Phenotypes Deafness, autosomal dominant Tags
Red Red List (low evidence)	DIAPH1	1 review 1 red	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources BabySeq Category C gene Expert Review Red Phenotypes Seizures, cortical blindness, microcephaly syndrome, MIM# 616632 Deafness, autosomal dominant 1, with or without thrombocytopenia, MIM# 124900 Tags
Red Red List (low evidence)	DKC1	1 review 1 red	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources BabySeq Category B gene BeginNGS Expert Review Red Phenotypes Dyskeratosis congenita, X-linked, MIM# 305000 Tags
Red Red List (low evidence)	DLC1	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category C gene Expert Review Red Phenotypes Congenital heart disease Tags
Red Red List (low evidence)	DLD	2 reviews 2 red	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene BeginNGS Expert Review Red Phenotypes Maple syrup urine disease, type III, MIM#246900 Tags
Red Red List (low evidence)	DLL3	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Red Phenotypes Spondylocostal dysostosis 1, autosomal recessive, MIM# 277300 Tags
Red Red List (low evidence)	DMPK	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category A gene Expert Review Red Phenotypes Myotonic dystrophy 1, MIM# 160900 Tags
Red Red List (low evidence)	DMXL2	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Red Phenotypes Developmental and epileptic encephalopathy 81, MIM#618663 Tags
Red Red List (low evidence)	DNAAF1	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Red Phenotypes Ciliary dyskinesia, primary, 13, MIM# 613193 Tags
Red Red List (low evidence)	DNAAF2	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category C gene Expert Review Red Phenotypes Primary ciliary dyskinesia Tags
Red Red List (low evidence)	DNAAF3	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category C gene Expert Review Red Phenotypes Primary ciliary dyskinesia Tags
Red Red List (low evidence)	DNAAF5	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category C gene Expert Review Red Phenotypes Primary ciliary dyskinesia Tags
Red Red List (low evidence)	DNAH11	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Red Phenotypes Ciliary dyskinesia, primary, 7, with or without situs inversus, MIM#611884 Tags
Red Red List (low evidence)	DNAH5	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Red Phenotypes Ciliary dyskinesia, primary, 3, with or without situs inversus, MIM# 608644 Tags
Red Red List (low evidence)	DNAI1	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Red Phenotypes Ciliary dyskinesia, primary, 1, with or without situs inversus, MIM# 244400 Tags
Red Red List (low evidence)	DNAI2	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category C gene Expert Review Red Phenotypes Primary ciliary dyskinesia Tags
Red Red List (low evidence)	DNAJB6	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category A gene Expert Review Red Phenotypes Muscular dystrophy, limb-girdle, autosomal dominant 1 MIM#603511 Tags
Red Red List (low evidence)	DNAJC19	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category C gene Expert Review Red Phenotypes 3-methylglutaconic aciduria, type V Tags
Red Red List (low evidence)	DNAJC5	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category C gene Expert Review Red Phenotypes Neuronal ceroid lipofuscinosis, adult-onset Tags
Red Red List (low evidence)	DNAL1	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category C gene Expert Review Red Phenotypes Primary ciliary dyskinesia Tags
Red Red List (low evidence)	DNM2	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category A gene Expert Review Red Phenotypes Charcot-Marie-Tooth disease, axonal type 2M, MIM# 606482 Charcot-Marie-Tooth disease, dominant intermediate B, MIM# 606482 Tags
Red Red List (low evidence)	DOLK	2 reviews 2 red	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category C gene Expert Review Red Phenotypes Congenital disorder of glycosylation, type Im, MIM# 610768 DK1-CDG, MONDO:0012556 Tags
Red Red List (low evidence)	DPM1	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category C gene Expert Review Red Phenotypes Congenital disorder of glycosylation, type Ie Tags
Red Red List (low evidence)	DPP6	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category C gene Expert Review Red Phenotypes Ventricular fibrillation, paroxysmal familial, 2 Tags
Red Red List (low evidence)	DPYD	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category C gene Expert Review Red Phenotypes Dihydropyrimidine dehydrogenase deficiency Tags
Red Red List (low evidence)	DTHD1	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category C gene Expert Review Red Phenotypes Leber congenital amaurosis with myopathy Tags
Red Red List (low evidence)	DTNA	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category C gene Expert Review Red Phenotypes Left ventricular noncompaction 1 Tags
Red Red List (low evidence)	DTNBP1	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category C gene Expert Review Red Phenotypes Hermansky-Pudlak syndrome 7 Tags
Red Red List (low evidence)	DYSF	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Red Phenotypes Miyoshi muscular dystrophy 1 254130 Muscular dystrophy, limb-girdle, autosomal recessive 2 253601 Myopathy, distal, with anterior tibial onset 606768 Tags
Red Red List (low evidence)	ECE1	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category C gene Expert Review Red Phenotypes Hirschsprung disease Tags
Red Red List (low evidence)	EDA	1 review 1 red	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources BabySeq Category A gene Expert Review Red Phenotypes Ectodermal dysplasia 1, hypohidrotic, X-linked MIM#305100 Tooth agenesis, selective, X-linked 1 MIM#313500 Tags
Red Red List (low evidence)	EDAR	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Red Phenotypes autosomal dominant hypohidrotic ectodermal dysplasia MONDO:0015884 autosomal recessive hypohidrotic ectodermal dysplasia MONDO:0016619 Tags
Red Red List (low evidence)	EDARADD	1 review 1 red	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Red Phenotypes autosomal dominant hypohidrotic ectodermal dysplasia MONDO:0015884 autosomal recessive hypohidrotic ectodermal dysplasia MONDO:0016619 Tags
Red Red List (low evidence)	EFEMP2	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category C gene Expert Review Red Phenotypes Cutis laxa, autosomal recessive, type IB Tags
Red Red List (low evidence)	EFHC1	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category A gene Expert Review Red Phenotypes {Myoclonic epilepsy, juvenile, susceptibility to, 1}, 254770 {Epilepsy, juvenile absence, susceptibility to, 1}, 607631 Tags
Red Red List (low evidence)	EFTUD2	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category A gene Expert Review Red Phenotypes Mandibulofacial dysostosis, Guion-Almeida type, MIM# 610536 Tags
Red Red List (low evidence)	EGR2	1 review 1 red	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Red Phenotypes Charcot-Marie-Tooth disease, type 1D 607678 Dejerine-Sottas disease 145900 Hypomyelinating neuropathy, congenital, 1, MIM# 605253 Tags
Red Red List (low evidence)	EIF2B1	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category C gene Expert Review Red Phenotypes Leukoencephalopathy with vanishing white matter Tags
Red Red List (low evidence)	ELN	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category A gene Expert Review Red Phenotypes cutis laxa, autosomal dominant 1 MONDO:0007411 supravalvular aortic stenosis MONDO:0008504 Tags
Red Red List (low evidence)	ELP1	1 review 1 red	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Red Phenotypes Dysautonomia, familial MIM#223900 paediatric medulloblastoma Tags
Red Red List (low evidence)	EMD	1 review 1 red	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources BabySeq Category A gene Expert Review Red Phenotypes Emery-Dreifuss muscular dystrophy 1, X-linked MIM#310300 Tags
Red Red List (low evidence)	EPB42	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category C gene Expert Review Red Phenotypes Spherocytosis Tags
Red Red List (low evidence)	EPCAM	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category C gene Expert Review Red Phenotypes Lynch syndrome Tags
Red Red List (low evidence)	EPHX1	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category C gene Expert Review Red Phenotypes Hypercholanemia, familial Tags
Red Red List (low evidence)	EPM2A	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Red Phenotypes Lafora disease MONDO:0009697 Tags
Red Red List (low evidence)	EPS8L2	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Red Phenotypes Deafness, MIM#617637 Tags
Red Red List (low evidence)	ERBB3	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category C gene Expert Review Red Phenotypes Lethal congenital contractural syndrome 2 Tags
Red Red List (low evidence)	ERCC1	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category C gene Expert Review Red Phenotypes Xeroderma pigmentosum Tags
Red Red List (low evidence)	ERCC2	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Red Phenotypes Xeroderma pigmentosum, group D, MIM# 278730 Tags
Red Red List (low evidence)	ERCC3	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category C gene Expert Review Red Phenotypes Xeroderma pigmentosum Tags
Red Red List (low evidence)	ERCC5	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Red Phenotypes Cerebrooculofacioskeletal syndrome 3, MIM# 616570 MONDO:0014696 Xeroderma pigmentosum, group G/Cockayne syndrome, MIM# 278780 MONDO:0010216 Tags
Red Red List (low evidence)	ERCC6	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Red Phenotypes 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 Tags
Red Red List (low evidence)	ERCC8	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Red Phenotypes Cockayne syndrome, type A, MIM# 216400 MONDO:0019569 Tags
Red Red List (low evidence)	ESCO2	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Red Phenotypes Juberg-Hayward syndrome, MIM# 216100 Roberts-SC phocomelia syndrome, MIM#268300 Tags
Red Red List (low evidence)	EVC	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Red Phenotypes Ellis-van Creveld syndrome, MIM# 225500 Tags
Red Red List (low evidence)	EVC2	1 review 1 red	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Red Phenotypes Ellis-van Creveld syndrome, MIM# 225500 Weyers acrofacial dysostosis, MIM# 193530 Tags
Red Red List (low evidence)	EXT1	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category A gene Expert Review Red Phenotypes Exostoses, multiple, type 1, MIM# 133700 Tags
Red Red List (low evidence)	EXT2	1 review 1 red	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Red Phenotypes Seizures, scoliosis, and macrocephaly syndrome, MIM#616682 Tags
Red Red List (low evidence)	EYA1	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category A gene Expert Review Red Phenotypes Anterior segment anomalies with or without cataract MIM#602588 Branchiootic syndrome 1 MIM#602588 Branchiootorenal syndrome 1, with or without cataracts MIM#113650 Tags
Red Red List (low evidence)	EYA4	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category A gene Expert Review Red Phenotypes Deafness, autosomal dominant 10, MIM# 601316 Tags
Red Red List (low evidence)	EZH2	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category A gene Expert Review Red Phenotypes Weaver syndrome MIM#277590 Tags
Red Red List (low evidence)	F11	1 review 1 red	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Red Phenotypes Factor XI deficiency, autosomal dominant 612416 Factor XI deficiency, autosomal recessive, MIM#612416 Tags
Red Red List (low evidence)	F2	1 review 1 red	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources BabySeq Category A gene BeginNGS Expert Review Red Phenotypes Dysprothrombinemia MIM#613679 Hypoprothrombinemia MIM#613679 Thrombophilia due to thrombin defect MIM#188050 Tags
Red Red List (low evidence)	F5	1 review 1 red	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources BabySeq Category C gene Expert Review Red Phenotypes 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 Tags
Red Red List (low evidence)	FAAH2	0 reviews	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources BabySeq Category C gene Expert Review Red Phenotypes Autism spectrum disorder Tags
Red Red List (low evidence)	FAM111B	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category C gene Expert Review Red Phenotypes Hereditary fibrosing poikiloderma with tendon contracture, myopathy, and pulmonary fibrosis Tags
Red Red List (low evidence)	FAM126A	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Red Phenotypes Hypomyelinating leukodystrophy 5 MONDO:0012514 Tags
Red Red List (low evidence)	FAM161A	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Red Phenotypes Retinitis pigmentosa 28, 606068 Tags
Red Red List (low evidence)	FAM20C	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Red Phenotypes Raine syndrome, MIM# 259775 Tags
Red Red List (low evidence)	FAM58A	1 review 1 red	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources BabySeq Category A gene Expert Review Red Phenotypes syndactyly-telecanthus-anogenital and renal malformations syndrome MONDO:0010408 Tags
Red Red List (low evidence)	FANCE	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category C gene BeginNGS Expert Review Red Phenotypes Fanconi anaemia Fanconi anaemia, MIM#600901 Tags
Red Red List (low evidence)	FANCF	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category C gene BeginNGS Expert Review Red Phenotypes Fanconi anaemia, MIM#603467 Fanconi anaemia Tags
Red Red List (low evidence)	FANCL	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category C gene BeginNGS Expert Review Red Phenotypes Fanconi anaemia Fanconi anaemia, MIM#614083 Tags
Red Red List (low evidence)	FANCM	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category C gene Expert Review Red Phenotypes Fanconi anaemia Tags
Red Red List (low evidence)	FAS	1 review 1 red	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources BeginNGS Expert Review Red Phenotypes Autoimmune lymphoproliferative syndrome, type IA, MIM# 601859 Tags
Red Red List (low evidence)	FBLN5	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category A gene BabySeq Category C gene Expert Review Red Phenotypes Age-related macular degeneration Cutis laxa Tags
Red Red List (low evidence)	FBN2	1 review 1 red	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Red Phenotypes Contractural arachnodactyly, congenital MIM#121050 Tags
Red Red List (low evidence)	FGD1	1 review 1 red	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources BabySeq Category A gene Expert Review Red Phenotypes Aarskog-Scott syndrome, MIM # 305400 Mental retardation, X-linked syndromic 16, MIM# 305400 Tags
Red Red List (low evidence)	FGD4	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Red Phenotypes Charcot Marie Tooth disease, type 4H, MIM#609311 Tags
Red Red List (low evidence)	FGFR1	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category A gene Expert Review Red Phenotypes 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 Tags
Red Red List (low evidence)	FGFR2	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category A gene Expert Review Red Phenotypes 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 Tags
Red Red List (low evidence)	FHL1	0 reviews	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources BabySeq Category A gene BabySeq Category C gene Expert Review Red Phenotypes Myofibrillar myopathy Emery-Dreifuss muscular dystrophy Tags
Red Red List (low evidence)	FHL2	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category C gene Expert Review Red Phenotypes Cardiomyopathy, hypertrophic Tags
Red Red List (low evidence)	FKBPL	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category C gene Expert Review Red Phenotypes Infertility Tags
Red Red List (low evidence)	FKRP	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Red Phenotypes Muscular dystrophy-dystroglycanopathy MONDO:0018276 Tags
Red Red List (low evidence)	FKTN	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Red Phenotypes Muscular dystrophy-dystroglycanopathy MONDO:0018276 Tags
Red Red List (low evidence)	FLCN	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category A gene Expert Review Red Phenotypes Birt-Hogg-Dube syndrome, MIM# 135150 Tags
Red Red List (low evidence)	FLG	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category C gene Expert Review Red Phenotypes Ichthyosis vulgaris Tags
Red Red List (low evidence)	FLNA	1 review 1 red	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources BabySeq Category A gene Expert Review Red Phenotypes 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 Tags
Red Red List (low evidence)	FLNC	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category C gene Expert Review Red Phenotypes Myofibrillar myopathy Tags
Red Red List (low evidence)	FMO3	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category C gene Expert Review Red Phenotypes Trimethylaminuria Tags
Red Red List (low evidence)	FOXC1	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category A gene Expert Review Red Phenotypes Axenfeld-Rieger syndrome, type 3, MIM# 602482 Tags
Red Red List (low evidence)	FOXC2	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category A gene Expert Review Red Phenotypes Lymphoedema-distichiasis syndrome, MIM# 153400 Tags
Red Red List (low evidence)	FOXF1	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category A gene Expert Review Red Phenotypes Alveolar capillary dysplasia with misalignment of pulmonary veins, MIM# 265380 Tags
Red Red List (low evidence)	FOXF2	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category C gene Expert Review Red Phenotypes Disorders of sex development with cleft palate Tags
Red Red List (low evidence)	FOXH1	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category C gene Expert Review Red Phenotypes Congenital heart defects Tags
Red Red List (low evidence)	FOXI1	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Red Phenotypes autosomal recessive distal renal tubular acidosis MONDO:0018440 Tags
Red Red List (low evidence)	FRAS1	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Red Phenotypes Fraser syndrome 1, MIM#219000 Tags
Red Red List (low evidence)	FREM1	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category C gene Expert Review Red Phenotypes Manitoba oculotrichoanal syndrome Tags
Red Red List (low evidence)	FREM2	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category C gene Expert Review Red Phenotypes Fraser syndrome Tags
Red Red List (low evidence)	FSCN2	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category C gene Expert Review Red Phenotypes Retinitis pigmentosa Tags
Red Red List (low evidence)	FTCD	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category C gene Expert Review Red Phenotypes Glutamate formiminotransferase deficiency Tags
Red Red List (low evidence)	FTL	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category A gene Expert Review Red Phenotypes Neurodegeneration with brain iron accumulation 3, MIM# 606159 Tags
Red Red List (low evidence)	FXN	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Red Phenotypes Friedreich ataxia MONDO:0100339 Tags
Red Red List (low evidence)	GABRA1	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category C gene Expert Review Red Phenotypes Epilepsy, idiopathic generalised Tags
Red Red List (low evidence)	GABRG2	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category C gene Expert Review Red Phenotypes Epileptic encephalopathy, early infantile, 74 MIM# 618396 Epilepsy, generalized, with febrile seizures plus, type 3 MIM# 607681 Febrile seizures, familial, 8 MIM# 607681 Tags
Red Red List (low evidence)	GAN	2 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Red Phenotypes Giant axonal neuropathy-1, MIM#256850 Tags
Red Red List (low evidence)	GATA1	0 reviews	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources BabySeq Category A gene BabySeq Category C gene BeginNGS Expert Review Red Phenotypes 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 Tags
Red Red List (low evidence)	GATA5	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category C gene Expert Review Red Phenotypes Familial atrial fibrillation Tags
Red Red List (low evidence)	GATA6	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category C gene Expert Review Red Phenotypes Atrial fibrillation Tags
Red Red List (low evidence)	GATAD1	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category C gene Expert Review Red Phenotypes Cardiomyopathy, dilated, 2B Tags
Red Red List (low evidence)	GBE1	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene BabySeq Category C gene Expert Review Red Phenotypes Polyglucosan body disease, adult form Glycogen storage disease IV Tags
Red Red List (low evidence)	GCLC	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category C gene Expert Review Red Phenotypes Hemolytic anemia due to gamma-glutamylcysteine synthetase deficiency Tags
Red Red List (low evidence)	GCSH	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category C gene Expert Review Red Phenotypes Glycine encephalopathy Tags
Red Red List (low evidence)	GDAP1	1 review 1 red	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Red Phenotypes 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 Tags
Red Red List (low evidence)	GDF1	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category C gene Expert Review Red Phenotypes Congenital heart defects Tags
Red Red List (low evidence)	GDNF	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category C gene Expert Review Red Phenotypes Hirschsprung disease Central hypoventilation syndrome Tags
Red Red List (low evidence)	GFER	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category C gene Expert Review Red Phenotypes Myopathy, mitochondrial progressive, with congenital cataract, hearing loss, and developmental delay Tags
Red Red List (low evidence)	GFM1	2 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Red Phenotypes Combined oxidative phosphorylation deficiency 1, MIM#609060 Tags review
Red Red List (low evidence)	GFPT1	2 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene BeginNGS Expert Review Red Phenotypes Congenital myasthenic syndrome, limb-girdle, MIM#610542 Tags
Red Red List (low evidence)	GJA1	1 review 1 red	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Red Phenotypes Oculodentodigital dysplasia, autosomal recessive, MIM# 257850 Oculodentodigital dysplasia, MIM# 164200 Tags
Red Red List (low evidence)	GJB1	1 review 1 red	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources BabySeq Category A gene Expert Review Red Phenotypes Charcot-Marie-Tooth neuropathy, X-linked dominant, 1, MIM# 302800 Tags
Red Red List (low evidence)	GJC2	1 review 1 red	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Red Phenotypes Spastic paraplegia 44, autosomal recessive MIM#613206 Leukodystrophy, hypomyelinating, 2 MIM#608804 Lymphatic malformation 3 MIM#613480 Tags
Red Red List (low evidence)	GLB1	2 reviews 2 red	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Red Phenotypes GM1-gangliosidosis, type I MIM#230500 GM1-gangliosidosis, type II MIM# 230600 GM1-gangliosidosis, type III MIM#230650 Mucopolysaccharidosis type IVB (Morquio) MIM#253010 Tags
Red Red List (low evidence)	GLE1	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category C gene Expert Review Red Phenotypes Lethal arthrogryposis with anterior horn cell disease Tags
Red Red List (low evidence)	GLI2	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category C gene Expert Review Red Phenotypes Holoprosencephaly-9 Tags
Red Red List (low evidence)	GLI3	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category A gene Expert Review Red Phenotypes Polydactyly, postaxial, types A1 and B, MIM#174200 Greig cephalopolysyndactyly syndrome MIM#175700 Polydactyly, preaxial, type IV MIM#174700 Pallister-Hall syndrome MIM#146510 Tags
Red Red List (low evidence)	GLRB	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category C gene BeginNGS Expert Review Red Phenotypes Hyperekplexia 2, autosomal recessive Hyperekplexia 2, MIM# 614619 Tags
Red Red List (low evidence)	GLUL	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category C gene Expert Review Red Phenotypes Congenital brain dysgenesis due to glutamine synthetase deficiency Tags
Red Red List (low evidence)	GMPPA	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category C gene Expert Review Red Phenotypes Congenital disorder of glycosylation Tags
Red Red List (low evidence)	GNPTAB	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Red Phenotypes Mucolipidosis II alpha/beta, MIM# 252500, MONDO:0009650 Mucolipidosis III alpha/beta, MIM# 252600, MONDO:0018931 Tags
Red Red List (low evidence)	GNPTG	2 reviews 2 red	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Red Phenotypes Mucolipidosis III gamma, MIM# 252605 Tags
Red Red List (low evidence)	GNS	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Red Phenotypes Mucopolysaccharidosis type IIID, MIM# 252940 Tags
Red Red List (low evidence)	GPC3	1 review 1 red	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources BabySeq Category A gene Expert Review Red Phenotypes Simpson-Golabi-Behmel syndrome, type 1, MIM# 312870 Tags
Red Red List (low evidence)	GPC4	0 reviews	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources BabySeq Category C gene Expert Review Red Phenotypes Simpson-Golabi-Behmel syndrome Tags
Red Red List (low evidence)	GPC6	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category C gene Expert Review Red Phenotypes Omodysplasia Tags
Red Red List (low evidence)	GPHN	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category C gene Expert Review Red Phenotypes Hyperekplexia Tags
Red Red List (low evidence)	GPR143	1 review 1 red	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources BabySeq Category A gene Expert Review Red Phenotypes Ocular albinism, type I, Nettleship-Falls type, MIM# 300500 Tags
Red Red List (low evidence)	GPR161	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Red Phenotypes Medulloblastoma predisposition syndrome MIM#155255 Tags cancer
Red Red List (low evidence)	GPSM2	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Red Phenotypes Chudley-McCullough syndrome MIM#604213 Tags
Red Red List (low evidence)	GPX1	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category C gene Expert Review Red Phenotypes Hemolytic anemia due to glutathione peroxidase deficiency Tags
Red Red List (low evidence)	GRHL2	1 review 1 red	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources BabySeq Category C gene Expert Review Red Phenotypes Ectodermal dysplasia/short stature syndrome MIM#616029 Corneal dystrophy, posterior polymorphous, 4, MIM# 618031 Deafness, autosomal dominant 28, MIM# 608641 Tags
Red Red List (low evidence)	GRIN2A	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category C gene Expert Review Red Phenotypes Epilepsy with neurodevelopmental defects Tags
Red Red List (low evidence)	GSS	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Red Phenotypes Glutathione synthetase deficiency, MIM# 266130 Haemolytic anemia due to glutathione synthetase deficiency 231900 Tags
Red Red List (low evidence)	GTF2H5	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category C gene Expert Review Red Phenotypes Trichothiodystrophy Tags
Red Red List (low evidence)	GUCY2C	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category C gene Expert Review Red Phenotypes Meconium ileus Tags
Red Red List (low evidence)	GYG1	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category C gene Expert Review Red Phenotypes Glycogen storage disease XV Tags
Red Red List (low evidence)	H19	0 reviews	Unknown	Sources BabySeq Category A gene Expert Review Red Phenotypes Beckwith-Wiedemann Syndrome Tags non-coding gene
Red Red List (low evidence)	HAMP	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category C gene Expert Review Red Phenotypes Haemochromatosis Tags
Red Red List (low evidence)	HARS	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category C gene Expert Review Red Phenotypes Usher syndrome type 3B Tags
Red Red List (low evidence)	HARS2	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category C gene Expert Review Red Phenotypes Perrault syndrome 2, MIM# 614926 Tags
Red Red List (low evidence)	HAS2	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category C gene Expert Review Red Phenotypes Congenital heart disease Tags
Red Red List (low evidence)	HCCS	0 reviews	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources BabySeq Category C gene Expert Review Red Phenotypes Microphthalmia Tags
Red Red List (low evidence)	HCFC1	1 review 1 red	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources BeginNGS Expert Review Red Phenotypes Methylmalonic aciduria and homocysteinemia, cblX type, MIM# 309541 Tags
Red Red List (low evidence)	HCN4	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category C gene Expert Review Red Phenotypes Brugada syndrome Tags
Red Red List (low evidence)	HDAC8	1 review 1 red	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources BabySeq Category A gene Expert Review Red Phenotypes Cornelia de Lange syndrome 5, MIM# 300882 Tags
Red Red List (low evidence)	HERC2	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category C gene Expert Review Red Phenotypes Autism spectrum disorder Tags
Red Red List (low evidence)	HEXA	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Red Phenotypes GM2-gangliosidosis, several forms 272800 Tay-Sachs disease 272800 Tags
Red Red List (low evidence)	HEXB	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Red Phenotypes Sandhoff disease, infantile, juvenile, and adult forms, MIM# 268800 Tags
Red Red List (low evidence)	HFE	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category C gene Expert Review Red Phenotypes Hemochromatosis Tags
Red Red List (low evidence)	HFE2	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category C gene Expert Review Red Phenotypes Haemochromatosis Tags
Red Red List (low evidence)	HGSNAT	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Red Phenotypes Mucopolysaccharidosis type IIIC (Sanfilippo C), MIM# 252930 Tags
Red Red List (low evidence)	HINT1	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Red Phenotypes Neuromyotonia and axonal neuropathy, autosomal recessive, MIM# 137200 Gamstorp-Wohlfart syndrome, MONDO:0007646 Tags
Red Red List (low evidence)	HMBS	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category C gene Expert Review Red Phenotypes Porphyria, acute intermittent Tags
Red Red List (low evidence)	HNF1B	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category C gene Expert Review Red Phenotypes Renal cysts and diabetes syndrome Tags
Red Red List (low evidence)	HOMER2	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Red Phenotypes Deafness, autosomal dominant 68, MIM# 616707 Tags
Red Red List (low evidence)	HOMEZ	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category C gene Expert Review Red Phenotypes Congenital heart disease Tags
Red Red List (low evidence)	HOXA1	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category C gene Expert Review Red Phenotypes Athabaskan brainstem dysgenesis syndrome Tags
Red Red List (low evidence)	HPD	2 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category C gene BeginNGS Expert Review Red Phenotypes Tyrosinemia, type III Hawkinsinuria , MIM#140350 Tyrosinaemia, type III 276710 Tags
Red Red List (low evidence)	HPRT1	2 reviews 1 red	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources BabySeq Category A gene Expert Review Red Phenotypes Lesch-Nyhan syndrome, MIM# 300322 Tags for review
Red Red List (low evidence)	HPS1	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Red Phenotypes Hermansky-Pudlak syndrome 1, MIM# 203300 Tags
Red Red List (low evidence)	HPS3	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Red Phenotypes Hermansky-Pudlak syndrome 3, MIM# 614072 Tags
Red Red List (low evidence)	HPS4	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Red Phenotypes Hermansky-Pudlak syndrome 4, MIM# 614073 Tags
Red Red List (low evidence)	HPS5	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Red Phenotypes Hermansky-Pudlak syndrome 5 (MIM#614074) Tags
Red Red List (low evidence)	HPS6	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category C gene Expert Review Red Phenotypes Hermansky-Pudlak syndrome 6 Tags
Red Red List (low evidence)	HRAS	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category A gene Expert Review Red Phenotypes Costello syndrome, MIM# 218040 Tags
Red Red List (low evidence)	HSD17B10	2 reviews 2 red	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources BabySeq Category A gene Expert Review Red Phenotypes HSD10 mitochondrial disease, MIM# 300438 Tags
Red Red List (low evidence)	HSD17B3	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Red Phenotypes Pseudohermaphroditism, male, with gynecomastia MIM#264300 Tags
Red Red List (low evidence)	HSD17B4	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Red Phenotypes D-bifunctional protein deficiency, AR (MIM#261515) Perrault syndrome 1, AR (MIM#233400) Tags
Red Red List (low evidence)	HSPB8	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category A gene Expert Review Red Phenotypes Neuropathy, distal hereditary motor type IIA, 158590 Charcot-Marie-Tooth disease, axonal, type 2L, MIM# 608673 Tags
Red Red List (low evidence)	HSPG2	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Red Phenotypes Schwartz-Jampel syndrome, type 1, MIM# 255800 MONDO:0009717 Dyssegmental dysplasia, Silverman-Handmaker type, MIM# 224410 MONDO:0009140 Tags
Red Red List (low evidence)	HTRA1	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Red Phenotypes CARASIL syndrome, MIM# 600142 Tags
Red Red List (low evidence)	HYDIN	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category C gene Expert Review Red Phenotypes Primary ciliary dyskinesia Tags
Red Red List (low evidence)	HYLS1	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category C gene Expert Review Red Phenotypes Hydrolethalus syndrome Tags
Red Red List (low evidence)	IFT122	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category C gene Expert Review Red Phenotypes Cranioectodermal dysplasia Tags
Red Red List (low evidence)	IFT43	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category C gene Expert Review Red Phenotypes Cranioectodermal dysplasia Tags
Red Red List (low evidence)	IFT80	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category C gene Expert Review Red Phenotypes Asphyxiating thoracic dystrophy 2 Tags
Red Red List (low evidence)	IGBP1	0 reviews	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources BabySeq Category C gene Expert Review Red Phenotypes Agenesis of the corpus callosum - intellectual deficit - coloboma - micrognathia Tags
Red Red List (low evidence)	IGHMBP2	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Red Phenotypes Neuronopathy, distal hereditary motor, type VI, MIM# 604320 Charcot-Marie-Tooth disease, axonal, type 2S, MIM# 616155 Tags
Red Red List (low evidence)	ILK	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category C gene Expert Review Red Phenotypes Cardiomyopathy, dilated Tags
Red Red List (low evidence)	INSR	1 review 1 red	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Red Phenotypes Hyperinsulinemic hypoglycemia, familial, 5, MIM# 609968 Leprechaunism, MIM# 246200 Rabson-Mendenhall syndrome, MIM# 262190 Tags
Red Red List (low evidence)	INVS	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Red Phenotypes Nephronophthisis 2, infantile, (MIM#602088) Tags
Red Red List (low evidence)	IQCB1	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Red Phenotypes Senior-Loken syndrome 5, MIM# 609254 Tags
Red Red List (low evidence)	IRF6	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category A gene BabySeq Category C gene Expert Review Red Phenotypes Popliteal pterygium syndrome 1MIM#119500 van der Woude syndrome MIM#119300 Tags
Red Red List (low evidence)	IRS1	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category C gene Expert Review Red Phenotypes Diabetes mellitus, noninsulin dependent Tags
Red Red List (low evidence)	ISCU	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category C gene Expert Review Red Phenotypes Myopathy with defiency of succinate dehydrogenase Tags
Red Red List (low evidence)	ISL1	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category C gene Expert Review Red Phenotypes Diabetes, type 2 Tags
Red Red List (low evidence)	ISPD	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Red Phenotypes Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7, MIM# 614643 Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 7, MIM# 616052 Tags
Red Red List (low evidence)	ITGA3	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category C gene Expert Review Red Phenotypes Interstitial lung disease, nephrotic syndrome, and epidermolysis bullosa, congenital Tags
Red Red List (low evidence)	ITGA6	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category C gene Expert Review Red Phenotypes Epidermolysis bullosa, junctional, with pyloric stenosis Tags
Red Red List (low evidence)	ITGA7	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category C gene Expert Review Red Phenotypes Congenital muscular dystrophy with integrin deficiency Tags
Red Red List (low evidence)	ITGB4	1 review 1 red	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Red Phenotypes Epidermolysis bullosa of hands and feet, MIM# 131800 Epidermolysis bullosa, junctional, non-Herlitz type, MIM# 226650 Epidermolysis bullosa, junctional, with pyloric atresia, MIM# 226730 Tags
Red Red List (low evidence)	JAG1	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category A gene Expert Review Red Phenotypes Alagille syndrome, MIM# 1 118450 Tags
Red Red List (low evidence)	JPH2	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category C gene Expert Review Red Phenotypes Cardiomyopathy, hypertrophic Tags
Red Red List (low evidence)	KANSL1	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category A gene Expert Review Red Phenotypes Koolen-De Vries syndrome, MIM# 610443 Tags
Red Red List (low evidence)	KARS	2 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category C gene Expert Review Red Phenotypes Leukoencephalopathy with or without deafness (LEPID), MIM#619147 Deafness, autosomal recessive 89, MIM# 613916 Congenital deafness and adult-onset progressive leukoencephalopathy (DEAPLE), MIM#619196 Tags
Red Red List (low evidence)	KAT6B	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category A gene Expert Review Red Phenotypes SBBYSS syndrome MIM #603736 Genitopatellar syndrome MIM #606170 Tags
Red Red List (low evidence)	KBTBD13	1 review 1 red	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Red Phenotypes Nemaline myopathy 6, autosomal dominant, MIM# 609273 Hereditary motor neuropathy late-onset limb girdle muscular dystrophy Tags
Red Red List (low evidence)	KCNA1	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category A gene Expert Review Red Phenotypes Episodic ataxia/myokymia syndrome, MIM# 160120 Tags
Red Red List (low evidence)	KCNA5	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category B gene Expert Review Red Phenotypes Atrial fibrillation, familial, 7, MIM# 612240 Tags
Red Red List (low evidence)	KCND3	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category C gene Expert Review Red Phenotypes Brugada syndrome Tags
Red Red List (low evidence)	KCNE3	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category C gene Expert Review Red Phenotypes Brugada syndrome Tags
Red Red List (low evidence)	KCNE5	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category C gene Expert Review Red Phenotypes Atrial fibrillation Tags
Red Red List (low evidence)	KCNJ18	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category C gene Expert Review Red Phenotypes Hypokalaemic periodic paralysis Tags
Red Red List (low evidence)	KCNJ5	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category C gene Expert Review Red Phenotypes Long QT syndrome Tags
Red Red List (low evidence)	KCNJ8	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category C gene Expert Review Red Phenotypes Sudden infant death syndrom Tags
Red Red List (low evidence)	KCNQ1OT1	0 reviews	Unknown	Sources BabySeq Category C gene Expert Review Red Phenotypes Beckwith-Wiedemann syndrome Tags
Red Red List (low evidence)	KCNQ2	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category C gene BeginNGS Expert Review Red Phenotypes Seizures, benign neonatal, 1, MIM# 121200 Epilepsy, benign neonatal Developmental and epileptic encephalopathy 7, MIM# 613720 Tags
Red Red List (low evidence)	KCNQ3	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category C gene Expert Review Red Phenotypes Epilepsy, benign neonatal Tags
Red Red List (low evidence)	KCNQ4	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category A gene Expert Review Red Phenotypes Deafness, autosomal dominant 2A, MIM# 600101 Tags
Red Red List (low evidence)	KCNT1	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BeginNGS Expert Review Red Phenotypes Developmental and epileptic encephalopathy 14, MIM# 614959 Tags
Red Red List (low evidence)	KCTD7	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Red Phenotypes Epilepsy, progressive myoclonic 3, with or without intracellular inclusions (MIM#611726) Tags
Red Red List (low evidence)	KDM5B	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category C gene Expert Review Red Phenotypes Congenital heart disease Tags
Red Red List (low evidence)	KDM6A	1 review 1 red	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources BabySeq Category A gene Expert Review Red Phenotypes Kabuki syndrome 2, MIM#300867 Tags
Red Red List (low evidence)	KIF1B	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category C gene Expert Review Red Phenotypes Charcot-Marie-Tooth disease Tags
Red Red List (low evidence)	KIF1BP	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category C gene Expert Review Red Phenotypes Goldberg-Shprintzen megacolon syndrome Tags
Red Red List (low evidence)	KIF21A	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category A gene Expert Review Red Phenotypes Fibrosis of extraocular muscles, congenital, 1/3B, MIM# 135700 Tags
Red Red List (low evidence)	KIF22	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category C gene Expert Review Red Phenotypes Spondyloepimetaphyseal dysplasia with joint laxity, type 2 Tags
Red Red List (low evidence)	KIT	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category A gene Expert Review Red Phenotypes Piebaldism, MIM# 172800 Gastrointestinal stromal tumor, familial, MIM# 606764 Tags
Red Red List (low evidence)	KLF1	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category C gene Expert Review Red Phenotypes Dyserythropoietic anaemia, congenital, type IV, MIM# 613673 Tags
Red Red List (low evidence)	KLHL40	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Red Phenotypes Nemaline myopathy 8, autosomal recessive, MIM# 615348 Tags
Red Red List (low evidence)	KLHL41	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Red Phenotypes Nemaline myopathy 9, MIM# 615731 Tags
Red Red List (low evidence)	KMT2D	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category A gene Expert Review Red Phenotypes Kabuki syndrome 1, MIM# 147920 Tags
Red Red List (low evidence)	KPTN	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category C gene Expert Review Red Phenotypes Macrocephaly, neurodevelopmental delay, and seizures Tags
Red Red List (low evidence)	KRAS	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category A gene Expert Review Red Phenotypes Cardiofaciocutaneous syndrome 2, MIM# 615278 Noonan syndrome 3, MIM# 609942 Tags
Red Red List (low evidence)	KRT14	1 review 1 red	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Red Phenotypes 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 Tags
Red Red List (low evidence)	KRT16	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category A gene Expert Review Red Phenotypes Palmoplantar keratoderma, nonepidermolytic, focal (MIM#613000) Pachyonychia congenita 1 (MIM#167200) Tags
Red Red List (low evidence)	KRT17	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category A gene Expert Review Red Phenotypes Pachyonychia congenita 2, MIM#167210 Steatocystoma multiplex, MIM# 184500 Tags
Red Red List (low evidence)	KRT18	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category C gene Expert Review Red Phenotypes Cirrhosis, cryptogenic Tags
Red Red List (low evidence)	KRT5	1 review 1 red	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Red Phenotypes 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 Tags
Red Red List (low evidence)	KRT6A	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category A gene Expert Review Red Phenotypes Pachyonychia congenita 3 (MIM#615726) Tags
Red Red List (low evidence)	KRT6B	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category C gene Expert Review Red Phenotypes Pachyonychia congenita Tags
Red Red List (low evidence)	KRT8	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category C gene Expert Review Red Phenotypes Cirrhosis, cryptogenic Tags
Red Red List (low evidence)	L1CAM	2 reviews 1 green 1 red	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources BabySeq Category A gene Expert Review Red Phenotypes Hydrocephalus due to aqueductal stenosis, MIM# 307000 Tags
Red Red List (low evidence)	LAMA3	2 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Red Phenotypes Epidermolysis bullosa, junctional 2B, severe, MIM# 619784 Tags
Red Red List (low evidence)	LAMA4	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category C gene Expert Review Red Phenotypes Cardiomyopathy, dilated Tags
Red Red List (low evidence)	LAMB2	2 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Red Phenotypes Nephrotic syndrome, type 5, with or without ocular abnormalities, MIM# 614199 Pierson syndrome, MIM# 609049 Tags
Red Red List (low evidence)	LAMB3	2 reviews 2 red	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Red Phenotypes Amelogenesis imperfecta, type IA, MIM# 104530 Epidermolysis bullosa, junctional, Herlitz type, MIM# 226700 Epidermolysis bullosa, junctional, non-Herlitz type, MIM# 226650 Tags
Red Red List (low evidence)	LAMC2	2 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Red Phenotypes Epidermolysis bullosa, junctional 3B, severe, MIM# 619786 Tags
Red Red List (low evidence)	LAMTOR2	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources BeginNGS Expert Review Red Phenotypes Immunodeficiency due to defect in MAPBP-interacting protein, MIM# 610798 Tags
Red Red List (low evidence)	LARGE1	2 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Red Phenotypes 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 Tags
Red Red List (low evidence)	LARS	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category C gene Expert Review Red Phenotypes Infantile liver failure syndrome Tags
Red Red List (low evidence)	LARS2	2 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category C gene Expert Review Red Phenotypes Hydrops, lactic acidosis, and sideroblastic anemia, MIM# 617021 Perrault syndrome 4, MIM# 615300 Tags
Red Red List (low evidence)	LBR	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category A gene BabySeq Category C gene Expert Review Red Phenotypes Pelger-Huet anomaly Reynolds syndrome Tags
Red Red List (low evidence)	LDB3	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category C gene Expert Review Red Phenotypes Myofibrillar myopathy Tags
Red Red List (low evidence)	LGI1	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category C gene Expert Review Red Phenotypes Epilepsy, familial temporal lobe, 1 Tags
Red Red List (low evidence)	LHB	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category C gene Expert Review Red Phenotypes Hypogonadism Tags
Red Red List (low evidence)	LIAS	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Expert Review Red Phenotypes Hyperglycinemia, lactic acidosis, and seizures MIM#614462 Tags
Red Red List (low evidence)	LIFR	2 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Red Phenotypes Stuve-Wiedemann syndrome/Schwartz-Jampel type 2 syndrome, MIM# 601559 Tags
Red Red List (low evidence)	LITAF	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category A gene Expert Review Red Phenotypes Charcot-Marie-Tooth disease, type 1C, MIM# 601098 Tags
Red Red List (low evidence)	LMNB2	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category C gene Expert Review Red Phenotypes Lipodystrophy, partial Tags
Red Red List (low evidence)	LMOD3	2 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Red Phenotypes Nemaline myopathy 10, MIM# 616165 Tags
Red Red List (low evidence)	LMX1A	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Red Phenotypes Deafness, autosomal dominant 7 MIM#601412 Tags
Red Red List (low evidence)	LMX1B	2 reviews 1 green 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category A gene Expert Review Red Phenotypes Nail-patella syndrome, MIM# 161200, MONDO:0008061 Tags
Red Red List (low evidence)	LPIN2	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category C gene Expert Review Red Phenotypes Majeed syndrome Tags
Red Red List (low evidence)	LPP	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category C gene Expert Review Red Phenotypes Tetralogy of Fallot Tags
Red Red List (low evidence)	LRP2	2 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Red Phenotypes Donnai-Barrow syndrome, MIM#222448 Tags
Red Red List (low evidence)	LRP4	2 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene BeginNGS Expert Review Red Phenotypes Myasthenic syndrome, congenital, 17 , MIM#616304 Tags
Red Red List (low evidence)	LRPPRC	2 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Red Phenotypes Mitochondrial complex IV deficiency, nuclear type 5, (French-Canadian) MIM#220111 Tags
Red Red List (low evidence)	LRRC6	2 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Red Phenotypes Ciliary dyskinesia, primary, 19, MIM# 614935 Tags
Red Red List (low evidence)	LRRK2	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category C gene Expert Review Red Phenotypes Parkinson disease Tags
Red Red List (low evidence)	LRSAM1	1 review 1 red	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Red Phenotypes Charcot-Marie-Tooth disease, axonal, type 2P, MIM# 614436 Tags
Red Red List (low evidence)	LTBP4	2 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Red Phenotypes Cutis laxa, autosomal recessive, type IC (MIM# 613177) Tags
Red Red List (low evidence)	LUM	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category C gene Expert Review Red Phenotypes Amyotrophic lateral sclerosis Tags
Red Red List (low evidence)	LYZ	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category C gene Expert Review Red Phenotypes Amyloidosis, systemic Tags
Red Red List (low evidence)	MAD2L2	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources BeginNGS Expert Review Red Phenotypes Fanconi anemia, complementation group V, MIM# 617243 Tags
Red Red List (low evidence)	MAGI2	2 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Red Phenotypes Nephrotic syndrome, type 15, MIM# 617609 Tags
Red Red List (low evidence)	MAP2K1	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category A gene Expert Review Red Phenotypes Cardiofaciocutaneous syndrome 3, MIM# 615279 Tags
Red Red List (low evidence)	MAP2K2	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category A gene Expert Review Red Phenotypes Cardiofaciocutaneous syndrome 4, MIM# 615280 Tags
Red Red List (low evidence)	MAPK10	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category C gene Expert Review Red Phenotypes Epileptic encephalopathy Tags
Red Red List (low evidence)	MAPT	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category C gene Expert Review Red Phenotypes Dementia, frontotemporal, with or without parkinsonism Tags
Red Red List (low evidence)	MAT1A	1 review 1 red	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources BabySeq Category C gene Expert Review Red Phenotypes Methionine adenosyltransferase deficiency MIM#250850 Tags
Red Red List (low evidence)	MATN4	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category C gene Expert Review Red Phenotypes Multiple anomalies Tags
Red Red List (low evidence)	MBTPS2	1 review 1 red	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources BabySeq Category A gene Expert Review Red Phenotypes IFAP syndrome with or without BRESHECK syndrome MIM#308205 Tags
Red Red List (low evidence)	MCCC1	2 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category B gene BeginNGS Expert Review Red Phenotypes 3-Methylcrotonyl-CoA carboxylase 1 deficiency MIM#210200 Tags
Red Red List (low evidence)	MCCC2	2 reviews 2 red	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category B gene BeginNGS Expert Review Red Phenotypes 3-Methylcrotonyl-CoA carboxylase 2 deficiency MIM#210210 Tags
Red Red List (low evidence)	MCOLN1	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Red Phenotypes Mucolipidosis IV, MIM# 252650 Tags
Red Red List (low evidence)	MCPH1	2 reviews 2 red	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Red Phenotypes Microcephaly 1, primary, autosomal recessive, MIM# 251200 Tags
Red Red List (low evidence)	MECP2	2 reviews 2 red	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources BabySeq Category A gene Expert Review Red Phenotypes MECP2-related disorders Rett syndrome, MIM# 312750 Mental retardation, X-linked, syndromic 13, MIM# 300055 Tags
Red Red List (low evidence)	MED12	2 reviews 2 red	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources BabySeq Category A gene Expert Review Red Phenotypes Ohdo syndrome, X-linked MIM#300895 Lujan-Fryns syndrome MIM#309520 Opitz-Kaveggia syndrome MIM#305450 Hardikar syndrome, MIM# 301068 Tags
Red Red List (low evidence)	MED13L	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category C gene Expert Review Red Phenotypes Transposition of great arteries Tags
Red Red List (low evidence)	MED20	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category C gene Expert Review Red Phenotypes Congenital heart disease Tags
Red Red List (low evidence)	MED25	2 reviews 2 red	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category C gene Expert Review Red Phenotypes Congenital cataract-microcephaly-naevus flammeus syndrome MONDO:0014643 Basel-Vanagait-Smirin-Yosef syndrome, MIM# 616449 Tags
Red Red List (low evidence)	MEGF10	2 reviews 2 red	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Red Phenotypes Myopathy, areflexia, respiratory distress, and dysphagia, early-onset, MIM# 614399 Tags
Red Red List (low evidence)	MESP2	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category C gene Expert Review Red Phenotypes Spondylocostal dysostosis, autosomal recessive 2 Tags
Red Red List (low evidence)	MFN2	2 reviews 2 red	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Red Phenotypes 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 Tags
Red Red List (low evidence)	MFSD8	2 reviews 2 red	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Red Phenotypes Ceroid lipofuscinosis, neuronal, 7, MIM# 610951 Tags
Red Red List (low evidence)	MGAT2	2 reviews 2 red	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category C gene Expert Review Red Phenotypes Congenital disorder of glycosylation, type IIa, MIM# 212066 MGAT2-CDG, MONDO:0008908 Tags
Red Red List (low evidence)	MGP	2 reviews 2 red	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Red Phenotypes Keutel syndrome, MIM #245150 Tags
Red Red List (low evidence)	MIB1	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category C gene Expert Review Red Phenotypes Left ventricular noncompaction Tags
Red Red List (low evidence)	MIR96	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category C gene Expert Review Red Phenotypes Hearing loss Tags
Red Red List (low evidence)	MKKS	2 reviews 2 red	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Red Phenotypes Bardet-Biedl syndrome 6 (MIM#605231) McKusick-Kaufman syndrome, MIM# 236700 Tags
Red Red List (low evidence)	MKS1	2 reviews 2 red	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Red Phenotypes Joubert syndrome 28, MIM# 617121 MONDO:0014928 Meckel syndrome 1, MIM# 249000 MONDO:0009571 Bardet-Biedl syndrome 13, MIM# 615990 MONDO:0014441 Tags
Red Red List (low evidence)	MLC1	2 reviews 2 red	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Red Phenotypes Megalencephalic leukoencephalopathy with subcortical cysts OMIM#604004 Tags
Red Red List (low evidence)	MLPH	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category C gene Expert Review Red Phenotypes Griscelli syndrome type 3 Tags
Red Red List (low evidence)	MOCS2	2 reviews 2 red	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Red Phenotypes Molybdenum cofactor deficiency B, MIM#252160 Tags
Red Red List (low evidence)	MOGS	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category C gene Expert Review Red Phenotypes Glucosidase 1 deficiency Tags
Red Red List (low evidence)	MPDU1	2 reviews 2 red	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category C gene Expert Review Red Phenotypes Congenital disorder of glycosylation, type If, MIM# 609180 MPDU1-CDG, MONDO:0012211 Tags
Red Red List (low evidence)	MPV17	2 reviews 2 red	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Red Phenotypes Mitochondrial DNA depletion syndrome 6 (hepatocerebral type), MIM# 256810 Tags
Red Red List (low evidence)	MPZ	2 reviews 2 red	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Red Phenotypes 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 Tags
Red Red List (low evidence)	MPZL2	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Red Phenotypes Deafness, autosomal recessive 111 MIM#618145 Tags
Red Red List (low evidence)	MRPS16	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category C gene Expert Review Red Phenotypes Mitochondrial respiratory chain disorder Tags
Red Red List (low evidence)	MRPS22	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category C gene Expert Review Red Phenotypes Mitochondrial respiratory chain disorder Tags
Red Red List (low evidence)	MSRB3	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category C gene Expert Review Red Phenotypes Deafness, autosomal recessive Tags
Red Red List (low evidence)	MSX2	2 reviews 2 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category A gene Expert Review Red Phenotypes Craniosynostosis 2 (MIM#604757) Parietal foramina 1 (MIM#168500) Parietal foramina with cleidocranial dysplasia (MIM#168550) Tags
Red Red List (low evidence)	MT-ND1	0 reviews	MITOCHONDRIAL	Sources BabySeq Category C gene Expert Review Red Phenotypes Leber hereditary optic neuropathy Tags
Red Red List (low evidence)	MT-ND4	0 reviews	MITOCHONDRIAL	Sources BabySeq Category C gene Expert Review Red Phenotypes Leber hereditary optic neuropathy Tags
Red Red List (low evidence)	MT-ND6	0 reviews	MITOCHONDRIAL	Sources BabySeq Category C gene Expert Review Red Phenotypes Leber hereditary optic neuropathy Tags
Red Red List (low evidence)	MTHFR	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category B gene Expert Review Red Phenotypes Homocystinuria due to MTHFR deficiency MIM#236250 Tags
Red Red List (low evidence)	MTHFS	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Red Phenotypes Neurodevelopmental disorder with microcephaly, epilepsy, and hypomyelination, 618367 Tags metabolic
Red Red List (low evidence)	MTM1	2 reviews 2 red	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources BabySeq Category A gene Expert Review Red Phenotypes Myopathy, centronuclear, X-linked, MIM# 310400 Tags
Red Red List (low evidence)	MTO1	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category C gene Expert Review Red Phenotypes Hypertrophic cardiomyopathy & lactic acidosis Tags
Red Red List (low evidence)	MUC5B	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category C gene Expert Review Red Phenotypes Pulmonary fibrosis, idiopathic Tags
Red Red List (low evidence)	MUTYH	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Red Phenotypes Adenomas, multiple colorectal, MIM# 608456 Tags
Red Red List (low evidence)	MYBPC1	2 reviews 2 red	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources BabySeq Category C gene Expert Review Red Phenotypes Myopathy, congenital, with tremor MIM#618524 Lethal congenital contracture syndrome 4, MIM# 614915 Arthrogryposis, distal, type 1B 614335 Tags
Red Red List (low evidence)	MYBPC3	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category B gene BabySeq Category C gene Expert Review Red Phenotypes Cardiomyopathy, familial hypertrophic Cardiomyopathy, dilated Tags
Red Red List (low evidence)	MYCN	2 reviews 2 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category A gene Expert Review Red Phenotypes Feingold syndrome 1, MIM# 164280 Tags
Red Red List (low evidence)	MYH14	2 reviews 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category A gene Expert Review Red Phenotypes Deafness, autosomal dominant 4A, MIM# 600652 Peripheral neuropathy, myopathy, hoarseness, and hearing loss 614369 Tags
Red Red List (low evidence)	MYH2	2 reviews 2 red	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Red Phenotypes Proximal myopathy and ophthalmoplegia, MIM# 605637 Tags
Red Red List (low evidence)	MYH3	2 reviews 2 red	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Red Phenotypes 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 Tags
Red Red List (low evidence)	MYH6	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category C gene Expert Review Red Phenotypes Cardiomyopathy, dilated Cardiomyopathy, familial hypertrophic Atrial septal defect Tags
Red Red List (low evidence)	MYH9	2 reviews 2 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category A gene Expert Review Red Phenotypes Deafness, autosomal dominant 17, MIM# 603622 Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss, MIM# 155100 Tags
Red Red List (low evidence)	MYLK2	0 reviews	Unknown	Sources BabySeq Category C gene Expert Review Red Phenotypes Cardiomyopathy, hypertrophic Tags
Red Red List (low evidence)	MYO1C	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category C gene Expert Review Red Phenotypes Sensorineural hearing loss Tags
Red Red List (low evidence)	MYO1E	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category C gene Expert Review Red Phenotypes Focal segmental glomerulosclerosis Tags
Red Red List (low evidence)	MYO1F	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category C gene Expert Review Red Phenotypes Sensorineural hearing loss Tags
Red Red List (low evidence)	MYO5A	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category C gene Expert Review Red Phenotypes Griscelli syndrome Tags
Red Red List (low evidence)	MYO9A	2 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources BeginNGS Expert Review Red Phenotypes Myasthenic syndrome, congenital, 24, presynaptic, MIM# 618198 Tags
Red Red List (low evidence)	MYOM1	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category C gene Expert Review Red Phenotypes Cardiomyopathy, hypertrophic Tags
Red Red List (low evidence)	MYOT	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category C gene Expert Review Red Phenotypes Myofibrillar myopathy Tags
Red Red List (low evidence)	MYOZ2	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category C gene Expert Review Red Phenotypes Cardiomyopathy, hypertrophic Tags
Red Red List (low evidence)	MYPN	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category C gene Expert Review Red Phenotypes Cardiomyopathy, hypertrophic Cardiomyopathy, dilated Tags
Red Red List (low evidence)	NAA10	0 reviews	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources BabySeq Category C gene Expert Review Red Phenotypes N-terminal acetyltransferase deficiency Tags
Red Red List (low evidence)	NAA15	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category C gene Expert Review Red Phenotypes Congenital heart disease Tags
Red Red List (low evidence)	NAGA	2 reviews 2 red	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Red Phenotypes Kanzaki disease, MIM# 609242 Tags
Red Red List (low evidence)	NAXE	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Red Phenotypes Encephalopathy, progressive, early-onset, with brain oedema and/or leukoencephalopathy, MIM# 617186 Tags metabolic treatable
Red Red List (low evidence)	NBN	2 reviews 2 red	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene BeginNGS Expert Review Red Phenotypes Nijmegen breakage syndrome, MIM#251260 Tags
Red Red List (low evidence)	NDP	2 reviews 1 green 1 red	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources BabySeq Category A gene Expert Review Red Phenotypes Norrie disease, MIM# 310600 Tags
Red Red List (low evidence)	NEB	2 reviews 2 red	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Red Phenotypes Nemaline myopathy 2, autosomal recessive 256030 Arthrogryposis multiplex congenita 6, MIM# 619334 Tags
Red Red List (low evidence)	NEBL	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category C gene Expert Review Red Phenotypes Cardiomyopathy, dilated Tags
Red Red List (low evidence)	NECTIN1	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category C gene Expert Review Red Phenotypes Cleft lip / palate Tags
Red Red List (low evidence)	NEDD4L	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category C gene Expert Review Red Phenotypes Epilepsy, photosensitive generalised Tags
Red Red List (low evidence)	NEFL	2 reviews 2 red	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Red Phenotypes Charcot-Marie-Tooth disease, dominant intermediate G, MIM# 617882 Charcot-Marie-Tooth disease, type 1F, MIM# 607734 Charcot-Marie-Tooth disease, type 2E 607684 Tags
Red Red List (low evidence)	NEK1	2 reviews 2 red	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category C gene Expert Review Red Phenotypes Short-rib thoracic dysplasia 6 with or without polydactyly, MIM# 263520 Tags
Red Red List (low evidence)	NEK8	2 reviews 2 red	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category C gene Expert Review Red Phenotypes MONDO:0014174 Renal-hepatic-pancreatic dysplasia 2, MIM# 615415 Tags
Red Red List (low evidence)	NEU1	2 reviews 2 red	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Red Phenotypes Sialidosis, type I and type II, MIM# 256550 Tags
Red Red List (low evidence)	NEXN	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category C gene Expert Review Red Phenotypes Cardiomyopathy, familial hypertrophic Cardiomyopathy, dilated Tags
Red Red List (low evidence)	NF1	2 reviews 1 green 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category A gene Expert Review Red Phenotypes Neurofibromatosis, type 1, MIM# 162200 Tags for review
Red Red List (low evidence)	NF2	2 reviews 2 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category A gene Expert Review Red Phenotypes Neurofibromatosis, type 2 (MIM# 101000) Tags
Red Red List (low evidence)	NFATC1	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category C gene Expert Review Red Phenotypes Congenital heart disease Tags
Red Red List (low evidence)	NGLY1	2 reviews 2 red	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Red Phenotypes Congenital disorder of deglycosylation, MIM# 615273 Tags
Red Red List (low evidence)	NHLRC1	2 reviews 2 red	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Red Phenotypes Epilepsy, progressive myoclonic 2B (Lafora), MIM# 254780 Tags
Red Red List (low evidence)	NHP2	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category C gene Expert Review Red Phenotypes Dyskeratosis congenita Tags
Red Red List (low evidence)	NIN	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category C gene Expert Review Red Phenotypes Seckel syndrome Tags
Red Red List (low evidence)	NIPBL	2 reviews 2 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category A gene Expert Review Red Phenotypes Cornelia de Lange syndrome 1, MIM# 122470 Tags
Red Red List (low evidence)	NKX3-2	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category C gene Expert Review Red Phenotypes Spondylo-megaepiphyseal-metaphyseal dysplasia Tags
Red Red List (low evidence)	NLGN3	0 reviews	Unknown	Sources BabySeq Category C gene Expert Review Red Phenotypes Autism Tags
Red Red List (low evidence)	NLGN4X	1 review 1 red	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources BabySeq Category C gene Expert Review Red Phenotypes Intellectual developmental disorder, X-linked MIM#300495 Tags
Red Red List (low evidence)	NLRP7	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category C gene Expert Review Red Phenotypes Hydatidiform mole Tags
Red Red List (low evidence)	NME8	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category C gene Expert Review Red Phenotypes Ciliary dyskinesia, primary Tags
Red Red List (low evidence)	NOG	2 reviews 2 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category A gene Expert Review Red Phenotypes 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) Tags
Red Red List (low evidence)	NOP10	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category C gene Expert Review Red Phenotypes Dyskeratosis congenita Tags
Red Red List (low evidence)	NOTCH1	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category C gene Expert Review Red Phenotypes Aortic valve disease Tags
Red Red List (low evidence)	NOTCH2	2 reviews 2 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category A gene Expert Review Red Phenotypes Alagille syndrome 2 (MIM#610205) Hajdu-Cheney syndrome (MIM#102500) Tags
Red Red List (low evidence)	NOTCH3	2 reviews 2 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category A gene Expert Review Red Phenotypes Cerebral arteriopathy with subcortical infarcts and leukoencephalopathy 1, MIM# 125310 Tags
Red Red List (low evidence)	NPHP1	2 reviews 2 red	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Red Phenotypes Joubert syndrome 4, MIM# 609583 Nephronophthisis 1, juvenile, MIM# 256100 Senior-Loken syndrome-1, MIM# 266900 Tags
Red Red List (low evidence)	NPHP3	2 reviews 2 red	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Red Phenotypes Renal-hepatic-pancreatic dysplasia 1, MIM# 208540 Tags
Red Red List (low evidence)	NPHP4	2 reviews 2 red	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Red Phenotypes Nephronophthisis 4, MIM# 606966 Senior-Loken syndrome 4, MIM# 606996 Tags
Red Red List (low evidence)	NPHS1	2 reviews 2 red	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Red Phenotypes Nephrotic syndrome, type 1, MIM# 256300 Tags
Red Red List (low evidence)	NPPA	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category C gene Expert Review Red Phenotypes Atrial fibrillation Tags
Red Red List (low evidence)	NR1H4	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category C gene Expert Review Red Phenotypes Cholestasis, infantile Tags
Red Red List (low evidence)	NRG1	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category C gene Expert Review Red Phenotypes Hirschsprung disease Tags
Red Red List (low evidence)	NRXN1	0 reviews	Unknown	Sources BabySeq Category C gene Expert Review Red Phenotypes Autism Tags
Red Red List (low evidence)	NSD1	2 reviews 2 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category A gene Expert Review Red Phenotypes Sotos syndrome 1, MIM# 117550 Tags
Red Red List (low evidence)	NSDHL	0 reviews	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources BabySeq Category A gene BabySeq Category C gene Expert Review Red Phenotypes CK syndrome CHILD syndrome Tags
Red Red List (low evidence)	NTRK1	2 reviews 2 red	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene BabySeq Category C gene Expert Review Red Phenotypes Congenital insensitivity to pain with anhidrosis MIM#256800 Tags
Red Red List (low evidence)	NUB1	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category C gene Expert Review Red Phenotypes Congenital heart disease Tags
Red Red List (low evidence)	NUP155	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category C gene Expert Review Red Phenotypes Atrial fibrillation Tags
Red Red List (low evidence)	NUP62	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category C gene Expert Review Red Phenotypes Striatonigral degeneration, infantile Tags
Red Red List (low evidence)	OBSL1	2 reviews 2 red	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Red Phenotypes 3-M syndrome 2, MIM #612921 Tags
Red Red List (low evidence)	OCA2	2 reviews 2 red	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Red Phenotypes Albinism, brown oculocutaneous, MIM# 203200 Albinism, oculocutaneous, type II, MIM# 203200 Tags
Red Red List (low evidence)	OCRL	2 reviews 2 red	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources BabySeq Category A gene Expert Review Red Phenotypes Dent disease 2, MIM# 300555 Lowe syndrome , MIM#309000 Tags
Red Red List (low evidence)	OFD1	2 reviews 2 red	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources BabySeq Category A gene Expert Review Red Phenotypes Retinitis pigmentosa 23, MIM# 300424 Joubert syndrome 10, MIM# 300804 Orofaciodigital syndrome I, MIM# 311200 Tags
Red Red List (low evidence)	OPA1	2 reviews 2 red	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Red Phenotypes 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 Tags
Red Red List (low evidence)	OPA3	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category A gene BabySeq Category C gene Expert Review Red Phenotypes Optic atrophy 3 with cataract 3-methylglutaconic aciduria, type III Tags
Red Red List (low evidence)	ORC1	2 reviews 2 red	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Red Phenotypes Meier-Gorlin syndrome 1, MIM# 224690 Tags
Red Red List (low evidence)	ORC4	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category C gene Expert Review Red Phenotypes Meier-Gorlin syndrome Tags
Red Red List (low evidence)	ORC6	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category C gene Expert Review Red Phenotypes Meier-Gorlin syndrome Tags
Red Red List (low evidence)	OSMR	2 reviews 2 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category A gene Expert Review Red Phenotypes Amyloidosis, primary localized cutaneous, 1 - MIM#105250 Tags
Red Red List (low evidence)	OSTM1	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Red Phenotypes Osteopetrosis, autosomal recessive 5, MIM#259720 Tags
Red Red List (low evidence)	OTUD4	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category C gene Expert Review Red Phenotypes Hypogonadotropic hypogonadism, ataxia & dementia Tags
Red Red List (low evidence)	P2RX2	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category C gene Expert Review Red Phenotypes Hearing loss Tags
Red Red List (low evidence)	P2RY12	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Red Phenotypes Bleeding disorder, platelet-type, 8, MIM# 609821 MONDO:0012354 Tags
Red Red List (low evidence)	PABPN1	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category C gene Expert Review Red Phenotypes Oculopharyngeal muscular dystrophy Tags
Red Red List (low evidence)	PAK3	1 review 1 red	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources BabySeq Category A gene Expert Review Red Phenotypes Mental retardation syndrome, X-linked 30, MIM#300558 Tags
Red Red List (low evidence)	PANK2	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Red Phenotypes Neurodegeneration with brain iron accumulation 1 (aka Hallervorden-Spatz disease), OMIM 234200 Tags
Red Red List (low evidence)	PAX5	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Red Phenotypes {Leukemia, acute lymphoblastic, susceptibility to, 3} MIM#615545 Tags
Red Red List (low evidence)	PAX6	2 reviews 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category A gene Expert Review Red Phenotypes Aniridia, OMIM 106210 Tags
Red Red List (low evidence)	PCNT	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Red Phenotypes Microcephalic osteodysplastic primordial dwarfism, type II, 210720 Tags
Red Red List (low evidence)	PDE11A	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category C gene Expert Review Red Phenotypes Adrenocortical hyperplasia Tags
Red Red List (low evidence)	PDE4D	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category A gene Expert Review Red Phenotypes Acrodysostosis 2, with or without hormone resistance, MIM#614613 Tags
Red Red List (low evidence)	PDLIM3	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category C gene Expert Review Red Phenotypes Cardiomyopathy, dilated Tags
Red Red List (low evidence)	PDSS1	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category C gene BeginNGS Expert Review Red Phenotypes Coenzyme Q10 deficiency, primary, 2, MIM# 614651 Deafness - encephaloneuropathy - obesity - valvulopathy Neonatal Tags
Red Red List (low evidence)	PDSS2	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category C gene BeginNGS Expert Review Red Phenotypes Coenzyme Q10 deficiency, primary, 3, MIM# 614652 Leigh syndrome with nephropathy and COQ10 deficiency Tags
Red Red List (low evidence)	PEX1	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Red Phenotypes Peroxisome biogenesis disorder 1A (Zellweger), MIM# 214100 Tags
Red Red List (low evidence)	PEX10	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Red Phenotypes Peroxisome biogenesis disorder 6A (Zellweger) (MIM#614870) Tags
Red Red List (low evidence)	PEX11B	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category C gene Expert Review Red Phenotypes Peroxisome biogenesis disorder Tags
Red Red List (low evidence)	PEX12	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Red Phenotypes Peroxisome biogenesis disorder 3A (Zellweger) (MIM#614859) Tags
Red Red List (low evidence)	PEX13	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Red Phenotypes Peroxisome biogenesis disorder 11A (Zellweger) (MIM#614883) Tags
Red Red List (low evidence)	PEX14	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category C gene Expert Review Red Phenotypes Zellweger syndrome Tags
Red Red List (low evidence)	PEX16	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category C gene Expert Review Red Phenotypes Zellweger syndrome Tags
Red Red List (low evidence)	PEX19	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category C gene Expert Review Red Phenotypes Zellweger syndrome Tags
Red Red List (low evidence)	PEX2	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Red Phenotypes Peroxisome biogenesis disorder 5A (Zellweger) MIM#614866 Tags
Red Red List (low evidence)	PEX26	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Red Phenotypes Peroxisome biogenesis disorder 7A (Zellweger) MIM#614872 Tags
Red Red List (low evidence)	PEX3	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Red Phenotypes Peroxisome biogenesis disorder 10A (Zellweger) 614882 Tags
Red Red List (low evidence)	PEX5	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Red Phenotypes Peroxisome biogenesis disorder 10A (Zellweger) 614882 Tags
Red Red List (low evidence)	PEX6	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Red Phenotypes Peroxisome biogenesis disorder 4A (Zellweger) (MIM#614862) Tags
Red Red List (low evidence)	PEX7	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Red Phenotypes Peroxisome biogenesis disorder 9B, MIM# 614879 Rhizomelic chondrodysplasia punctata, type 1, MIM# 215100 Tags
Red Red List (low evidence)	PFKM	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Red Phenotypes Glycogen storage disease VII (MIM#232800) Tags
Red Red List (low evidence)	PHF6	1 review 1 red	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources BabySeq Category A gene Expert Review Red Phenotypes Borjeson-Forssman-Lehmann syndrome, MIM# 301900 Tags
Red Red List (low evidence)	PHKA1	0 reviews	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources BabySeq Category C gene Expert Review Red Phenotypes Phosphorylase kinase deficiency Tags
Red Red List (low evidence)	PHOX2A	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category C gene Expert Review Red Phenotypes Fibrosis of extraocular muscles, congenital Tags
Red Red List (low evidence)	PHOX2B	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category B gene Expert Review Red Phenotypes Central hypoventilation syndrome, congenital, 1, with or without Hirschsprung disease, MIM# 209880 Tags
Red Red List (low evidence)	PHYH	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Red Phenotypes Refsum disease, MIM# 266500 Tags treatable
Red Red List (low evidence)	PIEZO2	1 review 1 red	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Red Phenotypes 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 Tags
Red Red List (low evidence)	PIGA	2 reviews 1 red	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources BabySeq Category C gene Expert Review Red Phenotypes Multiple congenital anomalies-hypotonia-seizures syndrome 2, MIM# 300868, MONDO:0010466 Tags
Red Red List (low evidence)	PIK3CA	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Red Phenotypes PIK3CA related overgrowth spectrum Tags
Red Red List (low evidence)	PINK1	1 review 1 red	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Red Phenotypes Parkinson disease 6, early onset, MIM#605909 Tags
Red Red List (low evidence)	PKHD1	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Red Phenotypes Polycystic kidney disease 4, with or without hepatic disease, MIM# 263200 Tags
Red Red List (low evidence)	PLA2G6	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Red Phenotypes Infantile neuroaxonal dystrophy 1 MIM#256600 Neurodegeneration with brain iron accumulation 2B MIM#610217 Parkinson disease 14, autosomal recessive MIM#612953 Tags
Red Red List (low evidence)	PLCE1	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Red Phenotypes Nephrotic syndrome, type 3, MIM# 610725 Tags
Red Red List (low evidence)	PLEC	1 review 1 red	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Red Phenotypes 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 Tags
Red Red List (low evidence)	PLN	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category B gene BabySeq Category C gene Expert Review Red Phenotypes Cardiomyopathy, familial hypertrophic Cardiomyopathy, dilated Tags
Red Red List (low evidence)	PLOD1	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Red Phenotypes Ehlers-Danlos syndrome, kyphoscoliotic type, MIM# 225400 Tags
Red Red List (low evidence)	PLOD2	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category C gene Expert Review Red Phenotypes Bruck syndrome 2, MIM# 609220 Tags
Red Red List (low evidence)	PLP1	1 review 1 red	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources BabySeq Category A gene Expert Review Red Phenotypes Pelizaeus-Merzbacher disease MIM#312080 Spastic paraplegia 2, X-linked MIM#312920 Tags
Red Red List (low evidence)	PMM2	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Red Phenotypes Congenital disorder of glycosylation, type Ia, MIM# 212065 Tags
Red Red List (low evidence)	PMP22	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category A gene Expert Review Red Phenotypes 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 Tags
Red Red List (low evidence)	PNKD	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category A gene Expert Review Red Phenotypes Paroxysmal nonkinesigenic dyskinesia 1, MIM# 118800 Tags
Red Red List (low evidence)	PNKP	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Red Phenotypes Ataxia-oculomotor apraxia 4, MIM#616267 Microcephaly, seizures, and developmental delay, MIM#613402 Tags
Red Red List (low evidence)	PNPLA1	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category C gene Expert Review Red Phenotypes Ichthyosis, autosomal recessive congenital Tags
Red Red List (low evidence)	PODXL	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category C gene Expert Review Red Phenotypes Focal and segmental glomerulosclerosis Tags
Red Red List (low evidence)	POLG	2 reviews 1 red	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Red Phenotypes 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 Tags
Red Red List (low evidence)	POLH	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Red Phenotypes Xeroderma pigmentosum, variant type, MIM# 278750 Tags
Red Red List (low evidence)	POMGNT1	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Red Phenotypes 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 Tags
Red Red List (low evidence)	POMT1	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Red Phenotypes 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 Tags
Red Red List (low evidence)	POMT2	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Red Phenotypes 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 Tags
Red Red List (low evidence)	PORCN	1 review 1 red	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources BabySeq Category A gene Expert Review Red Phenotypes Focal dermal hypoplasia, MIM#305600 Tags
Red Red List (low evidence)	POU4F3	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category A gene Expert Review Red Phenotypes Deafness, autosomal dominant 15, MIM# 602459 Tags
Red Red List (low evidence)	PPIB	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Red Phenotypes Osteogenesis imperfecta, type IX, MIM# 259440 Tags skeletal
Red Red List (low evidence)	PPT1	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Red Phenotypes Ceroid lipofuscinosis, neuronal, 1, MIM# 256730 Tags
Red Red List (low evidence)	PQBP1	1 review 1 red	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources BabySeq Category A gene Expert Review Red Phenotypes Renpenning syndrome, MIM#309500 Tags
Red Red List (low evidence)	PRDM16	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category C gene Expert Review Red Phenotypes Left ventricular noncompaction Tags
Red Red List (low evidence)	PREPL	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category C gene BeginNGS Expert Review Red Phenotypes Hypotonia - cystinuria syndrome Myasthenic syndrome, congenital, 22, MIM# 616224 Tags
Red Red List (low evidence)	PRICKLE1	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category C gene Expert Review Red Phenotypes Epilepsy, progressive myoclonic 1B Tags
Red Red List (low evidence)	PRKAG2	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category A gene BabySeq Category B gene BabySeq Category C gene Expert Review Red Phenotypes Cardiomyopathy, hypertrophic Wolff-Parkinson-White syndrome Glycogen storage disease of heart, lethal congenital Tags
Red Red List (low evidence)	PRKCSH	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category C gene Expert Review Red Phenotypes Polycystic liver disease Tags
Red Red List (low evidence)	PROC	1 review 1 red	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Red Phenotypes Thrombophilia due to protein C deficiency, autosomal dominant (176860) Thrombophilia due to protein C deficiency, autosomal recessive (612304) Tags
Red Red List (low evidence)	PRODH	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category C gene Expert Review Red Phenotypes Hyperprolinemia, type I Tags
Red Red List (low evidence)	PROKR2	1 review 1 red	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Red Phenotypes Hypogonadotropic hypogonadism 3 with or without anosmia, MIM# 244200 Tags
Red Red List (low evidence)	PROS1	1 review 1 red	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Red Phenotypes Thrombophilia 5 due to protein S deficiency, autosomal dominant, MIM# 612336 Thrombophilia 5 due to protein S deficiency, autosomal recessive, MIM# 614514 Tags
Red Red List (low evidence)	PRPS1	0 reviews	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources BabySeq Category C gene Expert Review Red Phenotypes Charcot-Marie-Tooth disease Arts syndrome Tags
Red Red List (low evidence)	PRRX1	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category C gene Expert Review Red Phenotypes Agnathia-otocephaly complex Tags
Red Red List (low evidence)	PRX	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Red Phenotypes Charcot-Marie-Tooth disease, type 4F, MIM# 614895 Dejerine-Sottas disease, MIM# 145900 Tags
Red Red List (low evidence)	PSAP	1 review 1 red	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Red Phenotypes 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 Tags
Red Red List (low evidence)	PSAT1	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category C gene BeginNGS Expert Review Red Phenotypes Phosphoserine aminotransferase deficiency , MIM# 610992 Phosphoserine aminotransferase deficiency Tags
Red Red List (low evidence)	PSEN1	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category C gene Expert Review Red Phenotypes Alzheimer disease, type 3 Tags
Red Red List (low evidence)	PSEN2	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category C gene Expert Review Red Phenotypes Alzheimer disease, type 4 Tags
Red Red List (low evidence)	PTEN	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category A gene Expert Review Red Phenotypes Cowden syndrome 1, MIM# 158350 Macrocephaly/autism syndrome, MIM# 605309 Tags cancer for review
Red Red List (low evidence)	PTH1R	1 review 1 red	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Red Phenotypes Failure of tooth eruption, primary MIM#125350 Eiken syndrome MIM#600002 Metaphyseal chondrodysplasia, Murk Jansen type MIM#156400 Chondrodysplasia, Blomstrand type MIM#215045 Tags
Red Red List (low evidence)	PTPN11	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category A gene Expert Review Red Phenotypes Noonan syndrome 1, MIM# 163950 Tags
Red Red List (low evidence)	PYGM	1 review 1 red	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert list Expert Review Red Phenotypes McArdle disease, MIM# 232600 Glycogen storage disease, autosomal dominant Tags
Red Red List (low evidence)	RAB10	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category C gene Expert Review Red Phenotypes Congenital heart disease Tags
Red Red List (low evidence)	RAB23	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Red Phenotypes Carpenter syndrome (MIM#201000) Tags
Red Red List (low evidence)	RAB3GAP1	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Red Phenotypes Warburg micro syndrome 1, MIM# 600118 Martsolf syndrome 2, MIM# 619420 Tags
Red Red List (low evidence)	RAB3GAP2	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category C gene Expert Review Red Phenotypes Warburg micro syndrome 2, MIM# 614225 Tags
Red Red List (low evidence)	RAB7A	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category A gene Expert Review Red Phenotypes Charcot-Marie-Tooth disease, type 2B, MIM# 600882 Tags
Red Red List (low evidence)	RAD51B	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category C gene Expert Review Red Phenotypes Breast and/or ovarian cancer Tags
Red Red List (low evidence)	RAF1	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category A gene Expert Review Red Phenotypes Noonan syndrome 5, MIM# 611553 Tags
Red Red List (low evidence)	RAI1	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category A gene Expert Review Red Phenotypes Smith-Magenis syndrome (MIM#182290) Tags
Red Red List (low evidence)	RANGRF	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category C gene Expert Review Red Phenotypes Brugada syndrome Tags
Red Red List (low evidence)	RASA1	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category A gene Expert Review Red Phenotypes Capillary malformation-arteriovenous malformation 1, MIM#608354 Tags
Red Red List (low evidence)	RBM8A	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Red Phenotypes Thrombocytopenia-absent radius syndrome, MIM# 274000 Tags
Red Red List (low evidence)	RECQL4	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Red Phenotypes Rothmund-Thomson syndrome, type 2, MIM# 268400 Tags
Red Red List (low evidence)	RELN	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category C gene Expert Review Red Phenotypes Lissencephaly syndrome Tags
Red Red List (low evidence)	REN	1 review 1 red	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Red Phenotypes Renal tubular dysgenesis, MIM# 267430 Tags
Red Red List (low evidence)	RETREG1	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category C gene Expert Review Red Phenotypes Neuropathy, hereditary sensory and autonomic, type IIB, MIM# 613115 Tags
Red Red List (low evidence)	RFWD3	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources BeginNGS Expert Review Red Phenotypes Fanconi anaemia, complementation group W, MIM# 617784 Tags
Red Red List (low evidence)	RFX6	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category C gene Expert Review Red Phenotypes Diabetes, neonatal, with intestinal atresia Tags
Red Red List (low evidence)	RHAG	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category C gene Expert Review Red Phenotypes Rh-deficiency syndrome Tags
Red Red List (low evidence)	ROR2	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Red Phenotypes Robinow syndrome, autosomal recessive - MIM#268310 Tags
Red Red List (low evidence)	RPGR	1 review 1 red	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources BabySeq Category A gene Expert Review Red Phenotypes Retinitis pigmentosa, X-linked, and sinorespiratory infections, with or without deafness, MIM# 300455 Tags
Red Red List (low evidence)	RPGRIP1L	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Red Phenotypes Joubert syndrome 7, MIM# 611560 Meckel syndrome 5, MIM# 611561 COACH syndrome 3, MIM# 619113 Nephronophthisis Tags
Red Red List (low evidence)	RPL18	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BeginNGS Expert Review Red Phenotypes Diamond-Blackfan anaemia 18 , MIM# 618310 Tags
Red Red List (low evidence)	RPL26	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BeginNGS Expert Review Red Phenotypes Diamond-Blackfan anaemia 11 , MIM# 614900 Tags
Red Red List (low evidence)	RPL27	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BeginNGS Expert Review Red Phenotypes Diamond-Blackfan anaemia 16 , MIM# 617408 Tags
Red Red List (low evidence)	RPL35	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BeginNGS Expert Review Red Phenotypes Diamond-Blackfan anaemia 19 , MIM# 618312 Tags
Red Red List (low evidence)	RPS15	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category A gene Expert Review Red Phenotypes Diamond-Blackfan anaemia, MONDO:0015253, RPS15-related Tags
Red Red List (low evidence)	RPS15A	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BeginNGS Expert Review Red Phenotypes Diamond-Blackfan anaemia 20, MIM# 618313 Tags for review haematological treatable
Red Red List (low evidence)	RPS27	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BeginNGS Expert Review Red Phenotypes Diamond-Blackfan anaemia 17, MIM# 617409 Tags for review haematological treatable
Red Red List (low evidence)	RPS28	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BeginNGS Expert Review Red Phenotypes Diamond Blackfan anaemia 15 with mandibulofacial dysostosis, MIM# 606164 Tags for review haematological treatable
Red Red List (low evidence)	RPS29	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BeginNGS Expert Review Red Phenotypes Diamond-Blackfan anaemia 13, MIM# 615909 Tags for review haematological treatable
Red Red List (low evidence)	RPS6KA3	1 review 1 red	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources BabySeq Category A gene Expert Review Red Phenotypes Coffin-Lowry syndrome MIM# 303600 Tags
Red Red List (low evidence)	RRM2B	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Red Phenotypes 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 Tags
Red Red List (low evidence)	RS1	1 review 1 red	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources BabySeq Category A gene Expert Review Red Phenotypes Retinoschisis, MIM#312700 Tags
Red Red List (low evidence)	RSPH4A	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Red Phenotypes Ciliary dyskinesia, primary, 11 (MIM#612649) Tags
Red Red List (low evidence)	RSPH9	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Red Phenotypes Ciliary dyskinesia, primary, 12 (MIM#612650) Tags
Red Red List (low evidence)	RUNX2	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category A gene Expert Review Red Phenotypes 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 Tags
Red Red List (low evidence)	SACS	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Red Phenotypes Spastic ataxia, Charlevoix-Saguenay type MIM#270550 Tags
Red Red List (low evidence)	SALL1	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category A gene Expert Review Red Phenotypes Townes-Brocks syndrome 1, MIM#107480 Tags
Red Red List (low evidence)	SARS	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Red Phenotypes Neurodevelopmental disorder with microcephaly, ataxia, and seizures MIM#617709 Tags
Red Red List (low evidence)	SC5D	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category C gene Expert Review Red Phenotypes Lathosterolosis Tags
Red Red List (low evidence)	SCARB2	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Red Phenotypes Epilepsy, progressive myoclonic 4, with or without renal failure MIM#254900 Tags
Red Red List (low evidence)	SCN11A	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category A gene Expert Review Red Phenotypes Neuropathy, hereditary sensory and autonomic, type VII, MIM# 615548 Tags
Red Red List (low evidence)	SCN1A	2 reviews 1 green 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category A gene BeginNGS Expert Review Red Phenotypes Epileptic encephalopathy, early infantile, 6 (Dravet syndrome), MIM#604403 Developmental and epileptic encephalopathy 6B, non-Dravet , MIM#619317 Tags
Red Red List (low evidence)	SCN1B	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category C gene Expert Review Red Phenotypes Brugada syndrome Tags
Red Red List (low evidence)	SCN2A	2 reviews 1 green 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BeginNGS Expert Review Red Phenotypes Developmental and epileptic encephalopathy 11, MIM# 613721 Tags
Red Red List (low evidence)	SCN2B	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category C gene Expert Review Red Phenotypes Atrial fibrillation Tags
Red Red List (low evidence)	SCN3A	2 reviews 1 green 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BeginNGS Expert Review Red Phenotypes Epileptic encephalopathy, early infantile, 62, MIM# 617938 Tags
Red Red List (low evidence)	SCN3B	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category C gene Expert Review Red Phenotypes Brugada syndrome Tags
Red Red List (low evidence)	SCN4A	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category A gene BabySeq Category C gene BeginNGS Expert Review Red Phenotypes 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 Tags
Red Red List (low evidence)	SCN4B	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category C gene Expert Review Red Phenotypes Long QT syndrome Tags
Red Red List (low evidence)	SCN8A	2 reviews 1 green 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BeginNGS Expert Review Red Phenotypes Developmental and epileptic encephalopathy 13, MIM#614558 Tags
Red Red List (low evidence)	SCO1	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category C gene Expert Review Red Phenotypes Hepatic failure, early onset, and neurologic disorder Tags
Red Red List (low evidence)	SCO2	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Red Phenotypes Mitochondrial complex IV deficiency, nuclear type 2, MC4DN2, MIM#604377 Tags
Red Red List (low evidence)	SCP2	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category C gene Expert Review Red Phenotypes Leukoencephalopathy - dystonia - motor neuropathy Tags
Red Red List (low evidence)	SDHD	2 reviews 2 red	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Red Phenotypes Mitochondrial complex II deficiency, nuclear type 3, MIM# 619167 Paragangliomas 1, with or without deafness, MIM# 168000 Tags
Red Red List (low evidence)	SEC63	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category C gene Expert Review Red Phenotypes Polycystic liver disease Tags
Red Red List (low evidence)	SELENON	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Red Phenotypes Myopathy, congenital, with fiber-type disproportion, MIM# 255310 Tags
Red Red List (low evidence)	SEMA3A	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category C gene Expert Review Red Phenotypes Kallmann syndrome 1 Tags
Red Red List (low evidence)	SERPINA1	2 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category C gene Expert Review Red Phenotypes Emphysema-cirrhosis, due to AAT deficiency, MIM# 613490 Tags
Red Red List (low evidence)	SERPINB6	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category C gene Expert Review Red Phenotypes Deafness, autosomal recessive Tags
Red Red List (low evidence)	SERPINC1	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category C gene Expert Review Red Phenotypes Thrombophilia due to antithrombin III deficiency Tags
Red Red List (low evidence)	SERPIND1	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category C gene Expert Review Red Phenotypes Heparin cofactor 2 deficiency Tags
Red Red List (low evidence)	SERPING1	1 review 1 red	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert list Expert Review Red Phenotypes Angioedema, hereditary, 1 and 2 MIM#106100 Tags immunological treatable
Red Red List (low evidence)	SETBP1	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category A gene Expert Review Red Phenotypes Schinzel-Giedion midface retraction syndrome, MIM# 269150 Tags
Red Red List (low evidence)	SETX	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Red Phenotypes Spinocerebellar ataxia, autosomal recessive 1, 606002 Tags
Red Red List (low evidence)	SFTPA2	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category C gene Expert Review Red Phenotypes Pulmonary fibrosis, idiopathic Tags
Red Red List (low evidence)	SFTPB	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Red Phenotypes Surfactant metabolism dysfunction, pulmonary, 1, MIM# 265120 Tags
Red Red List (low evidence)	SFTPC	2 reviews 1 green 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category C gene Expert Review Red Phenotypes Surfactant metabolism dysfunction, pulmonary, 2, MIM# 610913 Tags
Red Red List (low evidence)	SGCA	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Red Phenotypes Muscular dystrophy, limb-girdle, autosomal recessive 3 MIM#608099 Tags
Red Red List (low evidence)	SGCB	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Red Phenotypes Muscular dystrophy, limb-girdle, autosomal recessive 4 MIM#604286 Tags
Red Red List (low evidence)	SGCD	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene BabySeq Category C gene Expert Review Red Phenotypes Muscular dystrophy, limb-girdle, autosomal recessive 6, MIM# 601287 Tags
Red Red List (low evidence)	SGCG	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Red Phenotypes Muscular dystrophy, limb-girdle, autosomal recessive 5 MIM#253700 Tags
Red Red List (low evidence)	SH3BP2	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category C gene Expert Review Red Phenotypes Cherubism Tags
Red Red List (low evidence)	SH3TC2	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Red Phenotypes Charcot-Marie-Tooth disease, type 4C MIM#601596 Tags
Red Red List (low evidence)	SHANK3	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category A gene Expert Review Red Phenotypes Phelan-McDermid syndrome, MIM# 606232 MONDO:0011652 Tags
Red Red List (low evidence)	SHH	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category A gene Expert Review Red Phenotypes Holoprosencephaly 3, MIM#142945 Tags
Red Red List (low evidence)	SHOC2	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category C gene Expert Review Red Phenotypes Noonan-like syndrome with loose anagen hair Tags
Red Red List (low evidence)	SIL1	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Red Phenotypes Marinesco-Sjogren syndrome, MIM#248800 Tags
Red Red List (low evidence)	SIX1	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category A gene Expert Review Red Phenotypes Branchiootic syndrome 3, MIM# 608389 Tags
Red Red List (low evidence)	SIX2	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category C gene Expert Review Red Phenotypes Renal hypodysplasia Tags
Red Red List (low evidence)	SIX3	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category A gene Expert Review Red Phenotypes Holoprosencephaly 2, MIM# 157170 Tags
Red Red List (low evidence)	SIX5	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category C gene Expert Review Red Phenotypes Branchiootorenal syndrome Tags
Red Red List (low evidence)	SKI	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category A gene Expert Review Red Phenotypes Shprintzen-Goldberg syndrome, MIM#182212 Tags
Red Red List (low evidence)	SLC11A2	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category C gene Expert Review Red Phenotypes Anemia, hypochromic microcytic Tags
Red Red List (low evidence)	SLC12A3	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Red Phenotypes Gitelman syndrome, MIM# 263800 Tags
Red Red List (low evidence)	SLC12A5	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category C gene Expert Review Red Phenotypes Febrile seizures Tags
Red Red List (low evidence)	SLC12A6	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Red Phenotypes Agenesis of the corpus callosum with peripheral neuropathy, MIM#21800 Tags
Red Red List (low evidence)	SLC13A5	2 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Phenotypes Developmental and epileptic encephalopathy 25, with amelogenesis imperfecta MIM#615905 Tags for review
Red Red List (low evidence)	SLC16A12	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category C gene Expert Review Red Phenotypes Cataract, juvenile with microcornea and renal glucosuria Tags
Red Red List (low evidence)	SLC17A5	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Red Phenotypes Sialic acid storage disorder, infantile, MIM# 269920 Tags
Red Red List (low evidence)	SLC1A3	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Red Phenotypes Episodic ataxia, type 6 MIM#612656 Tags neurological
Red Red List (low evidence)	SLC25A12	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category C gene Expert Review Red Phenotypes Hypomyelination, global cerebral Tags
Red Red List (low evidence)	SLC25A22	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category C gene Expert Review Red Phenotypes Early myoclonic encephalopathy Tags
Red Red List (low evidence)	SLC25A4	1 review 1 red	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Red Phenotypes Mitochondrial DNA depletion syndrome 12A (cardiomyopathic type) AD, MIM#617184 Mitochondrial DNA depletion syndrome 12B (cardiomyopathic type) AR, MIM#615418 Tags
Red Red List (low evidence)	SLC26A2	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Red Phenotypes Achondrogenesis 1B, MIM#600972 Tags for review
Red Red List (low evidence)	SLC27A4	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Red Phenotypes Ichthyosis prematurity syndrome, MIM#608649 Tags
Red Red List (low evidence)	SLC27A5	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category C gene Expert Review Red Phenotypes Bile acid amidation defect Tags
Red Red List (low evidence)	SLC2A10	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Red Phenotypes Arterial tortuosity syndrome MIM#208050 Tags
Red Red List (low evidence)	SLC33A1	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category C gene Expert Review Red Phenotypes Spastic paraplegia, autosomal dominant Congenital cataracts, hearing loss and low serum copper and ceruloplasmin Tags
Red Red List (low evidence)	SLC34A2	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Red Phenotypes Pulmonary alveolar microlithiasis, MIM# 265100 Tags
Red Red List (low evidence)	SLC35A1	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category C gene Expert Review Red Phenotypes CDG syndrome type IIf Tags
Red Red List (low evidence)	SLC35D1	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Red Phenotypes Schneckenbecken dysplasia 269250, MONDO:0010013 Tags
Red Red List (low evidence)	SLC3A1	2 reviews 2 red	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Red Phenotypes Cystinuria, MIM# 220100 Tags for review renal treatable
Red Red List (low evidence)	SLC41A1	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category C gene Expert Review Red Phenotypes Nephronophthisis-like nephropathy 2, MIM# 619468 Tags
Red Red List (low evidence)	SLC45A2	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Red Phenotypes Albinism, oculocutaneous, type IV, MIM# 606574 Tags
Red Red List (low evidence)	SLC4A10	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category C gene Expert Review Red Phenotypes Epilepsy & mental retardation Tags
Red Red List (low evidence)	SLC4A11	1 review 1 red	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Red Phenotypes Corneal endothelial dystrophy and perceptive deafness, MIM# 217400 Tags
Red Red List (low evidence)	SLC4A4	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category C gene Expert Review Red Phenotypes Renal tubular acidosis, proximal, with ocular abnormalities, MIM# 604278 Tags for review
Red Red List (low evidence)	SLC5A2	1 review 1 red	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Red Phenotypes Renal glucosuria, MIM# 233100 Tags
Red Red List (low evidence)	SLC6A19	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category C gene Expert Review Red Phenotypes Hartnup disorder, MIM # 234500 Tags
Red Red List (low evidence)	SLC6A2	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category C gene Expert Review Red Phenotypes Orthostatic intolerance Tags
Red Red List (low evidence)	SLC7A9	2 reviews 2 red	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Red Phenotypes Cystinuria, MIM# 220100 Tags for review
Red Red List (low evidence)	SLC9A3R1	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category C gene Expert Review Red Phenotypes Nephrolithiasis/osteoporosis, hypophosphatemic, 2 Tags
Red Red List (low evidence)	SLC9A6	1 review 1 red	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources BabySeq Category A gene Expert Review Red Phenotypes Mental retardation, X-linked syndromic, Christianson type, MIM# 300243 Tags
Red Red List (low evidence)	SLCO1B1	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category C gene Expert Review Red Phenotypes Hyperbilirubinemia, Rotor type, digenic Tags
Red Red List (low evidence)	SLCO1B3	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category C gene Expert Review Red Phenotypes Hyperbilirubinemia, Rotor type, digenic Tags
Red Red List (low evidence)	SLCO2A1	1 review 1 red	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Red Phenotypes Hypertrophic osteoarthropathy, primary, autosomal recessive 2, MIM# 614441 Hypertrophic osteoarthropathy, primary, autosomal dominant, MIM# 167100 Tags
Red Red List (low evidence)	SMAD1	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category C gene Expert Review Red Phenotypes Pulmonary arterial hypertension Tags
Red Red List (low evidence)	SMAD4	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category A gene Expert Review Red Phenotypes Polyposis, juvenile intestinal, MIM# 174900 Myhre syndrome, MIM# 139210 Tags
Red Red List (low evidence)	SMAD6	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category C gene Expert Review Red Phenotypes Cardiovascular malformation, congenital Tags
Red Red List (low evidence)	SMAD9	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category C gene Expert Review Red Phenotypes Pulmonary arterial hypertension Tags
Red Red List (low evidence)	SMC1A	1 review 1 red	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources BabySeq Category A gene Expert Review Red Phenotypes Cornelia de Lange syndrome 2, MIM# 300590 Epileptic encephalopathy, early infantile, 85, with or without midline brain defects, MIM# 301044 Tags
Red Red List (low evidence)	SMO	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category C gene Expert Review Red Phenotypes Medulloblastoma Tags
Red Red List (low evidence)	SMPX	1 review 1 red	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources BabySeq Category A gene Expert Review Red Phenotypes Deafness, X-linked 4, MIM# 300066 Tags
Red Red List (low evidence)	SNAP25	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BeginNGS Expert Review Red Phenotypes Neurodevelopmental disorder, MONDO:0700092, SNAP25-related Tags for review
Red Red List (low evidence)	SNAP29	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category C gene Expert Review Red Phenotypes Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome Tags
Red Red List (low evidence)	SOD1	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category C gene Expert Review Red Phenotypes Amyotrophic lateral sclerosis Tags
Red Red List (low evidence)	SORD	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Red Phenotypes Sorbitol dehydrogenase deficiency with peripheral neuropathy MIM#618912 Tags metabolic treatable
Red Red List (low evidence)	SOX10	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category A gene Expert Review Red Phenotypes Shah-Waardenburg syndrome Tags
Red Red List (low evidence)	SOX18	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category C gene Expert Review Red Phenotypes Hypotrichosis-lymphedema-telangiectasia syndrome Tags
Red Red List (low evidence)	SOX9	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category A gene Expert Review Red Phenotypes Campomelic dysplasia, MIM# 114290 Tags
Red Red List (low evidence)	SPARC	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Red Phenotypes Osteogenesis imperfecta, type XVII, MIM# 616507 Tags skeletal
Red Red List (low evidence)	SPEG	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category C gene Expert Review Red Phenotypes Centronuclear myopathy 5, MIM# 615959 Tags
Red Red List (low evidence)	SPINK5	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Red Phenotypes Netherton syndrome MIM# 256500 Tags
Red Red List (low evidence)	SPRED1	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category A gene Expert Review Red Phenotypes Legius syndrome, MIM# 611431 Tags
Red Red List (low evidence)	SPTA1	1 review 1 red	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Red Phenotypes Elliptocytosis-2 MIM# 130600 Pyropoikilocytosis MIM# 266140 Spherocytosis, type 3 MIM# 270970 Tags
Red Red List (low evidence)	SPTB	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category A gene Expert Review Red Phenotypes Anaemia, neonatal haemolytic, fatal or near-fatal MIM# 617948 Tags for review
Red Red List (low evidence)	SPTLC2	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category C gene Expert Review Red Phenotypes Neuropathy, hereditary sensory and autonomic, type IC Tags
Red Red List (low evidence)	SRCAP	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category A gene Expert Review Red Phenotypes Floating-Harbor syndrome MIM#136140 Developmental delay, hypotonia, musculoskeletal defects, and behavioral abnormalities, MIM# 619595 Tags
Red Red List (low evidence)	ST14	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category C gene Expert Review Red Phenotypes Ichthyosis hypotrichosis syndrome Tags
Red Red List (low evidence)	ST3GAL5	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category C gene Expert Review Red Phenotypes Amish infantile epilepsy syndrome Tags
Red Red List (low evidence)	STAC3	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category C gene Expert Review Red Phenotypes Myopathy, congenital, Baily-Bloch, MIM# 255995 Tags
Red Red List (low evidence)	STRA6	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Red Phenotypes Microphthalmia, syndromic 9, MIM# 601186 Tags
Red Red List (low evidence)	STS	1 review 1 red	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources BabySeq Category A gene Expert Review Red Phenotypes Ichthyosis, X-linked, MIM# 308100 Tags
Red Red List (low evidence)	STXBP1	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category A gene Expert Review Red Phenotypes Developmental and epileptic encephalopathy 4, MIM# 612164 Tags
Red Red List (low evidence)	SUCLA2	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Red Phenotypes Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria), MIM# 612073, MONDO:0012791 Tags
Red Red List (low evidence)	SUCLG1	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Red Phenotypes Mitochondrial DNA depletion syndrome 9 (encephalomyopathic type with methylmalonic aciduria) MIM#245400 Tags
Red Red List (low evidence)	SUFU	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Red Phenotypes {Medulloblastoma} MIM#155255 Tags
Red Red List (low evidence)	SURF1	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Red Phenotypes Charcot-Marie-Tooth disease, type 4K MIM#616684 Mitochondrial complex IV deficiency, nuclear type 1 MIM#220110 Tags
Red Red List (low evidence)	SYNE4	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category C gene Expert Review Red Phenotypes Hearing loss Tags
Red Red List (low evidence)	SYT14	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category C gene Expert Review Red Phenotypes Spinocerebellar ataxia, autosomal recessive 11 Tags
Red Red List (low evidence)	TAB2	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category C gene Expert Review Red Phenotypes Congenital heart disease, nonsyndromic Tags
Red Red List (low evidence)	TARDBP	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category C gene Expert Review Red Phenotypes Amyotrophic lateral sclerosis type 10 Tags
Red Red List (low evidence)	TAZ	1 review 1 red	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources BabySeq Category A gene BeginNGS Expert Review Red Phenotypes Barth syndrome, MIM#302060 Tags
Red Red List (low evidence)	TBC1D24	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Red Phenotypes DOORS syndrome MIM#220500 Tags
Red Red List (low evidence)	TBCE	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category C gene Expert Review Red Phenotypes Hypoparathyroidism retardation dysmorphism syndrome Tags
Red Red List (low evidence)	TBX1	2 reviews 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category A gene Expert Review Red Phenotypes DiGeorge syndrome MIM# 188400 Velocardiofacial syndrome MIM# 192430 Tags cardiac immunological
Red Red List (low evidence)	TBX20	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category C gene Expert Review Red Phenotypes Congenital heart disease Tags
Red Red List (low evidence)	TBX5	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category A gene Expert Review Red Phenotypes Holt-Oram syndrome, MIM# 142900 Tags
Red Red List (low evidence)	TCAP	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene BabySeq Category C gene Expert Review Red Phenotypes Cardiomyopathy, dilated Muscular dystrophy, limb-girdle, type 2G Tags
Red Red List (low evidence)	TCOF1	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category A gene Expert Review Red Phenotypes Treacher Collins syndrome 1, MIM# 154500 Tags
Red Red List (low evidence)	TCTN1	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category C gene Expert Review Red Phenotypes Joubert syndrome Tags
Red Red List (low evidence)	TCTN3	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category C gene Expert Review Red Phenotypes Joubert syndrome Tags
Red Red List (low evidence)	TFAP2A	2 reviews 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category A gene Expert Review Red Phenotypes Branchiooculofacial syndrome, MIM 107580 Tags
Red Red List (low evidence)	TFAP2B	2 reviews 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category A gene Expert Review Red Phenotypes Char syndrome, MIM 169100 Tags
Red Red List (low evidence)	TFG	1 review 1 red	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Red Phenotypes Hereditary motor and sensory neuropathy, Okinawa type, MIM# 604484 Spastic paraplegia 57, autosomal recessive, MIM# 615658 Tags
Red Red List (low evidence)	TFR2	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category C gene Expert Review Red Phenotypes Hemochromatosis type 3 Tags
Red Red List (low evidence)	TGFB1	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category C gene Expert Review Red Phenotypes Camurati-Engelmann disease Tags
Red Red List (low evidence)	TGIF1	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category C gene Expert Review Red Phenotypes Holoprosencephaly-4 Tags
Red Red List (low evidence)	TGM1	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Red Phenotypes Ichthyosis, congenital, autosomal recessive 1 (MIM#242300) Tags
Red Red List (low evidence)	TGM5	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Red Phenotypes Peeling skin syndrome 2, MIM# 609796 Tags
Red Red List (low evidence)	THAP11	2 reviews 2 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Red Phenotypes Methylmalonic aciduria, cblC type-like, MIM# 620940 Inborn disorder of cobalamin metabolism and transport, MONDO:0019220, THAP11-related Tags
Red Red List (low evidence)	THBD	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category C gene Expert Review Red Phenotypes Haemolytic uraemic syndrome Tags
Red Red List (low evidence)	THBS1	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category C gene Expert Review Red Phenotypes Pulmonary hypertension Tags
Red Red List (low evidence)	THRB	1 review 1 red	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Red Phenotypes Thyroid hormone resistance, MIM# 188570 Thyroid hormone resistance, autosomal recessive, MIM# 274300 Thyroid hormone resistance, selective pituitary, MIM# 145650 Tags
Red Red List (low evidence)	TIMM8A	1 review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources BabySeq Category A gene Expert Review Red Phenotypes Mohr-Tranebjaerg syndrome MIM#304700 Tags
Red Red List (low evidence)	TJP2	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category C gene Expert Review Red Phenotypes Hypercholanemia, familial Tags
Red Red List (low evidence)	TMC8	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category C gene Expert Review Red Phenotypes Epidermodysplasia verruciformi Tags
Red Red List (low evidence)	TMEM216	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category C gene Expert Review Red Phenotypes Joubert syndrome Meckel syndrome Tags
Red Red List (low evidence)	TMEM237	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category C gene Expert Review Red Phenotypes Joubert syndrome Tags
Red Red List (low evidence)	TMEM43	2 reviews 2 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category A gene Expert Review Red Phenotypes Arrhythmogenic right ventricular dysplasia 5 MIM#604400 Tags cardiac treatable
Red Red List (low evidence)	TMEM67	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Red Phenotypes COACH syndrome MIM#216360 Joubert syndrome MIM#10688 Meckel syndrome MIM#607361 Nephronophthisis MIM#613550 Tags
Red Red List (low evidence)	TMPO	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category C gene Expert Review Red Phenotypes Cardiomyopathy, dilated Tags
Red Red List (low evidence)	TNFAIP3	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Red Phenotypes Autoinflammatory syndrome, familial, Behcet-like 1 MIM#616744 Tags immunological treatable
Red Red List (low evidence)	TNFRSF13B	1 review 1 red	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert list Expert Review Red Phenotypes Immunodeficiency, common variable, 2 MIM#240500 Tags immunological treatable
Red Red List (low evidence)	TNFRSF13C	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Red Phenotypes Immunodeficiency, common variable, 4 MIM#613494 Tags
Red Red List (low evidence)	TNFRSF1A	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Red Phenotypes Periodic fever, familial MIM#142680 Tags
Red Red List (low evidence)	TNNI2	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category A gene Expert Review Red Phenotypes Arthrogryposis, distal, type 2B1 MIM#601680 Tags
Red Red List (low evidence)	TNNT1	2 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Red Phenotypes Nemaline myopathy 5, Amish type MIM#605355 Tags
Red Red List (low evidence)	TNNT3	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category A gene Expert Review Red Phenotypes Arthrogryposis, distal MIM#618435 Tags
Red Red List (low evidence)	TNXB	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category C gene Expert Review Red Phenotypes Ehlers-Danlos syndrome due to tenascin X deficiency Tags
Red Red List (low evidence)	TPM2	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category A gene Expert Review Red Phenotypes Arthrgryposis MIM#108120 Nemaline myopathy MIM#609285 Tags
Red Red List (low evidence)	TPM3	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category A gene Expert Review Red Phenotypes CAP myopathy 1, MIM# 609284 Myopathy, congenital, with fiber-type disproportion, MIM# 255310 Nemaline myopathy 1, autosomal dominant or recessive, MIM# 609284 Tags
Red Red List (low evidence)	TRAC	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Expert Review Red Phenotypes Immunodeficiency 7, TCR-alpha/beta deficient, MIM#615387 Tags founder technically challenging
Red Red List (low evidence)	TRAPPC2	1 review 1 red	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources BabySeq Category A gene Expert Review Red Phenotypes Spondyloepiphyseal dysplasia tarda MIM#313400 Tags
Red Red List (low evidence)	TRH	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category C gene Expert Review Red Phenotypes Thyrotropin-releasing hormone deficiency Tags
Red Red List (low evidence)	TRIM32	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Red Phenotypes Muscular dystrophy, limb-girdle, autosomal recessive 8 MIM#254110 Tags
Red Red List (low evidence)	TRIM37	2 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Red Phenotypes Mulibrey nanism MIM#253250 Tags
Red Red List (low evidence)	TRIP11	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category C gene Expert Review Red Phenotypes Achondrogenesis type 1A Tags
Red Red List (low evidence)	TRPM2	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category C gene Expert Review Red Phenotypes ALS and Parkinson's disease Tags
Red Red List (low evidence)	TSC1	2 reviews 1 green 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category A gene BeginNGS Expert Review Red Phenotypes Tuberous sclerosis 1, MIM#191100 Tags
Red Red List (low evidence)	TSC2	2 reviews 1 green 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category A gene BeginNGS Expert Review Red Phenotypes Tuberous sclerosis 2, MIM#613254 Tags
Red Red List (low evidence)	TSEN54	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Red Phenotypes Pontocerebellar hypoplasia type 2A MIM#277470 Tags
Red Red List (low evidence)	TSFM	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category C gene Expert Review Red Phenotypes Combined oxidative phosphorylation deficiency Tags
Red Red List (low evidence)	TSPEAR	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category C gene Expert Review Red Phenotypes Sensorineural deafness Tags
Red Red List (low evidence)	TSPYL1	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category C gene Expert Review Red Phenotypes Sudden infant death with dysgenesis of the testes syndrome Tags
Red Red List (low evidence)	TSR2	1 review 1 red	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources BeginNGS Expert Review Red Phenotypes Diamond-Blackfan anaemia 14 with mandibulofacial dysostosis, MIM# 300946 Tags
Red Red List (low evidence)	TTC21B	1 review 1 red	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources BabySeq Category C gene Expert Review Red Phenotypes Short-rib thoracic dysplasia 4 with or without polydactyly, MIM# 613819 Nephronophthisis 12, MIM# 613820 Tags
Red Red List (low evidence)	TTC37	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Red Phenotypes Trichohepatoenteric syndrome 1, MIM#222470 Tags
Red Red List (low evidence)	TTC7A	2 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene BeginNGS Expert Review Red Phenotypes Immunodeficiency, combined, with intestinal atresias, MIM#243150 Tags
Red Red List (low evidence)	TTR	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category A gene Expert Review Red Phenotypes Amyloidosis, hereditary, transthyretin-related MIM#105210 Tags
Red Red List (low evidence)	TUBA8	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category C gene Expert Review Red Phenotypes Polymicrogyria with optic nerve hypoplasia Tags
Red Red List (low evidence)	TUBB4B	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Red Phenotypes Leber congenital amaurosis with early-onset deafness MIM#617879 Tags
Red Red List (low evidence)	TWIST1	2 reviews 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category A gene Expert Review Red Phenotypes Craniosynostosis 1, MIM# 123100 Saethre-Chotzen syndrome with or without eyelid anomalies, MIM# 101400 Sweeny-Cox syndrome, MIM# 617746 Robinow-Sorauf syndrome, MIM# 180750 Tags
Red Red List (low evidence)	TWNK	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Red Phenotypes Mitochondrial DNA depletion syndrome 7 (hepatocerebral type) 271245 Tags
Red Red List (low evidence)	TYMP	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Red Phenotypes Mitochondrial DNA depletion syndrome 1 (MNGIE type) MIM#603041 Tags
Red Red List (low evidence)	TYR	2 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Red Phenotypes Oculocutaneous albinism type 1 MIM## 203100, # 606952 Tags
Red Red List (low evidence)	UBA1	0 reviews	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources BabySeq Category C gene Expert Review Red Phenotypes Spinal muscular atrophy, X-linked infantile Tags
Red Red List (low evidence)	UBR1	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Red Phenotypes Johanson-Blizzard syndrome MIM#243800 Tags
Red Red List (low evidence)	UCP2	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category C gene BeginNGS Expert Review Red Phenotypes Hyperinsulinism, ORPHA:276556 Hyperinsulinism Tags
Red Red List (low evidence)	UGT1A4	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category C gene Expert Review Red Phenotypes Crigler-Najjar syndrome Tags
Red Red List (low evidence)	UGT1A5	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category C gene Expert Review Red Phenotypes UDP glucuronosyltransferase deficiency Tags
Red Red List (low evidence)	UMOD	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category A gene Expert Review Red Phenotypes Tubulointerstitial kidney disease MIM#162000 Tags
Red Red List (low evidence)	UQCRB	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category C gene Expert Review Red Phenotypes Mitochondrial complex III deficiency Tags
Red Red List (low evidence)	UQCRQ	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category C gene Expert Review Red Phenotypes Mitochondrial complex III deficiency Tags
Red Red List (low evidence)	UROD	3 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Red Phenotypes Porphyria, hepatoerythropoietic MIM#176100 Tags for review
Red Red List (low evidence)	UTP4	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category C gene Expert Review Red Phenotypes North American Indian childhood cirrhosis Tags
Red Red List (low evidence)	VCAN	2 reviews 1 green 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category A gene Expert Review Red Phenotypes Wagner syndrome MIM#143200 Tags
Red Red List (low evidence)	VCP	2 reviews 2 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category A gene Expert Review Red Phenotypes Inclusion body myopathy with early-onset Paget disease and frontotemporal dementia MIM#167320 Charcot-Marie-Tooth disease, type 2Y, MIM# 616687 Tags
Red Red List (low evidence)	VIPAS39	2 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Red Phenotypes Arthrogryposis, renal dysfunction, and cholestasis MIM#613404 Tags
Red Red List (low evidence)	VLDLR	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Red Phenotypes Cerebellar hypoplasia and mental retardation with or without quadrupedal locomotion MIM#224050 Tags
Red Red List (low evidence)	VPS13A	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Red Phenotypes Choreoacanthocytosis MIM#200150 Tags
Red Red List (low evidence)	VPS13B	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Red Phenotypes Cohen syndrome MIM#216550 Tags
Red Red List (low evidence)	VPS33B	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Red Phenotypes Arthrogryposis, renal dysfunction, and cholestasis MIM#208085 Tags
Red Red List (low evidence)	VPS53	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category C gene Expert Review Red Phenotypes Progressive cerebello-cerebral atrophy Tags
Red Red List (low evidence)	VSX1	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category C gene Expert Review Red Phenotypes Keratoconus Tags
Red Red List (low evidence)	WDR19	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category C gene Expert Review Red Phenotypes Nephronophthisis Tags
Red Red List (low evidence)	WDR35	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category C gene Expert Review Red Phenotypes Cranioectodermal dysplasia Tags
Red Red List (low evidence)	WDR36	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category C gene Expert Review Red Phenotypes Glaucoma Tags
Red Red List (low evidence)	WDR62	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Red Phenotypes Microcephaly 2, primary, autosomal recessive, with or without cortical malformations MIM#604317 Tags
Red Red List (low evidence)	WFS1	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Red Phenotypes Wolfram syndrome MIM#222300 Tags
Red Red List (low evidence)	WNT3	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category C gene Expert Review Red Phenotypes Tetra-amelia, autosomal recessive Tags
Red Red List (low evidence)	WNT5A	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category C gene Expert Review Red Phenotypes Robinow syndrome Tags
Red Red List (low evidence)	WNT7A	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category C gene Expert Review Red Phenotypes Ulna and fibula absence of with severe limb deficiency Tags
Red Red List (low evidence)	WRAP53	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category C gene Expert Review Red Phenotypes Dyskeratosis congenita, autosomal recessive 3, MIM# 613988 Tags
Red Red List (low evidence)	WRN	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Red Phenotypes Werner syndrome MIM#277700 Tags
Red Red List (low evidence)	YARS2	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category C gene Expert Review Red Phenotypes Myopathy, lactic acidosis, and sideroblastic anemia Tags
Red Red List (low evidence)	ZEB2	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category A gene Expert Review Red Phenotypes Mowat-Wilson syndrome MIM# 235730 Tags
Red Red List (low evidence)	ZFPM2	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category C gene Expert Review Red Phenotypes Tetralogy of Fallot Tags
Red Red List (low evidence)	ZIC2	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category A gene Expert Review Red Phenotypes Holoprosencephaly MIM#603073 Tags
Red Red List (low evidence)	ZIC3	1 review 1 red	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources BabySeq Category A gene Expert Review Red Phenotypes X linked heterotaxy and congenital heart defects MIM:306955 Tags
Red Red List (low evidence)	ZMPSTE24	2 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Red Phenotypes Restrictive dermopathy 1, MIM# MIM:275210 Tags
Red Red List (low evidence)	ZNF143	2 reviews 2 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Red Phenotypes Combined methylmalonic acidemia and homocystinuria, cblX like 1 Tags
Red Red List (low evidence)	ZNF252P	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category C gene Expert Review Red Phenotypes Hypothyroidism Tags
Red Red List (low evidence)	ZNF469	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Red Phenotypes Brittle cornea syndrome MIM#229200 Tags
Red Red List (low evidence)	ZNF674	0 reviews	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources BabySeq Category C gene Expert Review Red Phenotypes Mental retardation Tags

BabyScreen+ newborn screening (Version 1.116)

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