Genomic newborn screening: BabyScreen+ (Version 2.0)

List	Entity	Reviews	Mode of inheritance	Details
Filter Entities 724 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)	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)	PROSC	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)	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 Recombinase activating gene 1 deficiency MONDO:0000572 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 Recombinase activating gene 2 deficiency MONDO:0000573 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 tumor 7, MIM# 621332 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	1 review	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)	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	3 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)	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)	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)	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)	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	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category B gene Expert Review Amber Phenotypes Cardiomyopathy, hypertrophic, 10, MIM# 608758 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	1 review 1 red	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	1 review	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)	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	1 review	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)	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)	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)	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)	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)	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)	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)	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)	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)	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)	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)	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)	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)	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)	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)	THBD	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category C gene Expert Review Red Phenotypes Haemolytic uraemic syndrome Tags

Genomic newborn screening: BabyScreen+ (Version 2.0)

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