Newborns main panel (Version 0.508)

List	Entity	Reviews	Mode of inheritance	Details
Filter Entities 878 Entitiess
Green List (high evidence)	AAAS	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Achalasia-addisonianism-alacrimia syndrome Tags
Green List (high evidence)	ABCB11	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Cholestasis, progressive familial intrahepatic 2 Tags
Green List (high evidence)	ABCB4	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Cholestasis, progressive familial intrahepatic 3 Tags
Green List (high evidence)	ABCC6	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Generalized arterial calcification of infancy 2 Tags
Green List (high evidence)	ABCC8	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Hyperinsulinemic hypoglycemia, familial, 1 Tags special_consideration
Green List (high evidence)	ABCD1	1 review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Phenotypes Adrenoleukodystrophy Tags
Green List (high evidence)	ABCD4	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Methylmalonic aciduria and homocystinuria, cblJ type Tags
Green List (high evidence)	ACAD9	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Mitochondrial complex I deficiency, nuclear type 20 Tags
Green List (high evidence)	ACADM	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Medium-chain acyl-CoA dehydrogenase deficiency Tags
Green List (high evidence)	ACADVL	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes VLCAD deficiency Tags special_consideration
Green List (high evidence)	ACAT1	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Alpha-methylacetoacetic aciduria Tags
Green List (high evidence)	ACOX2	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Congenital bile acid synthesis defect type 6 Tags
Green List (high evidence)	ADA	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Severe combined immunodeficiency due to ADA deficiency Tags special_consideration
Green List (high evidence)	ADA2	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Deficiency of ADA2 (DADA2) Tags
Green List (high evidence)	ADAMTS13	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Familial thrombotic thrombocytopenic purpura Tags
Green List (high evidence)	AGL	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Glycogen storage disease type III Tags
Green List (high evidence)	AGPAT2	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Congenital generalized lipodystrophy type 1 Tags
Green List (high evidence)	AGRN	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Myasthenic syndrome, congenital, 8, with pre- and postsynaptic defects Tags special_consideration
Green List (high evidence)	AGXT	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Hyperoxaluria, primary, type 1 Tags
Green List (high evidence)	AICDA	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Immunodeficiency with hyper-IgM, type 2 Tags
Green List (high evidence)	AIRE	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Autoimmune polyendocrinopathy syndrome, type I, with or without reversible metaphyseal dysplasia Tags
Green List (high evidence)	AK2	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Reticular Dysgenesis Tags
Green List (high evidence)	AKR1D1	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Bile acid synthesis defect, congenital, 2 Tags
Green List (high evidence)	ALDH7A1	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Pyridoxine dependent epilepsy Tags
Green List (high evidence)	ALDOB	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Hereditary fructose intolerance Tags
Green List (high evidence)	ALG14	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Myasthenic syndrome, congenital, 15, without tubular aggregates Tags special_consideration
Green List (high evidence)	ALG2	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Congenital myasthenic syndrome-14 Tags special_consideration
Green List (high evidence)	ALPK1	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Phenotypes ROSAH syndrome Tags
Green List (high evidence)	ALPL	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Autosomal recessive hypophosphatasia Tags special_consideration
Green List (high evidence)	AMACR	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Bile acid synthesis defect, congenital, 4 Tags
Green List (high evidence)	AMH	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Persistent Mullerian duct syndrome, type I Tags special_consideration
Green List (high evidence)	AMHR2	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Persistent Mullerian duct syndrome, type II Tags special_consideration
Green List (high evidence)	AMN	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Imerslund-Grasbeck syndrome 2 Tags
Green List (high evidence)	ANOS1	1 review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Phenotypes Hypogonadotropic hypogonadism 1 with or without anosmia (Kallmann syndrome 1) Tags
Green List (high evidence)	AP3B1	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Hermansky-Pudlak syndrome 2 Tags
Green List (high evidence)	AP3D1	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Hermansky-Pudlak syndrome 10 Tags
Green List (high evidence)	APOA5	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes apolipoprotein A-V deficiency Tags
Green List (high evidence)	APOB	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Hypobetalipoproteinaemia Tags special_consideration
Green List (high evidence)	APOC2	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Hyperlipoproteinemia, type Ib Tags
Green List (high evidence)	APRT	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Adenine phosphoribosyltransferase deficiency Tags
Green List (high evidence)	AQP2	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Recessive diabetes insipidus, nephrogenic, 2 Tags special_consideration
Green List (high evidence)	ARG1	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Argininaemia Tags
Green List (high evidence)	ARMC4	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Ciliary dyskinesia, primary, 23 Tags new-gene-name
Green List (high evidence)	ARPC1B	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Platelet abnormalities with eosinophilia and immune-mediated inflammatory disease Tags
Green List (high evidence)	ARSA	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Metachromatic leukodystrophy Tags special_consideration
Green List (high evidence)	ARSB	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Mucopolysaccharidosis Type VI Tags
Green List (high evidence)	ASL	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Argininosuccinic aciduria Tags special_consideration
Green List (high evidence)	ASS1	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Citrullinaemia Tags
Green List (high evidence)	ATP6V0A4	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Distal renal tubular acidosis type 3 with or without sensorineural hearing loss Tags
Green List (high evidence)	ATP6V1B1	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Distal renal tubular acidosis type 2 with progressive sensorineural hearing loss Tags
Green List (high evidence)	ATP7B	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Wilson Disease Tags
Green List (high evidence)	ATP8B1	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Cholestasis, progressive familial intrahepatic 1 Tags
Green List (high evidence)	AVP	2 reviews	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Phenotypes Diabetes insipidus, neurohypophyseal, autosomal dominant Tags special_consideration
Green List (high evidence)	AVPR2	1 review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Phenotypes Diabetes insipidus, nephrogenic, 1 Tags
Green List (high evidence)	BAAT	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Bile acid conjugation defect 1 Tags
Green List (high evidence)	BCKDHA	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Maple syrup urine disease, type Ia Tags
Green List (high evidence)	BCKDHB	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Maple syrup urine disease, type Ib Tags
Green List (high evidence)	BCKDK	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Branched-chain ketoacid dehydrogenase kinase deficiency Tags
Green List (high evidence)	BLNK	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Agammaglobulinaemia 4 Tags
Green List (high evidence)	BMP1	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Osteogenesis imperfecta, type XIII Tags special_consideration
Green List (high evidence)	BSCL2	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Lipodystrophy, congenital generalized, type 2 Tags
Green List (high evidence)	BTD	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Biotinidase deficiency Tags special_consideration
Green List (high evidence)	BTK	1 review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Phenotypes X-linked Agammaglobulinaemia Tags
Green List (high evidence)	C11orf70	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes ciliary dyskinesia, primary, 38 Tags new-gene-name
Green List (high evidence)	C17orf62	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Chronic granulomatous disease 5 Tags new-gene-name
Green List (high evidence)	C2	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes C2 deficiency Tags
Green List (high evidence)	C21orf59	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Ciliary dyskinesia, primary, 26 Tags new-gene-name
Green List (high evidence)	C3	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes C3 deficiency Tags special_consideration
Green List (high evidence)	C5	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes C5 deficiency Tags
Green List (high evidence)	C6	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes C6 deficiency Tags
Green List (high evidence)	C7	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes C7 deficiency Tags
Green List (high evidence)	C8A	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes C8 deficiency, type I Tags
Green List (high evidence)	C8B	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes C8 deficiency, type II Tags
Green List (high evidence)	C9	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes C9 deficiency Tags
Green List (high evidence)	CA2	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Osteopetrosis with renal tubular acidosis Tags
Green List (high evidence)	CA5A	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Hyperammonemia due to carbonic anhydrase VA deficiency Tags
Green List (high evidence)	CAD	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Uridine-responsive epileptic encephalopathy Tags
Green List (high evidence)	CASR	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Neonatal hyperparathyroidism, Autosomal Recessive Tags special_consideration
Green List (high evidence)	CAV1	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Lipodystrophy, congenital generalized, type 3 Tags
Green List (high evidence)	CAVIN1	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Lipodystrophy, congenital generalized, type 4 Tags
Green List (high evidence)	CBS	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Homocystinuria, B6-responsive and nonresponsive types Tags
Green List (high evidence)	CCBE1	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Hennekam lymphangiectasia-lymphedema syndrome 1 Tags
Green List (high evidence)	CCDC103	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Ciliary dyskinesia, primary, 17 Tags new-gene-name
Green List (high evidence)	CCDC114	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes primary ciliary dyskinesia 20 Tags new-gene-name
Green List (high evidence)	CCDC151	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Ciliary dyskinesia, primary, 30 Tags new-gene-name
Green List (high evidence)	CCDC39	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Primary Ciliary Dyskinesia 14 Tags
Green List (high evidence)	CCDC40	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Primary Ciliary Dyskinesia 7 Tags
Green List (high evidence)	CCDC65	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Ciliary dyskinesia, primary, 27 Tags new-gene-name
Green List (high evidence)	CCNO	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes primary ciliary dyskinesia 29 Tags
Green List (high evidence)	CD247	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Immunodeficiency 25, severe combined Tags
Green List (high evidence)	CD3D	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Immunodeficiency 19, severe combined Tags
Green List (high evidence)	CD3E	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Immunodeficiency 18 Tags
Green List (high evidence)	CD3G	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Immunodeficiency 17, CD3 gamma deficient Tags
Green List (high evidence)	CD40	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Immunodeficiency with hyper-IgM, type 3 Tags
Green List (high evidence)	CD40LG	1 review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Phenotypes X-linked immunodeficiency with hyper-IgM type 1 Tags
Green List (high evidence)	CD70	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Lymphoproliferative syndrome 3 Tags
Green List (high evidence)	CD79A	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Agammaglobulinaemia 3 Tags
Green List (high evidence)	CD79B	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Agammaglobulinaemia 6 Tags
Green List (high evidence)	CDCA7	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Immunodeficiency-centromeric instability-facial anomalies syndrome 3 Tags
Green List (high evidence)	CDKN1C	2 reviews	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Phenotypes IMAGE syndrome Tags internal_inclusion_list_only special_consideration
Green List (high evidence)	CEBPE	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Specific granule deficiency 1 Tags
Green List (high evidence)	CFD	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Complement factor D deficiency Tags
Green List (high evidence)	CFH	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Complement factor H deficiency Autosomal recessive Tags special_consideration
Green List (high evidence)	CFI	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Complement factor I deficiency Tags
Green List (high evidence)	CFP	1 review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Phenotypes Properdin deficiency, X-linked Tags
Green List (high evidence)	CFTR	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Cystic fibrosis Tags internal_inclusion_list_only special_consideration
Green List (high evidence)	CHAT	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Congenital myasthenic syndrome-6 Tags special_consideration
Green List (high evidence)	CHRNA1	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Congenital myasthenic syndrome-1, autosomal recessive Tags special_consideration
Green List (high evidence)	CHRNB1	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Congenital myasthenic syndrome-2, autosomal recessive Tags special_consideration
Green List (high evidence)	CHRND	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Congenital myasthenic syndrome-3, autosomal recessive Tags special_consideration
Green List (high evidence)	CHRNE	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Myasthenic syndrome, congenital, 4, autosomal recessive Tags special_consideration
Green List (high evidence)	CIITA	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Bare lymphocyte syndrome, type II, complementation group A Tags
Green List (high evidence)	CLCN7	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Osteopetrosis type 4, autosomal recessive Tags special_consideration
Green List (high evidence)	CLPB	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Phenotypes Neutropenia, severe congenital, 9, autosomal dominant Tags
Green List (high evidence)	COL13A1	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Congenital myasthenic syndrome-19 Tags special_consideration
Green List (high evidence)	COL1A1	2 reviews	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Phenotypes COL1A1 related Osteogenesis Imperfecta Tags special_consideration
Green List (high evidence)	COL1A2	2 reviews	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Phenotypes COL1A2 related Osteogenesis Imperfecta Tags special_consideration
Green List (high evidence)	COL4A3	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes COL4A3 related autosomal recessive Alport Syndrome Tags special_consideration
Green List (high evidence)	COL4A4	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes COL4A4 related autosomal recessive Alport Syndrome Tags special_consideration
Green List (high evidence)	COL4A5	2 reviews	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Phenotypes COL4A5 related X-linked Alport Syndrome Tags special_consideration
Green List (high evidence)	COLQ	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Congenital myasthenic syndrome-5 Tags special_consideration
Green List (high evidence)	COQ2	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes COQ2 related primary coenzyme Q10 deficiency Tags
Green List (high evidence)	COQ4	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes COQ4 related primary coenzyme Q10 deficiency Tags special_consideration
Green List (high evidence)	COQ5	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes COQ5 related primary coenzyme Q10 deficiency Tags
Green List (high evidence)	COQ6	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes COQ6 related primary coenzyme Q10 deficiency Tags
Green List (high evidence)	COQ7	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Coenzyme Q10 deficiency, primary, 8 Tags
Green List (high evidence)	COQ8A	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Coenzyme Q10 deficiency, primary, 4 Tags
Green List (high evidence)	COQ8B	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes COQ8B related primary coenzyme Q10 deficiency with nephrotic syndrome Tags
Green List (high evidence)	COQ9	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Coenzyme Q10 deficiency, primary, 5 Tags
Green List (high evidence)	CORO1A	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Immunodeficiency 8 Tags
Green List (high evidence)	CPS1	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Carbamoyl phosphate synthetase I deficiency Tags
Green List (high evidence)	CPT1A	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Carnitine palmitoyltransferase I deficiency Tags
Green List (high evidence)	CPT2	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Carnitine palmitoyltransferase II deficiency infantile Tags special_consideration
Green List (high evidence)	CSF3R	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Severe congenital neutropenia 7 Tags
Green List (high evidence)	CTNS	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Cystinosis, nephropathic Tags special_consideration
Green List (high evidence)	CTPS1	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Immunodeficiency 24 Tags special_consideration
Green List (high evidence)	CUBN	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Imerslund-Grasbeck syndrome 1 Tags
Green List (high evidence)	CUL3	2 reviews	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Phenotypes Pseudohypoaldosteronism, type IIE Tags internal_inclusion_list_only special_consideration
Green List (high evidence)	CXCR4	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Phenotypes WHIM syndrome Tags
Green List (high evidence)	CYBA	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Chronic granulomatous disease 4 Tags
Green List (high evidence)	CYBB	1 review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Phenotypes Chronic granulomatous disease x-linked Tags
Green List (high evidence)	CYP11A1	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Congenital adrenal insufficiency with 46XY DSD Tags special_consideration
Green List (high evidence)	CYP11B1	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Adrenal hyperplasia, congenital, due to 11-beta-hydroxylase deficiency Tags special_consideration
Green List (high evidence)	CYP11B2	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Hypoaldosteronism, congenital, due to CMO I deficiency Tags
Green List (high evidence)	CYP17A1	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes 17-alpha-hydroxylase/17,20-lyase deficiency Tags special_consideration
Green List (high evidence)	CYP24A1	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Hypercalcemia, infantile, 1 Tags
Green List (high evidence)	CYP27A1	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Cerebrotendinous xanthomatosis Tags
Green List (high evidence)	CYP27B1	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Vitamin D-dependent rickets, type I Tags
Green List (high evidence)	CYP2R1	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Rickets due to defect in vitamin D 25-hydroxylation deficiency Tags
Green List (high evidence)	CYP7B1	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Bile acid synthesis defect, congenital, 3 Tags special_consideration
Green List (high evidence)	DBT	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Maple syrup urine disease, type II Tags
Green List (high evidence)	DCLRE1C	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Severe combined immunodeficiency with sensitivity to ionising radiation Tags special_consideration
Green List (high evidence)	DDB2	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Xeroderma pigmentosum, group E, DDB-negative subtype Tags
Green List (high evidence)	DDC	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Aromatic L-amino acid decarboxylase deficiency Tags
Green List (high evidence)	DGAT1	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Diarrhoea 7, protein-losing enteropathy type Tags
Green List (high evidence)	DHFR	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Megaloblastic anaemia due to dihydrofolate reductase deficiency Tags
Green List (high evidence)	DMP1	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Hypophosphatemic rickets, AR Tags
Green List (high evidence)	DNAAF1	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Ciliary dyskinesia, primary, 13 Tags
Green List (high evidence)	DNAAF2	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Ciliary dyskinesia, primary, 10 Tags
Green List (high evidence)	DNAAF3	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes primary ciliary dyskinesia 2 Tags
Green List (high evidence)	DNAAF4	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Ciliary dyskinesia, primary, 25 Tags
Green List (high evidence)	DNAAF5	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Ciliary dyskinesia, primary, 18 Tags
Green List (high evidence)	DNAH11	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Primary Ciliary Dyskinesia 15 Tags
Green List (high evidence)	DNAH5	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Primary Ciliary Dyskinesia 3 Tags
Green List (high evidence)	DNAH9	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Ciliary dyskinesia, primary, 40 Tags
Green List (high evidence)	DNAI1	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Primary Ciliary Dyskinesia 1 Tags
Green List (high evidence)	DNAI2	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes primary ciliary dyskinesia 9 Tags
Green List (high evidence)	DNAJC12	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Mild non-BH4-deficient hyperphenylalaninemia Tags
Green List (high evidence)	DNAJC21	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes DNAJC21 related Shwachman-Diamond syndrome Tags
Green List (high evidence)	DNAL1	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Ciliary dyskinesia, primary, 16 Tags
Green List (high evidence)	DNMT3B	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Immunodeficiency-centromeric instability-facial anomalies syndrome 1 Tags
Green List (high evidence)	DOCK2	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Immunodeficiency 40 Tags
Green List (high evidence)	DOCK8	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes DOCK8 Deficiency Tags
Green List (high evidence)	DOK7	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Congenital myasthenic syndrome-10 Tags special_consideration
Green List (high evidence)	DPAGT1	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Congenital myasthenic syndrome-13 Tags special_consideration
Green List (high evidence)	DRC1	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Ciliary dyskinesia, primary, 21 Tags
Green List (high evidence)	DUOX2	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Thyroid dyshormonogenesis 6 Tags
Green List (high evidence)	DUOXA2	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Thyroid dyshormonogenesis 5 Tags
Green List (high evidence)	EDA	2 reviews	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Phenotypes Ectodermal dysplasia 1, hypohidrotic, X-linked Tags special_consideration
Green List (high evidence)	EDAR	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive Tags special_consideration
Green List (high evidence)	EDARADD	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Ectodermal dysplasia 11B, hypohidrotic/hair/tooth type, autosomal recessive Tags special_consideration
Green List (high evidence)	EFL1	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Shwachman-Diamond syndrome 2 Tags
Green List (high evidence)	EIF2AK3	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes multiple epiphyseal dysplasia with early onset diabetes mellitus, Wolcott-Rallison syndrome Tags
Green List (high evidence)	ELANE	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Phenotypes Neutropenia, severe congenital 1, autosomal dominant Tags
Green List (high evidence)	ENPP1	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Arterial calcification, generalized, of infancy, 1 Tags
Green List (high evidence)	ERCC2	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Xeroderma pigmentosum, group D Tags special_consideration
Green List (high evidence)	ERCC3	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Xeroderma pigmentosum, group B Tags
Green List (high evidence)	ERCC5	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Xeroderma pigmentosum, group G Tags
Green List (high evidence)	ETFA	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Glutaric acidaemia type IIA Tags
Green List (high evidence)	ETFB	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Glutaric acidaemia type IIB Tags
Green List (high evidence)	ETFDH	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Glutaric acidaemia type IIC Tags
Green List (high evidence)	F10	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Factor X deficiency Tags
Green List (high evidence)	F13A1	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Factor XIIIA deficiency Tags
Green List (high evidence)	F13B	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Factor XIIIB deficiency Tags
Green List (high evidence)	F2	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Congenital Prothrombin deficiency Tags
Green List (high evidence)	F5	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Factor V deficiency Tags
Green List (high evidence)	F7	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Factor VII deficiency Tags special_consideration
Green List (high evidence)	F8	2 reviews	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Phenotypes Haemophilia A Tags special_consideration
Green List (high evidence)	F9	2 reviews	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Phenotypes Haemophilia B Tags special_consideration
Green List (high evidence)	FAH	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Tyrosinemia, type I Tags
Green List (high evidence)	FAM111A	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Phenotypes Kenny-Caffey syndrome, type 2 Tags
Green List (high evidence)	FBP1	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Fructose-1,6-bisphosphatase deficiency Tags
Green List (high evidence)	FCHO1	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Immunodeficiency 76 Tags
Green List (high evidence)	FECH	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Protoporphyria, erythropoietic, 1 Tags special_consideration
Green List (high evidence)	FERMT3	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Leukocyte adhesion deficiency, type III Tags
Green List (high evidence)	FGA	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes FGA related afibrinogenaemia Tags
Green List (high evidence)	FGB	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes FGB related afibrinogenaemia Tags
Green List (high evidence)	FGF23	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Tumoral calcinosis, hyperphosphatemic, familial, 2 Tags special_consideration
Green List (high evidence)	FGG	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes FGG related afibrinogenaemia Tags
Green List (high evidence)	FKBP10	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Osteogenesis imperfecta, type XI Tags special_consideration
Green List (high evidence)	FLAD1	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Lipid storage myopathy due to flavin adenine dinucleotide synthetase deficiency Tags
Green List (high evidence)	FOLR1	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Neurodegeneration due to cerebral folate transport deficiency Tags
Green List (high evidence)	FOXE1	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Bamforth-Lazarus syndrome Tags
Green List (high evidence)	FOXJ1	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Phenotypes ciliary dyskinesia, primary, 43 Tags
Green List (high evidence)	FOXN1	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes T-cell immunodeficiency, congenital alopecia, and nail dystrophy Tags special_consideration
Green List (high evidence)	FOXP3	1 review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Phenotypes X-linked immunodysregulation, polyendocrinopathy, and enteropathy Tags
Green List (high evidence)	G6PC	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Glycogen storage disease type Ia Tags new-gene-name
Green List (high evidence)	G6PC3	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Severe congenital neutropenia 4 Tags
Green List (high evidence)	GAA	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Glycogen storage disease type II Tags special_consideration
Green List (high evidence)	GALE	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Galactose epimerase deficiency Tags
Green List (high evidence)	GALK1	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Galactokinase deficiency with cataracts Tags
Green List (high evidence)	GALNS	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Mucopolysaccharidosis Type IVA Tags
Green List (high evidence)	GALNT3	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Tumoral calcinosis, hyperphosphatemic, familial, 1 Tags
Green List (high evidence)	GALT	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Galactosaemia Tags
Green List (high evidence)	GAMT	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Cerebral creatine deficiency syndrome 2 Tags special_consideration
Green List (high evidence)	GAS8	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Ciliary dyskinesia, primary, 33 Tags new-gene-name
Green List (high evidence)	GATA3	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Phenotypes Hypoparathyroidism, sensorineural deafness, and renal dysplasia Tags
Green List (high evidence)	GATM	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Cerebral creatine deficiency syndrome 3 Tags special_consideration
Green List (high evidence)	GCDH	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Glutaric aciduria, type I Tags
Green List (high evidence)	GCK	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Diabetes mellitus, permanent neonatal 1 Tags special_consideration
Green List (high evidence)	GCM2	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes familial isolated hypoparathyroidism 2, Autosomal Recessive Tags
Green List (high evidence)	GFI1	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Phenotypes Severe congenital neutropenia 2 Tags
Green List (high evidence)	GFPT1	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Congenital myasthenic syndrome-12 Tags special_consideration
Green List (high evidence)	GH1	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Isolated growth hormone deficiency type 1A, autosomal recessive Tags special_consideration
Green List (high evidence)	GHR	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Growth hormone receptor deficiency Tags
Green List (high evidence)	GHRHR	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Isolated growth hormone deficiency type 4 Tags
Green List (high evidence)	GIF	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Intrinsic factor deficiency Tags new-gene-name
Green List (high evidence)	GLIS3	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Diabetes mellitus, neonatal, with congenital hypothyroidism Tags
Green List (high evidence)	GLUD1	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Phenotypes Hyperinsulinism-hyperammonaemia syndrome Tags
Green List (high evidence)	GNRH1	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Hypogonadotropic hypogonadism 12 with or without anosmia Tags
Green List (high evidence)	GP1BA	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Bernard-Soulier syndrome, type A1 (recessive) Tags special_consideration
Green List (high evidence)	GP1BB	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Bernard-Soulier syndrome, type B Tags special_consideration
Green List (high evidence)	GP9	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Bernard-Soulier syndrome, type C Tags special_consideration
Green List (high evidence)	GPIHBP1	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Hyperlipoproteinemia, type 1D Tags
Green List (high evidence)	GPR101	2 reviews	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert Review Green Phenotypes Growth hormone-secreting pituitary adenoma-2 Tags gene-duplication special_consideration
Green List (high evidence)	GRHPR	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Hyperoxaluria, primary, type II Tags
Green List (high evidence)	GUSB	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Mucopolysaccharidosis type VII Tags
Green List (high evidence)	HADH	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Familial hyperinsulinemic hypoglycemia-4 Tags
Green List (high evidence)	HADHA	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes LCHAD deficiency Tags
Green List (high evidence)	HADHB	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Mitochondrial trifunctional protein deficiency 2 Tags
Green List (high evidence)	HAX1	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Neutropenia, severe congenital 3, autosomal recessive Tags
Green List (high evidence)	HBB	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Beta Thalassaemia Tags special_consideration
Green List (high evidence)	HELLS	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Immunodeficiency-centromeric instability-facial anomalies syndrome 4 Tags
Green List (high evidence)	HESX1	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Pituitary hormone deficiency, combined, 5 Tags
Green List (high evidence)	HK1	2 reviews	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Phenotypes HK1 related hyperinsulinism Tags internal_inclusion_list_only special_consideration
Green List (high evidence)	HLCS	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Holocarboxylase synthetase deficiency Tags
Green List (high evidence)	HMGCL	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes HMG-CoA lyase deficiency Tags
Green List (high evidence)	HMGCS2	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes HMG-CoA synthase-2 deficiency Tags
Green List (high evidence)	HOGA1	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Hyperoxaluria, primary, type III Tags
Green List (high evidence)	HSD11B2	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Apparent mineralocorticoid excess Tags
Green List (high evidence)	HSD3B2	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Adrenal hyperplasia, congenital, due to 3-beta-hydroxysteroid dehydrogenase 2 deficiency Tags special_consideration
Green List (high evidence)	HSD3B7	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Bile acid synthesis defect, congenital, 1 Tags
Green List (high evidence)	HYDIN	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes primary ciliary dyskinesia 5 Tags
Green List (high evidence)	IDS	1 review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Phenotypes Mucopolysaccharidosis Type II Tags
Green List (high evidence)	IDUA	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Mucopolysaccharidosis Type I Tags special_consideration
Green List (high evidence)	IFITM5	2 reviews	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Phenotypes Osteogenesis Imperfecta type V Tags internal_inclusion_list_only special_consideration
Green List (high evidence)	IFNGR1	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Immunodeficiency 27A, mycobacteriosis, autosomal recessive Tags special_consideration
Green List (high evidence)	IFNGR2	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Immunodeficiency 28, mycobacteriosis Tags
Green List (high evidence)	IGF1	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Insulin-like growth factor I deficiency Tags
Green List (high evidence)	IGHM	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Agammaglobulinaemia 1 Tags
Green List (high evidence)	IGLL1	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Agammaglobulinaemia 2 Tags
Green List (high evidence)	IGSF1	1 review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Phenotypes Hypothyroidism, central, and testicular enlargement Tags
Green List (high evidence)	IKBKB	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Immunodeficiency 15B Tags
Green List (high evidence)	IL10	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Interleukin-10 deficiency Tags
Green List (high evidence)	IL10RA	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Inflammatory bowel disease 28 Tags
Green List (high evidence)	IL10RB	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Inflammatory bowel disease 25 Tags
Green List (high evidence)	IL12B	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Immunodeficiency 29, mycobacteriosis Tags
Green List (high evidence)	IL12RB1	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Immunodeficiency 30 Tags
Green List (high evidence)	IL2RA	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Immunodeficiency 41 with lymphoproliferation and autoimmunity Tags
Green List (high evidence)	IL2RB	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Immunodeficiency 63 with lymphoproliferation and autoimmunity Tags
Green List (high evidence)	IL2RG	2 reviews	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Phenotypes SCID X-Linked Tags special_consideration
Green List (high evidence)	IL7R	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Immunodeficiency 104, severe combined Tags special_consideration
Green List (high evidence)	INS	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Autosomal recessive diabetes mellitus, permanent neonatal 4 Tags special_consideration
Green List (high evidence)	IRAK4	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes IRAK4 deficiency Tags
Green List (high evidence)	IRF8	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Immunodeficiency 32B Tags
Green List (high evidence)	IRS4	1 review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Phenotypes Hypothyroidism, congenital, nongoitrous, 9 Tags
Green List (high evidence)	ITCH	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Autoimmune disease, multisystem, with facial dysmorphism Tags
Green List (high evidence)	ITGA2B	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Glanzmann thrombasthenia 1 Tags special_consideration
Green List (high evidence)	ITGB2	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Leukocyte adhesion deficiency, type I Tags
Green List (high evidence)	ITGB3	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Glanzmann thrombasthenia 2 Tags special_consideration
Green List (high evidence)	ITK	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Lymphoproliferative syndrome 1 Tags
Green List (high evidence)	IVD	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Isovaleric acidaemia Tags
Green List (high evidence)	IYD	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Thyroid dyshormonogenesis 4 Tags
Green List (high evidence)	JAGN1	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Severe congenital neutropenia 6 Tags
Green List (high evidence)	JAK3	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes JAK3 related T cell-negative, B cell-positive, natural killer cell-negative severe combined immunodeficiency Tags special_consideration
Green List (high evidence)	KCNJ1	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Bartter syndrome, type 2 Tags
Green List (high evidence)	KCNJ11	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Familial hyperinsulinemic hypoglycemia-2, autosomal recessive Tags special_consideration
Green List (high evidence)	KDELR2	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Osteogenesis imperfecta, type XXI Tags special_consideration
Green List (high evidence)	KISS1R	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Hypogonadotropic hypogonadism 8 with or without anosmia Tags
Green List (high evidence)	KLHL3	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Pseudohypoaldosteronism, type IID, autosomal recessive Tags special_consideration
Green List (high evidence)	LAT	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Immunodeficiency 52 Tags
Green List (high evidence)	LCK	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes immunodeficiency 22 Tags
Green List (high evidence)	LCT	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Lactase deficiency, congenital Tags
Green List (high evidence)	LDLR	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Homozygous Familial hypercholesterolaemia-1 Tags special_consideration
Green List (high evidence)	LDLRAP1	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Homozygous Familial hypercholesterolaemia-4 Tags
Green List (high evidence)	LEP	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Leptin deficiency Tags
Green List (high evidence)	LEPR	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Leptin receptor deficiency Tags special_consideration
Green List (high evidence)	LHX3	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Pituitary hormone deficiency, combined, 3 Tags
Green List (high evidence)	LIG1	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes LIG1 associated immunodeficiency Tags
Green List (high evidence)	LIG4	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes LIG4 Syndrome Tags
Green List (high evidence)	LIPA	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Lysosomal acid lipase deficiency Tags internal_inclusion_list_only special_consideration
Green List (high evidence)	LMBRD1	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Methylmalonic aciduria and homocystinuria, cblF type Tags
Green List (high evidence)	LMF1	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Lipase deficiency, combined Tags
Green List (high evidence)	LPIN1	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Myoglobinuria, acute recurrent Tags
Green List (high evidence)	LPL	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Lipoprotein lipase deficiency Tags
Green List (high evidence)	LRP5	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Osteoporosis-pseudoglioma syndrome Tags special_consideration
Green List (high evidence)	LRRC56	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Ciliary dyskinesia, primary, 39 Tags
Green List (high evidence)	LRRC6	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Ciliary dyskinesia, primary, 19 Tags new-gene-name
Green List (high evidence)	LYST	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Chediak-Higashi Syndrome Tags
Green List (high evidence)	MAGT1	2 reviews	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Phenotypes X-linked Immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia Tags special_consideration
Green List (high evidence)	MAN2B1	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Alpha-mannosidosis Tags
Green List (high evidence)	MC2R	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes MC2R familial glucocorticoid deficiency Tags
Green List (high evidence)	MCEE	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Methylmalonyl-CoA epimerase deficiency Tags
Green List (high evidence)	MCIDAS	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes ciliary dyskinesia, primary, 42 Tags
Green List (high evidence)	MCM4	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Immunodeficiency 54 Tags internal_inclusion_list_only special_consideration
Green List (high evidence)	MESD	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Osteogenesis imperfecta, type XX Tags special_consideration
Green List (high evidence)	MMAA	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Methylmalonic aciduria, vitamin B12-responsive, cblA type Tags
Green List (high evidence)	MMAB	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Methylmalonic aciduria, vitamin B12-responsive, cblB type Tags
Green List (high evidence)	MMACHC	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Methylmalonic aciduria and homocystinuria, cblC type Tags
Green List (high evidence)	MMADHC	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Methylmalonic aciduria and homocystinuria, cblD type Tags special_consideration
Green List (high evidence)	MPI	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Mannose Phosphate Isomerase (MPI) - Congenital Disorders of Glycosylation Tags
Green List (high evidence)	MPL	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Congenital amegakaryocytic thrombocytopenia Tags
Green List (high evidence)	MRAP	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes MRAP familial glucocorticoid deficiency type 2 Tags
Green List (high evidence)	MSN	1 review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Phenotypes Immunodeficiency 50 Tags
Green List (high evidence)	MTHFD1	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Combined immunodeficiency and megaloblastic anaemia with or without hyperhomocysteinaemia Tags
Green List (high evidence)	MTHFR	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Homocystinuria due to MTHFR deficiency Tags
Green List (high evidence)	MTR	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Homocystinuria-megaloblastic anaemia, cblG complementation type Tags
Green List (high evidence)	MTRR	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Homocystinuria-megaloblastic anaemia, cbl E type Tags
Green List (high evidence)	MTTP	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Abetalipoproteinaemia Tags
Green List (high evidence)	MUSK	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Congenital myasthenic syndrome-9 Tags special_consideration
Green List (high evidence)	MUT	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Methylmalonic acidemia, mut(0) type Tags new-gene-name
Green List (high evidence)	MYD88	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Immunodeficiency 68 Tags
Green List (high evidence)	MYSM1	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Bone marrow failure syndrome 4 Tags
Green List (high evidence)	NAGS	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes N-acetylglutamate synthase deficiency Tags special_consideration
Green List (high evidence)	NBN	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Nijmegen breakage syndrome Tags
Green List (high evidence)	NCF2	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Chronic granulomatous disease 3 Tags
Green List (high evidence)	NCF4	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Chronic granulomatous disease 2 Tags
Green List (high evidence)	NEUROD1	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes NEUROD1 related autosomal recessive neonatal diabetes Tags
Green List (high evidence)	NEUROG3	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Diarrhoea 4, malabsorptive, congenital Tags
Green List (high evidence)	NFKBIA	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Phenotypes Ectodermal dysplasia and immunodeficiency 2 Tags
Green List (high evidence)	NHEJ1	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Severe combined immunodeficiency with microcephaly, growth retardation, and sensitivity to ionizing radiation Tags
Green List (high evidence)	NLRP3	2 reviews	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Phenotypes Cryopyrin associated periodic fever syndrome Tags internal_inclusion_list_only special_consideration
Green List (high evidence)	NNT	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Glucocorticoid deficiency 4, with or without mineralocorticoid deficiency Tags
Green List (high evidence)	NR0B1	2 reviews	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Phenotypes Adrenal hypoplasia, congenital Tags special_consideration
Green List (high evidence)	NR3C2	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Phenotypes Pseudohypoaldosteronism type I, autosomal dominant Tags
Green List (high evidence)	NR5A1	2 reviews	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Phenotypes NR5A1 associated adrenocortical insufficiency Tags internal_inclusion_list_only special_consideration
Green List (high evidence)	OAS1	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Phenotypes OAS1 related polymorphic autoinflammatory immunodeficiency Tags
Green List (high evidence)	OAT	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Gyrate atrophy of choroid and retina with or without ornithinemia Tags
Green List (high evidence)	OTC	2 reviews	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert Review Green Phenotypes Ornithine transcarbamylase deficiency Tags special_consideration
Green List (high evidence)	OTOF	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Auditory neuropathy, autosomal recessive, 1 Tags special_consideration
Green List (high evidence)	OXCT1	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Succinyl-CoA:3-ketoacid CoA transferase (SCOT) deficiency Tags
Green List (high evidence)	PAH	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes PAH-related disorder Tags special_consideration
Green List (high evidence)	PAX1	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Otofaciocervical syndrome 2 Tags
Green List (high evidence)	PAX8	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Phenotypes Hypothyroidism, congenital, due to thyroid dysgenesis or hypoplasia Tags
Green List (high evidence)	PCCA	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Propionic acidemia 1 Tags
Green List (high evidence)	PCCB	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Propionic acidemia 2 Tags
Green List (high evidence)	PCK1	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Phosphoenolpyruvate carboxykinase deficiency, cytosolic Tags
Green List (high evidence)	PCSK1	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Endocrinopathy due to proprotein convertase 1/3 deficiency Tags
Green List (high evidence)	PDHA1	1 review	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert Review Green Phenotypes Pyruvate dehydrogenase E1-alpha deficiency Tags special_consideration
Green List (high evidence)	PDSS1	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Coenzyme Q10 deficiency, primary, 2 Tags
Green List (high evidence)	PDSS2	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Coenzyme Q10 deficiency, primary, 3 Tags
Green List (high evidence)	PGM1	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Congenital disorder of glycosylation, type It Tags
Green List (high evidence)	PHEX	2 reviews	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert Review Green Phenotypes Hypophosphatemic rickets, X-linked dominant Tags special_consideration
Green List (high evidence)	PHKA2	1 review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Phenotypes Glycogen storage disease, type IXa1 Tags
Green List (high evidence)	PHKG2	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Glycogen storage disease IXc Tags
Green List (high evidence)	PIH1D3	2 reviews 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Phenotypes Ciliary dyskinesia, primary, 36, X-linked Tags new-gene-name
Green List (high evidence)	PIK3R1	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Agammaglobulinaemia 7 Tags
Green List (high evidence)	PKLR	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Pyruvate kinase deficiency Tags
Green List (high evidence)	PLOD2	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Bruck Syndrome 2 Tags
Green List (high evidence)	PLPBP	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Vitamin B6-dependent epilepsy Tags
Green List (high evidence)	PLS3	2 reviews	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Phenotypes Bone mineral density QTL18, osteoporosis Tags
Green List (high evidence)	PNP	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Immunodeficiency due to purine nucleoside phosphorylase deficiency Tags
Green List (high evidence)	PNPO	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Pyridoxamine 5’-phosphate oxidase deficiency Tags
Green List (high evidence)	POLA1	1 review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Phenotypes Pigmentary disorder, reticulate, with systemic manifestations, X-linked Tags
Green List (high evidence)	POLE	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes IMAGE-I syndrome Tags special_consideration
Green List (high evidence)	POLH	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Xeroderma pigmentosum, variant type Tags
Green List (high evidence)	POMC	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Obesity, adrenal insufficiency, and red hair due to POMC deficiency Tags
Green List (high evidence)	POR	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes cytochrome P450 oxidoreductase deficiency Tags special_consideration
Green List (high evidence)	POU1F1	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Pituitary hormone deficiency, combined or isolated, 1, autosomal recessive Tags special_consideration
Green List (high evidence)	PPOX	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Homozygous Variegate Porphyria Tags
Green List (high evidence)	PREPL	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Congenital myasthenic syndrome-22 Tags special_consideration
Green List (high evidence)	PRF1	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Haemophagocytic lymphohistiocytosis, familial, 2 Tags
Green List (high evidence)	PRKDC	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Immunodeficiency 26, with or without neurologic abnormalities Tags
Green List (high evidence)	PROK2	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Hypogonadotropic hypogonadism 4 with or without anosmia Tags
Green List (high evidence)	PROP1	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Combined Pituitary hormone deficiency 2 Tags
Green List (high evidence)	PSTPIP1	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Phenotypes PSTPIP1 associated inflammatory disease Tags
Green List (high evidence)	PTF1A	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Pancreatic agenesis 2 Tags
Green List (high evidence)	PTH	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes familial isolated hypoparathyroidism 1, autosomal recessive Tags
Green List (high evidence)	PTPRC	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Immunodeficiency 105, severe combined Tags
Green List (high evidence)	PTS	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Hyperphenylalaninemia due to 6-pyruvoyl-tetrahydropterin synthase deficiency Tags
Green List (high evidence)	PYGL	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Glycogen storage disease VI Tags
Green List (high evidence)	QDPR	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Hyperphenylalaninemia due to dihydropteridine reductase deficiency Tags
Green List (high evidence)	RAB27A	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Griscelli syndrome, type 2 Tags
Green List (high evidence)	RAG1	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes RAG1 related severe combined immunodeficiency, B cell-negative Tags special_consideration
Green List (high evidence)	RAG2	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes RAG2 related severe combined immunodeficiency, B cell-negative Tags special_consideration
Green List (high evidence)	RAPSN	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Congenital myasthenic syndrome-11 Tags special_consideration
Green List (high evidence)	RASGRP1	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Immunodeficiency 64 Tags
Green List (high evidence)	RB1	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Phenotypes Retinoblastoma Tags
Green List (high evidence)	REST	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Phenotypes Wilms tumour predisposition Tags
Green List (high evidence)	RET	3 reviews	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Phenotypes Multiple endocrine neoplasia II Tags internal_inclusion_list_only special_consideration
Green List (high evidence)	RFX5	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Bare lymphocyte syndrome, type II, complementation group C Tags
Green List (high evidence)	RFXANK	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Bare lymphocyte syndrome, type II, complementation group B Tags
Green List (high evidence)	RFXAP	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Bare lymphocyte syndrome, type II, complementation group D Tags
Green List (high evidence)	RNPC3	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes RNPC3 associated growth hormone deficiency Tags
Green List (high evidence)	RPE65	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes RPE65 associated Leber congenital amaurosis, early-onset severe retinal dystrophy Tags special_consideration
Green List (high evidence)	RPL11	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Phenotypes Diamond-Blackfan anaemia 7 Tags
Green List (high evidence)	RPL15	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Phenotypes Diamond-Blackfan anaemia 12 Tags
Green List (high evidence)	RPL26	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Phenotypes Diamond-Blackfan anaemia 11 Tags
Green List (high evidence)	RPL35A	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Phenotypes Diamond-Blackfan anaemia 5 Tags
Green List (high evidence)	RPL5	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Phenotypes Diamond blackfan anaemia 6 Tags
Green List (high evidence)	RPS10	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Phenotypes Diamond-Blackfan anaemia 9 Tags
Green List (high evidence)	RPS17	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Phenotypes Diamond-Blackfan anaemia 4 Tags
Green List (high evidence)	RPS19	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Phenotypes Diamond blackfan anaemia 1 Tags
Green List (high evidence)	RPS24	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Phenotypes Diamond-blackfan anaemia 3 Tags
Green List (high evidence)	RPS26	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Phenotypes Diamond-Blackfan anaemia 10 Tags
Green List (high evidence)	RPS29	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Phenotypes Diamond-Blackfan anaemia 13 Tags
Green List (high evidence)	RPS7	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Phenotypes Diamond-Blackfan anaemia 8 Tags
Green List (high evidence)	RPSA	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Phenotypes Asplenia, isolated congenital Tags
Green List (high evidence)	RSPH1	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes primary ciliary dyskinesia 24 Tags
Green List (high evidence)	RSPH3	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Ciliary dyskinesia, primary, 32 Tags
Green List (high evidence)	RSPH4A	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes primary ciliary dyskinesia 11 Tags
Green List (high evidence)	RSPH9	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Ciliary dyskinesia, primary, 12 Tags
Green List (high evidence)	SAMD9	2 reviews	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Phenotypes MIRAGE syndrome Tags internal_inclusion_list_only special_consideration
Green List (high evidence)	SAR1B	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Chylomicron retention disease Tags
Green List (high evidence)	SBDS	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Shwachman-Diamond syndrome 1 Tags special_consideration
Green List (high evidence)	SCN4A	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Congenital myasthenic syndrome-16 Tags special_consideration
Green List (high evidence)	SCNN1A	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes SCNN1A related pseudohypoaldosteronism Type 1A Tags
Green List (high evidence)	SCNN1B	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes SCNN1B related pseudohypoaldosteronism Type 1A Tags
Green List (high evidence)	SCNN1G	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes SCNN1G related pseudohypoaldosteronism Type 1A Tags
Green List (high evidence)	SERPINF1	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Osteogenesis imperfecta, type VI Tags special_consideration
Green List (high evidence)	SERPINH1	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Osteogenesis imperfecta, type X Tags special_consideration
Green List (high evidence)	SGPL1	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Nephrotic syndrome, type 14 Tags
Green List (high evidence)	SH2D1A	1 review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Phenotypes X-linked lymphoproliferative syndrome 1 Tags
Green List (high evidence)	SI	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Congenital sucrase-isomaltase deficiency Tags
Green List (high evidence)	SKIV2L	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Trichohepatoenteric syndrome 2 Tags new-gene-name special_consideration
Green List (high evidence)	SLC12A1	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Bartter syndrome, type 1 Tags
Green List (high evidence)	SLC18A3	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Congenital myasthenic syndrome-21 Tags special_consideration
Green List (high evidence)	SLC19A1	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Folate dependent megaloblastic anaemia Tags
Green List (high evidence)	SLC19A2	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Thiamine Repsonsive Megaloblastic Anaemia Syndrome Tags
Green List (high evidence)	SLC19A3	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Biotin- or thiamine-responsive encephalopathy type 2 caused by SLC19A3 thiamine transporter deficiency Tags special_consideration
Green List (high evidence)	SLC22A5	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Primary systemic carnitine deficiency Tags
Green List (high evidence)	SLC25A1	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Congenital myasthenic syndrome-23 Tags special_consideration
Green List (high evidence)	SLC25A13	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Citrullinemia, type II, neonatal-onset Tags
Green List (high evidence)	SLC25A15	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome Tags
Green List (high evidence)	SLC25A20	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Carnitine-acylcarnitine translocase deficiency Tags
Green List (high evidence)	SLC26A7	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Thyroid dyshormonigenesis (no phenotype on OMIM) Tags special_consideration
Green List (high evidence)	SLC2A1	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes GLUT1 deficiency syndrome-1, Autosomal Recessive Tags special_consideration
Green List (high evidence)	SLC30A10	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Hypermanganesaemia with dystonia 1 Tags
Green List (high evidence)	SLC34A1	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Hypercalcemia, infantile, 2 Tags
Green List (high evidence)	SLC34A3	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Hypophosphatemic rickets with hypercalciuria Tags
Green List (high evidence)	SLC37A4	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Glycogen storage disease type Ib and 1c Tags
Green List (high evidence)	SLC39A4	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Acrodermatitis enteropathica Tags
Green List (high evidence)	SLC39A7	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes SLC39A7 associated Agammaglobulinaemia Tags
Green List (high evidence)	SLC46A1	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Hereditary folate malabsorption Tags
Green List (high evidence)	SLC4A1	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Distal renal tubular acidosis type 4 with hemolytic anaemia, autosomal recessive Tags special_consideration
Green List (high evidence)	SLC52A2	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Riboflavin transporter deficiency (Brown-Vialetto-Van Laere syndrome 2) Tags
Green List (high evidence)	SLC52A3	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Riboflavin transporter deficiency (Brown-Vialetto-Van Laere syndrome 1) Tags
Green List (high evidence)	SLC5A1	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Glucose/galactose malabsorption Tags
Green List (high evidence)	SLC5A5	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Thyroid dyshormonigenesis 1 Tags
Green List (high evidence)	SLC5A7	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Congenital myasthenic syndrome-20 Tags special_consideration
Green List (high evidence)	SLC7A7	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Lysinuric protein intolerance Tags
Green List (high evidence)	SMARCD2	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Specific granule deficiency 2 Tags
Green List (high evidence)	SMN1	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Spinal Muscular Atrophy Tags special_caller_only special_consideration
Green List (high evidence)	SNX10	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Osteopetrosis type 8 Tags
Green List (high evidence)	SP110	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Hepatic venoocclusive disease with immunodeficiency Tags
Green List (high evidence)	SPAG1	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Primary Ciliary Dyskinesia 28 Tags
Green List (high evidence)	SPARC	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Osteogenesis imperfecta, type XVII Tags special_consideration
Green List (high evidence)	SPPL2A	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Immunodeficiency 86, mycobacteriosis Tags
Green List (high evidence)	SRP54	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Phenotypes SRP54 related Shwachman-Diamond syndrome Tags
Green List (high evidence)	STAR	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes STAR deficiency (congenital lipoid hyperplasia) Tags special_consideration
Green List (high evidence)	STAT1	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Immunodeficiency 31B Tags
Green List (high evidence)	STAT2	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Immunodeficiency 44 Tags
Green List (high evidence)	STAT3	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Phenotypes Hyper IgE recurrent infection syndrome Tags
Green List (high evidence)	STAT5B	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Growth hormone insensitivity with immune dysregulation 1, autosomal recessive Tags
Green List (high evidence)	STK4	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes STK4 associated T-cell immunodeficiency, recurrent infections, autoimmunity, and cardiac malformations Tags
Green List (high evidence)	STX11	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Haemophagocytic lymphohistiocytosis, familial, 4 Tags
Green List (high evidence)	STXBP2	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Familial haemophagocytic lymphohistiocytosis-5 Tags
Green List (high evidence)	SYT2	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Congenital myasthenic syndrome 7, autosomal recessive Tags special_consideration
Green List (high evidence)	TACR3	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Hypogonadotropic hypogonadism 11 with or without anosmia Tags
Green List (high evidence)	TAP1	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes TAP1 related bare lymphocyte syndrome Tags
Green List (high evidence)	TAP2	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes TAP2 related bare lymphocyte syndrome Tags
Green List (high evidence)	TAPBP	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes MHC class I deficiency 3 Tags
Green List (high evidence)	TAT	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Tyrosinemia, type II Tags
Green List (high evidence)	TAZ	1 review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Phenotypes Barth Syndrome Tags new-gene-name
Green List (high evidence)	TBL1X	1 review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Phenotypes Hypothyroidism, congenital, nongoitrous, 8 Tags
Green List (high evidence)	TBX19	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Adrenocorticotropic hormone deficiency Tags
Green List (high evidence)	TCF3	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Agammaglobulinaemia 8, autosomal recessive Tags special_consideration
Green List (high evidence)	TCIRG1	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Osteopetrosis type 1 Tags
Green List (high evidence)	TCN2	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Transcobalamin II deficiency Tags
Green List (high evidence)	TF	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Atransferrinaemia Tags
Green List (high evidence)	TFRC	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Immunodeficiency 46 Tags
Green List (high evidence)	TG	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Thyroid dyshormonogenesis 3 Tags
Green List (high evidence)	TH	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Dopa-responsive dystonia due to tyrosine hydroxylase deficiency Tags
Green List (high evidence)	THRA	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Phenotypes Resistance to thyroid hormone alpha (OMIM: Hypothyroidism, congenital, nongoitrous, 6) Tags
Green List (high evidence)	THRB	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Thyroid hormone resistance, autosomal recessive Tags special_consideration
Green List (high evidence)	TJP2	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Cholestasis, progressive familial intrahepatic 4 Tags
Green List (high evidence)	TLR3	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Immunodeficiency 83 recessive loss of function Tags
Green List (high evidence)	TMEM38B	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Osteogenesis imperfecta, type XIV Tags special_consideration
Green List (high evidence)	TNFRSF11A	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Osteopetrosis type 7 Tags
Green List (high evidence)	TNFRSF11B	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Paget disease of bone 5, juvenile-onset Tags
Green List (high evidence)	TPK1	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Thiamine Pyrophosphokinase Deficiency Tags
Green List (high evidence)	TPO	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Thyroid dyshormonogenesis 2A Tags
Green List (high evidence)	TRAC	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Immunodeficiency 7 Tags
Green List (high evidence)	TRHR	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Hypothyroidism, congenital, nongoitrous, 7 Tags
Green List (high evidence)	TRIM28	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Phenotypes TRIM28 related Wilms tumour predisposition Tags
Green List (high evidence)	TRPM6	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Hypomagnesemia 1, intestinal Tags
Green List (high evidence)	TSHB	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Hypothyroidism, congenital, nongoitrous 4 Tags
Green List (high evidence)	TSHR	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Hypothyroidism, congenital, nongoitrous, 1 Tags
Green List (high evidence)	TTC25	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes primary ciliary dyskinesia 35 Tags new-gene-name
Green List (high evidence)	TTC37	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Trichohepatoenteric syndrome 1 Tags new-gene-name special_consideration
Green List (high evidence)	TTC7A	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Gastrointestinal defects and immunodeficiency syndrome Tags
Green List (high evidence)	TTPA	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Ataxia with vitamin E deficiency Tags
Green List (high evidence)	UGT1A1	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Crigler-Najjar syndrome Type I Tags
Green List (high evidence)	UMPS	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Orotic aciduria Tags
Green List (high evidence)	UNC13D	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Haemophagocytic lymphohistiocytosis, familial, 3 Tags
Green List (high evidence)	UNG	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Immunodeficiency with hyper IgM, type 5 Tags
Green List (high evidence)	UROD	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Porphyria, hepatoerythropoietic Tags
Green List (high evidence)	UROS	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Congenital erythropoietic porphyria Tags
Green List (high evidence)	USB1	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Poikiloderma with neutropenia Tags
Green List (high evidence)	USP53	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Cholestasis, progressive familial intrahepatic, 7, with or without hearing loss Tags
Green List (high evidence)	VAMP1	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Congenital myasthenic syndrome-25 Tags special_consideration
Green List (high evidence)	VDR	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Rickets, vitamin D-resistant, type IIA Tags special_consideration
Green List (high evidence)	VPS45	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Severe congenital neutropenia 5 Tags
Green List (high evidence)	WAS	1 review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Phenotypes Wiskott Aldrich syndrome Tags
Green List (high evidence)	WNK1	2 reviews	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Phenotypes Pseudohypoaldosteronism, type IIC Tags internal_inclusion_list_only special_consideration
Green List (high evidence)	WNT1	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Osteogenesis imperfecta, type XV Tags special_consideration
Green List (high evidence)	WT1	2 reviews	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Phenotypes Wilms Tumour type 1/ Denys-Drash syndrome Tags special_consideration
Green List (high evidence)	XIAP	1 review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Phenotypes X-Linked inhibitor of apoptosis protein Tags
Green List (high evidence)	XPA	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Xeroderma pigmentosum, group A Tags
Green List (high evidence)	XPC	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Xeroderma pigmentosum, group C Tags
Green List (high evidence)	ZAP70	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Immunodeficiency 48, severe combined Tags
Green List (high evidence)	ZBTB24	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Immunodeficiency-centromeric instability-facial anomalies syndrome 2 Tags
Green List (high evidence)	ZFYVE19	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Cholestasis, progressive familial intrahepatic, 9 Tags
Green List (high evidence)	ZMYND10	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes primary ciliary dyskinesia 22 Tags
Green List (high evidence)	ZNFX1	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Immunodeficiency 91 and hyperinflammation Tags
Amber List (moderate evidence)	ABCC9	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Amber Phenotypes ABCC9 associated hypertrichotic osteochondrodysplasia Tags
Amber List (moderate evidence)	ABCG5	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Phenotypes Sitosterolemia 1 Tags
Amber List (moderate evidence)	ABCG8	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Phenotypes Sitosterolemia 2 Tags
Amber List (moderate evidence)	ACVR1	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Amber Phenotypes Fibrodysplasia ossificans progressiva Tags
Amber List (moderate evidence)	ADAR	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Phenotypes Aicardi-Goutieres syndrome 6, autosomal recessive Tags
Amber List (moderate evidence)	AHCY	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Phenotypes Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase Tags
Amber List (moderate evidence)	AKT2	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Amber Phenotypes Hypoinsulinemic hypoglycemia Tags
Amber List (moderate evidence)	ALAD	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Phenotypes Porphyria, acute hepatic Tags
Amber List (moderate evidence)	ALAS2	1 review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Amber Phenotypes Anemia, sideroblastic, 1 Tags
Amber List (moderate evidence)	ALDH4A1	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Phenotypes Hyperprolinemia, type II Tags
Amber List (moderate evidence)	ALK	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Amber Phenotypes ALK-related neuroblastic tumor susceptibility Tags
Amber List (moderate evidence)	APOE	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Amber Phenotypes Apolipoprotein (apo) E Leu167del variant Tags
Amber List (moderate evidence)	APPL1	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Amber Phenotypes Maturity-onset diabetes of the young, type 14 Tags
Amber List (moderate evidence)	ARMC5	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Amber Phenotypes ACTH-independent macronodular adrenal hyperplasia 2 Tags
Amber List (moderate evidence)	ATP7A	1 review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Amber Phenotypes Menkes disease Tags
Amber List (moderate evidence)	BCL10	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Phenotypes immunodeficiency 37 Tags
Amber List (moderate evidence)	BRCA1	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Phenotypes Fanconi anemia, complementation group S Tags
Amber List (moderate evidence)	BRCA2	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Phenotypes Fanconi anemia, complementation group D1 Tags
Amber List (moderate evidence)	BRIP1	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Phenotypes Fanconi anemia, complementation group J Tags
Amber List (moderate evidence)	BSND	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Phenotypes Bartter syndrome, type 4a Tags
Amber List (moderate evidence)	C1QA	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Phenotypes C1QA associated C1q deficiency Tags
Amber List (moderate evidence)	C1QB	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Phenotypes C1QB associated C1q deficiency Tags
Amber List (moderate evidence)	C1QC	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Phenotypes C1QC associated C1q deficiency Tags
Amber List (moderate evidence)	CA12	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Phenotypes Isolated hyperchlorhidrosis Tags
Amber List (moderate evidence)	CACNA1A	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Amber Phenotypes Episodic ataxia, type 2 Tags
Amber List (moderate evidence)	CACNA1C	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Amber Phenotypes Long QT Syndrome 8 Tags
Amber List (moderate evidence)	CACNA1D	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Amber Phenotypes Primary aldosteronism, seizures, and neurologic abnormalities Tags
Amber List (moderate evidence)	CACNA1H	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Amber Phenotypes Hyperaldosteronism, familial, type IV Tags
Amber List (moderate evidence)	CACNA1S	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Amber Phenotypes Hypokalemic periodic paralysis type 1 Tags
Amber List (moderate evidence)	CALM1	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Amber Phenotypes Long QT Syndrome 14 and Catecholaminergic polymorphic ventricular tachycardia Tags
Amber List (moderate evidence)	CALM2	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Amber Phenotypes Long QT Syndrome 15 and Catecholaminergic polymorphic ventricular tachycardia Tags
Amber List (moderate evidence)	CALM3	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Amber Phenotypes Long QT Syndrome 16 and Catecholaminergic polymorphic ventricular tachycardia Tags
Amber List (moderate evidence)	CARD11	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Phenotypes Immunodeficiency 11A Tags
Amber List (moderate evidence)	CARD14	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Amber Phenotypes Pityriasis rubra pilaris Tags
Amber List (moderate evidence)	CASQ2	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Phenotypes Ventricular tachycardia, catecholaminergic polymorphic, 2 Tags internal_inclusion_list_only
Amber List (moderate evidence)	CD19	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Phenotypes Common variable immune deficiency 3 Tags
Amber List (moderate evidence)	CD27	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Phenotypes Immune dysregulation 2 Tags
Amber List (moderate evidence)	CD320	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Phenotypes Methylmalonic aciduria, transient, due to transcobalamin receptor defect Tags
Amber List (moderate evidence)	CD46	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Phenotypes Hemolytic uremic syndrome, atypical, susceptibility to, 2, autosomal recessive Tags
Amber List (moderate evidence)	CD55	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Phenotypes Complement hyperactivation, angiopathic thrombosis, and protein-losing enteropathy Tags
Amber List (moderate evidence)	CD81	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Phenotypes Common variable immune deficiency 6 Tags
Amber List (moderate evidence)	CEL	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Amber Phenotypes Maturity-onset diabetes of the young, type VIII Tags
Amber List (moderate evidence)	CFB	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Phenotypes Complement factor B deficiency Tags condition_removed special_consideration
Amber List (moderate evidence)	CFHR1	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Amber Phenotypes CFHR1 associated susceptibility to atypical hemolytic uremic syndrome Tags
Amber List (moderate evidence)	CLCN1	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Phenotypes Myotonia congenita, recessive Tags
Amber List (moderate evidence)	CLCN2	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Amber Phenotypes Hyperaldosteronism, familial, type II Tags
Amber List (moderate evidence)	CLCNKB	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Phenotypes Bartter syndrome, type 3 Tags
Amber List (moderate evidence)	COPA	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Amber Phenotypes Autoimmune interstitial lung, joint, and kidney disease Tags
Amber List (moderate evidence)	CP	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Phenotypes Hemosiderosis, systemic, due to aceruloplasminemia Tags
Amber List (moderate evidence)	CPOX	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Amber Phenotypes Coproporphyria Tags
Amber List (moderate evidence)	CR2	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Phenotypes Common variable immune deficiency 7 Tags
Amber List (moderate evidence)	CTLA4	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Amber Phenotypes Immune dysregulation with autoimmunity, immunodeficiency, and lymphoproliferation Tags
Amber List (moderate evidence)	CYB561	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Phenotypes Orthostatic hypotension 2 Tags
Amber List (moderate evidence)	CYP21A2	3 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Phenotypes Congenital adrenal hyperplasia due to 21-hydroxylase deficiency Tags internal_inclusion_list_only special_caller_only
Amber List (moderate evidence)	DBH	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Phenotypes Orthostatic hypotension 1, due to DBH deficiency Tags
Amber List (moderate evidence)	DGKE	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Phenotypes Hemolytic uremic syndrome, atypical, susceptibility to, 7 Tags
Amber List (moderate evidence)	DICER1	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Amber Phenotypes Pleuropulmonary blastoma predisposition syndrome Tags
Amber List (moderate evidence)	DIS3L2	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Phenotypes Perlman syndrome Tags
Amber List (moderate evidence)	DMD	1 review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Amber Phenotypes Duchenne Muscular Dystrophy Tags
Amber List (moderate evidence)	DNASE2	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Phenotypes DNASE2 deficiency Tags
Amber List (moderate evidence)	ECHS1	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Phenotypes Mitochondrial short-chain enoyl-CoA hydratase 1 deficiency Tags
Amber List (moderate evidence)	EIF2S3	1 review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Amber Phenotypes MEHMO syndrome Tags
Amber List (moderate evidence)	ELF4	1 review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Amber Phenotypes Autoinflammatory syndrome, familial, X-linked, Behcet-like 2 Tags
Amber List (moderate evidence)	EPCAM	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Phenotypes Diarrhoea 5, with tufting enteropathy, congenital Tags condition_removed special_consideration
Amber List (moderate evidence)	ERCC4	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Phenotypes Fanconi anemia, complementation group Q Tags
Amber List (moderate evidence)	ERCC6L2	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Phenotypes Bone marrow failure syndrome 2 Tags
Amber List (moderate evidence)	F11	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Phenotypes Factor XI deficiency, autosomal recessive Tags
Amber List (moderate evidence)	FANCA	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Phenotypes Fanconi anemia, complementation group A Tags
Amber List (moderate evidence)	FANCB	1 review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Amber Phenotypes Fanconi anemia, complementation group B Tags
Amber List (moderate evidence)	FANCC	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Phenotypes Fanconi anemia, complementation group C Tags
Amber List (moderate evidence)	FANCD2	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Phenotypes Fanconi anemia, complementation group D2 Tags
Amber List (moderate evidence)	FANCE	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Phenotypes Fanconi anemia, complementation group E Tags
Amber List (moderate evidence)	FANCF	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Phenotypes Fanconi anemia, complementation group F Tags
Amber List (moderate evidence)	FANCG	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Phenotypes Fanconi anemia, complementation group G Tags
Amber List (moderate evidence)	FANCI	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Phenotypes Fanconi anemia, complementation group I Tags
Amber List (moderate evidence)	FANCL	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Phenotypes Fanconi anemia, complementation group L Tags
Amber List (moderate evidence)	FARS2	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Phenotypes Spastic paraplegia 77, autosomal recessive Tags
Amber List (moderate evidence)	FGFR3	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Amber Phenotypes Achondroplasia Tags
Amber List (moderate evidence)	FOXA2	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Amber Phenotypes FOXA2 associated hyperinsulinism and hypopituitarism. No OMIM phenotype. Clingen moderate gene disease association with combined pituitary hormone deficiencies, genetic form Tags
Amber List (moderate evidence)	FOXI1	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Phenotypes FOXI1 associated distal renal tubular acidosis Tags
Amber List (moderate evidence)	FUCA1	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Phenotypes Fucosidosis Tags
Amber List (moderate evidence)	FXN	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Phenotypes Friedreich ataxia Tags
Amber List (moderate evidence)	FXYD2	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Amber Phenotypes Hypomagnesemia 2, renal Tags
Amber List (moderate evidence)	G6PD	1 review	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert Review Amber Phenotypes G6PD deficient hemolytic anemia Tags
Amber List (moderate evidence)	GALC	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Phenotypes Krabbe disease Tags
Amber List (moderate evidence)	GALM	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Phenotypes Galactosemia IV Tags
Amber List (moderate evidence)	GATA1	1 review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Amber Phenotypes GATA1 associated X-Linked Cytopenia Tags
Amber List (moderate evidence)	GATA2	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Amber Phenotypes Immunodeficiency 21 Tags
Amber List (moderate evidence)	GATA4	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Amber Phenotypes Pancreatic agenesis and congenital heart defects (no matching phenotype on OMIM) Tags
Amber List (moderate evidence)	GATA6	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Amber Phenotypes Pancreatic agenesis and congenital heart defects Tags
Amber List (moderate evidence)	GBA	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Phenotypes Gaucher disease Tags new-gene-name
Amber List (moderate evidence)	GCH1	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Phenotypes Dopa-responsive dystonia due to GTP cyclohydrolase 1 deficiency, autosomal recessive Tags
Amber List (moderate evidence)	GGCX	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Phenotypes Vitamin K-dependent clotting factors, combined deficiency of, 1 Tags
Amber List (moderate evidence)	GLA	1 review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Amber Phenotypes Fabry Disease Tags
Amber List (moderate evidence)	GLRA1	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Phenotypes Hyperekplexia 1 autosomal recessive Tags
Amber List (moderate evidence)	GLRB	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Phenotypes Hyperekplexia 2 Tags
Amber List (moderate evidence)	GLRX5	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Phenotypes Anemia, sideroblastic, 3, pyridoxine-refractory Tags
Amber List (moderate evidence)	GNAS	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Amber Phenotypes Pseudohypoparathyroidism Ia Tags
Amber List (moderate evidence)	GNE	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Phenotypes Nonaka myopathy Tags
Amber List (moderate evidence)	GOT2	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Phenotypes Developmental and epileptic encephalopathy 82 Tags
Amber List (moderate evidence)	GRIN2A	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Amber Phenotypes Focal epilepsy and speech disorder Tags
Amber List (moderate evidence)	GYS2	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Phenotypes glycogen storage disease type 0 Tags
Amber List (moderate evidence)	HAMP	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Phenotypes Hemochromatosis, type 2B Tags
Amber List (moderate evidence)	HAVCR2	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Phenotypes Subcutaneous panniculitis-like T cell lymphoma Tags
Amber List (moderate evidence)	HBA1	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Phenotypes Alpha Thalassaemia Tags
Amber List (moderate evidence)	HBA2	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Phenotypes Alpha Thalassaemia Tags
Amber List (moderate evidence)	HCFC1	1 review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Amber Phenotypes Methylmalonic aciduria and homocysteinemia, cblX type Tags
Amber List (moderate evidence)	HFE2	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Phenotypes Hemochromatosis, type 2A Tags new-gene-name
Amber List (moderate evidence)	HGD	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Phenotypes Alkaptonuria Tags
Amber List (moderate evidence)	HIBCH	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Phenotypes 3-hydroxyisobutryl-CoA hydrolase deficiency Tags
Amber List (moderate evidence)	HMBS	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Amber Phenotypes Porphyria, acute intermittent Tags
Amber List (moderate evidence)	HNF1A	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Amber Phenotypes HNF1A associated hyperinsulinism Tags
Amber List (moderate evidence)	HNF1B	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Amber Phenotypes Renal Cysts and Diabetes Syndrome Tags
Amber List (moderate evidence)	HOXA11	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Amber Phenotypes Radioulnar synostosis with amegakaryocytic thrombocytopenia 1 Tags
Amber List (moderate evidence)	HSCB	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Phenotypes Anemia, sideroblastic, 5 Tags
Amber List (moderate evidence)	HSPA9	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Amber Phenotypes Anemia, sideroblastic, 4 Tags
Amber List (moderate evidence)	IARS	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Phenotypes Growth retardation, impaired intellectual development, hypotonia, and hepatopathy Tags new-gene-name
Amber List (moderate evidence)	ICOS	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Phenotypes Common variable immune deficiency 1 Tags
Amber List (moderate evidence)	IER3IP1	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Phenotypes Microcephaly, epilepsy, and diabetes syndrome Tags
Amber List (moderate evidence)	IFIH1	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Amber Phenotypes Aicardi-Goutieres syndrome 7 Tags
Amber List (moderate evidence)	IGFALS	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Phenotypes Acid-labile subunit deficiency Tags
Amber List (moderate evidence)	IKBKG	2 reviews	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Amber Phenotypes Immunodeficiency 33 Tags
Amber List (moderate evidence)	IKZF1	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Amber Phenotypes Common variable immune deficiency 13 Tags
Amber List (moderate evidence)	IL1RN	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Phenotypes Interleukin 1 receptor antagonist deficiency Tags
Amber List (moderate evidence)	IL21	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Phenotypes Common variable immune deficiency 11 Tags
Amber List (moderate evidence)	IL21R	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Phenotypes Immunodeficiency 56 Tags
Amber List (moderate evidence)	IL36RN	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Phenotypes pustular psoriasis-14 Tags
Amber List (moderate evidence)	INSR	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Amber Phenotypes Hyperinsulinemic hypoglycemia, familial, 5 Tags
Amber List (moderate evidence)	IRF2BP2	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Amber Phenotypes Common variable immune deficiency 14 Tags
Amber List (moderate evidence)	JAK1	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Amber Phenotypes Autoinflammation, immune dysregulation, and eosinophilia Tags
Amber List (moderate evidence)	KCNA1	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Amber Phenotypes Episodic ataxia/myokymia syndrome Tags
Amber List (moderate evidence)	KCNE1	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Phenotypes Jervell and Lange-Nielsen syndrome 2 Tags
Amber List (moderate evidence)	KCNH2	2 reviews	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Amber Phenotypes Long QT Syndrome 2 Tags internal_inclusion_list_only
Amber List (moderate evidence)	KCNJ2	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Amber Phenotypes Andersen-Tawil syndrome and Catecholaminergic polymorphic ventricular tachycardia Tags
Amber List (moderate evidence)	KCNJ5	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Amber Phenotypes Hyperaldosteronism, familial, type III Tags
Amber List (moderate evidence)	KCNJ8	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Amber Phenotypes KCNJ8 associated hypertrichotic osteochondrodysplasia Tags
Amber List (moderate evidence)	KCNQ1	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Phenotypes Jervell and Lange-Nielsen syndrome Tags internal_inclusion_list_only
Amber List (moderate evidence)	KCNQ2	3 reviews	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Amber Phenotypes Early infantile epileptic encephalopathy-7 Tags internal_inclusion_list_only
Amber List (moderate evidence)	KCNT1	2 reviews	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Amber Phenotypes Early infantile epileptic encephalopathy-14 Tags
Amber List (moderate evidence)	KDM1A	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Amber Phenotypes KDM1A associated ACTH-independent macronodular adrenal hyperplasia Tags
Amber List (moderate evidence)	KDSR	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Phenotypes Erythrokeratodermia variabilis et progressiva 4 Tags
Amber List (moderate evidence)	LAMTOR2	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Phenotypes MAPBP-interacting protein associated immunodeficiency Tags
Amber List (moderate evidence)	LARS	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Phenotypes Infantile liver failure syndrome 1 Tags new-gene-name
Amber List (moderate evidence)	LHX4	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Amber Phenotypes Pituitary hormone deficiency, combined, 4 Tags
Amber List (moderate evidence)	LMAN1	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Phenotypes Combined factor V and VIII deficiency Tags
Amber List (moderate evidence)	LMNA	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Amber Phenotypes Hutchinson-Gilford progeria syndrome Tags
Amber List (moderate evidence)	LPIN2	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Phenotypes Majeed syndrome Tags
Amber List (moderate evidence)	LRBA	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Phenotypes Immunodeficiency, common variable, 8, with autoimmunity Tags
Amber List (moderate evidence)	LRP4	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Phenotypes Congenital myasthenic syndrome-17 Tags
Amber List (moderate evidence)	LSM11	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Phenotypes Aicardi-Goutieres syndrome 8 Tags
Amber List (moderate evidence)	MAD2L2	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Phenotypes Fanconi anemia, complementation group V Tags
Amber List (moderate evidence)	MAGED2	2 reviews	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Amber Phenotypes Bartter syndrome, type 5, antenatal, transient Tags condition_removed special_consideration
Amber List (moderate evidence)	MALT1	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Phenotypes Immunodeficiency 12 Tags
Amber List (moderate evidence)	MAP3K14	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Phenotypes MAP3K14 associated immunodeficiency Tags
Amber List (moderate evidence)	MARS	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Phenotypes Interstitial lung and liver disease Tags new-gene-name
Amber List (moderate evidence)	MCCC1	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Phenotypes 3-Methylcrotonyl-CoA carboxylase 1 deficiency Tags
Amber List (moderate evidence)	MCCC2	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Phenotypes 3-Methylcrotonyl-CoA carboxylase 2 deficiency Tags
Amber List (moderate evidence)	MCFD2	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Phenotypes Factor V and factor VIII, combined deficiency of Tags
Amber List (moderate evidence)	MECOM	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Amber Phenotypes Radioulnar synostosis with amegakaryocytic thrombocytopenia 2 Tags
Amber List (moderate evidence)	MEFV	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Phenotypes Familial Mediterranean fever, Autosomal recessive Tags internal_inclusion_list_only
Amber List (moderate evidence)	MLH1	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Phenotypes Mismatch repair cancer syndrome 1 Tags
Amber List (moderate evidence)	MLYCD	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Phenotypes Malonyl-CoA decarboxylase deficiency Tags
Amber List (moderate evidence)	MNX1	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Amber Phenotypes Currarino syndrome A syndrome of neonatal diabetes mellitus, developmental delays, sacral agenesis and imperforated anus Tags
Amber List (moderate evidence)	MOCS1	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Phenotypes Molybdenum cofactor deficiency A Tags
Amber List (moderate evidence)	MS4A1	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Phenotypes Common variable immune deficiency 5 Tags
Amber List (moderate evidence)	MSH2	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Phenotypes Mismatch repair cancer syndrome 2 Tags
Amber List (moderate evidence)	MSH6	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Phenotypes Mismatch repair cancer syndrome 3 Tags
Amber List (moderate evidence)	MTHFS	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Phenotypes Neurodevelopmental disorder with microcephaly, epilepsy, and hypomyelination Tags
Amber List (moderate evidence)	MVK	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Phenotypes Hyper-IgD syndrome / mevalonate kinase deficiciency Tags internal_inclusion_list_only
Amber List (moderate evidence)	MYO9A	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Phenotypes Congenital myasthenic syndrome-24 Tags
Amber List (moderate evidence)	NAGLU	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Phenotypes Mucopolysaccharidosis type IIIB (Sanfilippo B) Tags
Amber List (moderate evidence)	NAXD	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Phenotypes early-onset progressive encephalopathy with brain edema and/or leukoencephalopathy 2 Tags
Amber List (moderate evidence)	NAXE	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Phenotypes early-onset progressive encephalopathy with brain edema and/or leukoencephalopathy 1 Tags
Amber List (moderate evidence)	NCF1	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Phenotypes Chronic granulomatous disease 1 Tags
Amber List (moderate evidence)	NFKB1	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Amber Phenotypes Common variable immune deficiency 12 Tags
Amber List (moderate evidence)	NFKB2	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Amber Phenotypes Common variable immune deficiency 10 Tags
Amber List (moderate evidence)	NIPAL4	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Phenotypes Ichthyosis, congenital, autosomal recessive 6 Tags
Amber List (moderate evidence)	NKX2-1	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Amber Phenotypes Choreoathetosis, hypothyroidism, and neonatal respiratory distress Tags
Amber List (moderate evidence)	NKX2-2	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Phenotypes Neonatal diabetes syndromic - No phenotype in OMIM Tags
Amber List (moderate evidence)	NLRC4	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Amber Phenotypes NLRC4 associated familial cold inflammatory syndrome Tags
Amber List (moderate evidence)	NLRP12	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Amber Phenotypes Familial cold autoinflammatory syndrome 2 Tags
Amber List (moderate evidence)	NOD2	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Amber Phenotypes Blau syndrome Tags
Amber List (moderate evidence)	NPC1	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Phenotypes Niemann-Pick disease, type C, NPC1 Tags
Amber List (moderate evidence)	NPC2	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Phenotypes Niemann-Pick disease, type C, NPC2 Tags
Amber List (moderate evidence)	ORAI1	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Phenotypes Immunodeficiency 9 Tags
Amber List (moderate evidence)	OTULIN	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Phenotypes Autoinflammation, panniculitis, and dermatosis syndrome Tags
Amber List (moderate evidence)	PALB2	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Phenotypes Fanconi anemia, complementation group N Tags
Amber List (moderate evidence)	PAPPA2	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Phenotypes PAPPA2 associated short stature Tags
Amber List (moderate evidence)	PCSK9	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Amber Phenotypes Familial hypercholesterolaemia-3 Tags
Amber List (moderate evidence)	PDGFRB	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Amber Phenotypes PDGFRB activating spectrum disorder Tags
Amber List (moderate evidence)	PDX1	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Phenotypes Pancreatic agenesis 1 Tags
Amber List (moderate evidence)	PGM3	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Phenotypes Immunodeficiency 23 Tags
Amber List (moderate evidence)	PHGDH	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Phenotypes Phosphoglycerate dehydrogenase deficiency Tags
Amber List (moderate evidence)	PHKA1	1 review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Amber Phenotypes Muscle glycogenosis Tags
Amber List (moderate evidence)	PHKB	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Phenotypes Phosphorylase kinase deficiency of liver and muscle, autosomal recessive Tags
Amber List (moderate evidence)	PHOX2B	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Amber Phenotypes PHOX2B-related susceptibility to Neuroblastoma and central hypoventilation syndrome Tags
Amber List (moderate evidence)	PIK3CA	2 reviews	Other	Sources Expert Review Amber Phenotypes PIK3CA related overgrowth spectrum Tags
Amber List (moderate evidence)	PIK3CD	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Phenotypes Immunodeficiency 14B Tags
Amber List (moderate evidence)	PLCG2	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Amber Phenotypes Autoinflammation and PLCG2 associated antibody deficiency and immune dysregulation (APLAID) Tags
Amber List (moderate evidence)	PLG	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Phenotypes Plasminogen deficiency, type I Tags condition_removed special_consideration
Amber List (moderate evidence)	PMM2	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Phenotypes Congenital disorder of glycosylation, type Ia Tags
Amber List (moderate evidence)	PMS2	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Phenotypes Mismatch repair cancer syndrome 4 Tags
Amber List (moderate evidence)	POMP	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Amber Phenotypes Proteasome-associated autoinflammatory syndrome 2 Tags
Amber List (moderate evidence)	PRDX1	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Phenotypes Methylmalonic aciduria and homocystinuria, cblC type, digenic Tags
Amber List (moderate evidence)	PRKCD	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Phenotypes Autoimmune lymphoproliferative syndrome, type III Tags
Amber List (moderate evidence)	PROKR2	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Amber Phenotypes Hypogonadotropic hypogonadism 3 with or without anosmia, autosomal dominant Tags
Amber List (moderate evidence)	PRPS1	1 review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Amber Phenotypes Arts syndrome Tags
Amber List (moderate evidence)	PRRT2	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Amber Phenotypes Episodic kinesigenic dyskinesia 1 Tags
Amber List (moderate evidence)	PSAP	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Phenotypes Metachromatic leukodystrophy due to SAP-b deficiency Tags
Amber List (moderate evidence)	PSAT1	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Phenotypes Phosphoserine aminotransferase deficiency Tags
Amber List (moderate evidence)	PSMB10	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Phenotypes Proteasome-associated autoinflammatory syndrome 5 Tags
Amber List (moderate evidence)	PSMB4	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Phenotypes Proteasome-associated autoinflammatory syndrome 3 Tags
Amber List (moderate evidence)	PSMB8	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Phenotypes Proteasome-associated autoinflammatory syndrome 1 Tags
Amber List (moderate evidence)	PSMB9	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Amber Phenotypes PSMB9 associated proteasome-associated autoinflammatory syndrome Tags
Amber List (moderate evidence)	PSMG2	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Phenotypes Proteasome-associated autoinflammatory syndrome 4 Tags
Amber List (moderate evidence)	PSPH	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Phenotypes Phosphoserine phosphatase deficiency Tags
Amber List (moderate evidence)	RAC2	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Phenotypes Immunodeficiency 73C Tags
Amber List (moderate evidence)	RAD51	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Amber Phenotypes Fanconi anemia, complementation group R Tags
Amber List (moderate evidence)	RAD51C	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Phenotypes Fanconi anemia, complementation group O Tags
Amber List (moderate evidence)	REL	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Phenotypes Immunodeficiency 92 Tags
Amber List (moderate evidence)	RELA	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Amber Phenotypes RELA associated chronic mucocutaneous ulceration Tags
Amber List (moderate evidence)	RELB	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Phenotypes Immunodeficiency 53 Tags
Amber List (moderate evidence)	RFWD3	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Phenotypes Fanconi anemia, complementation group W Tags
Amber List (moderate evidence)	RFX6	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Phenotypes Mitchell-Riley Syndrome/neonatal diabetes with pancreatic hypoplasia, intestinal atresia and gallbladder hypoplasia or aplasia Tags
Amber List (moderate evidence)	RMRP	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Phenotypes Cartilege Hair Hypoplasia Tags
Amber List (moderate evidence)	RNASEH2A	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Phenotypes Aicardi-Goutieres syndrome 4 Tags
Amber List (moderate evidence)	RNASEH2B	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Phenotypes Aicardi-Goutieres syndrome 2 Tags
Amber List (moderate evidence)	RNASEH2C	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Phenotypes Aicardi-Goutieres syndrome 3 Tags
Amber List (moderate evidence)	RNU7-1	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Phenotypes Aicardi-Goutieres syndrome 9 Tags
Amber List (moderate evidence)	RPL18	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Amber Phenotypes Diamond-Blackfan anaemia 18 Tags
Amber List (moderate evidence)	RPL27	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Amber Phenotypes Diamond-Blackfan anaemia 16 Tags
Amber List (moderate evidence)	RPL31	2 reviews	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Amber Phenotypes RPL31 associated Diamond-Blackfan anaemia Tags condition_removed special_consideration
Amber List (moderate evidence)	RPL35	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Amber Phenotypes Diamond-Blackfan anaemia 19 Tags
Amber List (moderate evidence)	RPS15A	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Amber Phenotypes Diamond-Blackfan anaemia 20 Tags
Amber List (moderate evidence)	RPS27	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Amber Phenotypes Diamond-Blackfan anaemia 17 Tags
Amber List (moderate evidence)	RPS28	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Amber Phenotypes Diamond Blackfan anaemia 15 with mandibulofacial dysostosis Tags
Amber List (moderate evidence)	RPS9	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Amber Phenotypes RPS9 associated Diamond-Blackfan anaemia Tags
Amber List (moderate evidence)	RYR2	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Amber Phenotypes catecholaminergic polymorphic ventricular tachycardia 1 Tags
Amber List (moderate evidence)	SAMD9L	2 reviews	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Amber Phenotypes Ataxia pancytopaenia syndrome Tags internal_inclusion_list_only
Amber List (moderate evidence)	SAMHD1	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Phenotypes Aicardi-Goutieres syndrome 5 Tags
Amber List (moderate evidence)	SARS	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Phenotypes Neurodevelopmental disorder with microcephaly, ataxia, and seizures Tags new-gene-name
Amber List (moderate evidence)	SCN1A	3 reviews	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Amber Phenotypes Early infantile epileptic encephalopathy-6 Tags internal_inclusion_list_only
Amber List (moderate evidence)	SCN2A	3 reviews	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Amber Phenotypes Early infantile epileptic encephalopathy-11 Tags internal_inclusion_list_only
Amber List (moderate evidence)	SCN3A	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Amber Phenotypes Epilepsy, familial focal, with variable foci 4 Tags
Amber List (moderate evidence)	SCN5A	2 reviews	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Amber Phenotypes Long QT Syndrome 3 Tags internal_inclusion_list_only
Amber List (moderate evidence)	SCN8A	3 reviews	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Amber Phenotypes Early infantile epileptic encephalopathy-13 Tags internal_inclusion_list_only
Amber List (moderate evidence)	SERPINA1	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Phenotypes Alpha-1-antitrypsin deficiency Tags
Amber List (moderate evidence)	SERPING1	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Phenotypes Hereditary angioedema, autosomal recessive Tags condition_removed
Amber List (moderate evidence)	SFTPC	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Amber Phenotypes Surfactant metabolism dysfunction, pulmonary, 2 Tags
Amber List (moderate evidence)	SLC13A5	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Phenotypes Early infantile epileptic encephalopathy-25 Tags
Amber List (moderate evidence)	SLC16A1	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Amber Phenotypes Familial hyperinsulinemic hypoglycemia-7 Tags
Amber List (moderate evidence)	SLC16A2	1 review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Amber Phenotypes Allan-Herndon-Dudley syndrome Tags
Amber List (moderate evidence)	SLC18A2	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Phenotypes Infantile parkinsonism-dystonia-2 Tags
Amber List (moderate evidence)	SLC1A3	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Amber Phenotypes Episodic ataxia, type 6 Tags
Amber List (moderate evidence)	SLC25A38	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Phenotypes Anemia, sideroblastic, 2, pyridoxine-refractory Tags
Amber List (moderate evidence)	SLC26A3	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Phenotypes Diarrhoea 1, secretory chloride, congenital Tags condition_removed special_consideration
Amber List (moderate evidence)	SLC26A4	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Phenotypes Pendred Syndrome Tags
Amber List (moderate evidence)	SLC2A2	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Phenotypes Fanconi-Bickel syndrome Tags
Amber List (moderate evidence)	SLC35A2	1 review	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert Review Amber Phenotypes Congenital disorder of glycosylation, type IIm Tags
Amber List (moderate evidence)	SLC35C1	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Phenotypes Congenital disorder of glycosylation, type IIc Tags
Amber List (moderate evidence)	SLC39A14	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Phenotypes Hypermanganesemia with dystonia 2 Tags
Amber List (moderate evidence)	SLC39A8	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Phenotypes Congenital disorder of glycosylation, type IIn Tags
Amber List (moderate evidence)	SLC40A1	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Amber Phenotypes Hemochromatosis, type 4 Tags
Amber List (moderate evidence)	SLC4A4	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Phenotypes Renal tubular acidosis, proximal, with ocular abnormalities Tags
Amber List (moderate evidence)	SLC5A6	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Phenotypes Sodium-dependent multivitamin transporter deficiency Tags
Amber List (moderate evidence)	SLC6A5	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Phenotypes Hyperekplexia 3 autosomal recessive Tags
Amber List (moderate evidence)	SLC6A6	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Phenotypes Hypotaurinemic retinal degeneration and cardiomyopathy Tags
Amber List (moderate evidence)	SLC6A8	1 review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Amber Phenotypes Cerebral creatine deficiency syndrome 1 Tags
Amber List (moderate evidence)	SLC9A3	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Phenotypes Diarrhoea 8, secretory sodium, congenital Tags condition_removed special_consideration
Amber List (moderate evidence)	SLX4	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Phenotypes Fanconi anemia, complementation group P Tags
Amber List (moderate evidence)	SMARCA4	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Amber Phenotypes Rhabdoid tumour predisposition syndrome Tags
Amber List (moderate evidence)	SMARCB1	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Amber Phenotypes Rhabdoid tumour predisposition syndrome Tags
Amber List (moderate evidence)	SMPD1	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Phenotypes Niemann-Pick disease, type A and type B Tags
Amber List (moderate evidence)	SNAP25	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Amber Phenotypes Congenital myasthenic syndrome-18 Tags
Amber List (moderate evidence)	SORD	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Phenotypes Sorbitol dehydrogenase deficiency with peripheral neuropathy Tags
Amber List (moderate evidence)	SOX3	1 review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Amber Phenotypes Panhypopituitarism, X-linked Tags
Amber List (moderate evidence)	SPINT2	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Phenotypes Diarrhoea 3, secretory sodium, congenital, syndromic Tags condition_removed special_consideration
Amber List (moderate evidence)	SPR	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Phenotypes Dopa-responsive dystonia due to sepiapterin reductase deficiency Tags
Amber List (moderate evidence)	SPTLC1	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Amber Phenotypes Neuropathy, hereditary sensory and autonomic, type IA Tags
Amber List (moderate evidence)	SPTLC2	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Amber Phenotypes Neuropathy, hereditary sensory and autonomic, type IC Tags
Amber List (moderate evidence)	STIM1	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Phenotypes Immunodeficiency 10 Tags
Amber List (moderate evidence)	STX16	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Amber Phenotypes Pseudohypoparathyroidism, type IB Tags
Amber List (moderate evidence)	TECRL	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Phenotypes Ventricular tachycardia, catecholaminergic polymorphic, 3 Tags internal_inclusion_list_only
Amber List (moderate evidence)	TFR2	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Phenotypes Hemochromatosis, type 3 Tags
Amber List (moderate evidence)	THAP11	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Phenotypes No OMIM phenotype Tags
Amber List (moderate evidence)	THBD	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Amber Phenotypes Hemolytic uremic syndrome, atypical, susceptibility to, 6 Tags
Amber List (moderate evidence)	TK2	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Phenotypes Thymidine kinase deficiency Tags
Amber List (moderate evidence)	TMEM165	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Phenotypes Congenital disorder of glycosylation, type IIk Tags
Amber List (moderate evidence)	TNFAIP3	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Amber Phenotypes Familial Behcet-like autoinflammatory syndrome-1 Tags
Amber List (moderate evidence)	TNFRSF13C	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Phenotypes Common variable immune deficiency 4 Tags
Amber List (moderate evidence)	TNFRSF1A	2 reviews	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Amber Phenotypes Tumor necrosis factor receptor associated periodic fever syndrome Tags internal_inclusion_list_only
Amber List (moderate evidence)	TOP2B	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Amber Phenotypes B-cell immunodeficiency, distal limb anomalies, and urogenital malformations Tags
Amber List (moderate evidence)	TP53	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Amber Phenotypes Li Fraumeni Tags
Amber List (moderate evidence)	TPP1	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Phenotypes Ceroid lipofuscinosis, neuronal, 2 Tags condition_removed special_consideration
Amber List (moderate evidence)	TRDN	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Phenotypes Cardiac arrhythmia syndrome, with or without skeletal muscle weakness Tags internal_inclusion_list_only
Amber List (moderate evidence)	TREX1	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Phenotypes Aicardi-Goutieres syndrome 1, autosomal recessive Tags
Amber List (moderate evidence)	TRMU	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Phenotypes Liver failure, transient infantile Tags
Amber List (moderate evidence)	TRNT1	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Phenotypes TRNT1 associated hypogammaglobulinemia Tags
Amber List (moderate evidence)	TSC1	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Amber Phenotypes Tuberous sclerosis-1 Tags
Amber List (moderate evidence)	TSC2	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Amber Phenotypes Tuberous sclerosis-2 Tags
Amber List (moderate evidence)	TSR2	1 review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Amber Phenotypes Diamond-Blackfan anemia 14 with mandibulofacial dysostosis Tags
Amber List (moderate evidence)	TTR	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Amber Phenotypes Transthyretin associated hereditary amyloidosis Tags
Amber List (moderate evidence)	TXNRD2	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Phenotypes Glucocorticoid deficiency 5 Tags
Amber List (moderate evidence)	UBE2T	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Phenotypes Fanconi anemia, complementation group T Tags
Amber List (moderate evidence)	USP18	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Phenotypes Pseudo-TORCH syndrome 2 Tags
Amber List (moderate evidence)	VKORC1	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Phenotypes Vitamin K-dependent clotting factors, combined deficiency of, 2 Tags
Amber List (moderate evidence)	WDR1	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Phenotypes Periodic fever, immunodeficiency, and thrombocytopenia syndrome Tags
Amber List (moderate evidence)	WIPF1	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Phenotypes Wiskott-Aldrich syndrome 2 Tags
Amber List (moderate evidence)	WNK4	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Amber Phenotypes Pseudohypoaldosteronism, type IIB Tags
Amber List (moderate evidence)	XRCC2	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Phenotypes Fanconi anemia, complementation group U Tags
Amber List (moderate evidence)	ZFP57	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Phenotypes Autosomal recessive diabetes mellitus, transient neonatal 1 Tags
Amber List (moderate evidence)	ZNF143	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Phenotypes No OMIM phenotype Tags
Red List (low evidence)	AP2S1	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Red Phenotypes familial hypocalciuric hypercalcemia type III Tags
Red List (low evidence)	APC	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Red Phenotypes Adenomatous polyposis coli Tags
Red List (low evidence)	BMPR1A	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Red Phenotypes Polyposis, juvenile intestinal Tags
Red List (low evidence)	CHD7	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Red Phenotypes CHARGE syndrome Tags
Red List (low evidence)	GNA11	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Red Phenotypes Hypocalcemia, autosomal dominant 2 Tags
Red List (low evidence)	HFE	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Phenotypes Hemochromatosis Tags
Red List (low evidence)	HNF4A	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Red Phenotypes HNF4A associated hyperinsulinism Tags
Red List (low evidence)	KL	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Phenotypes Tumoral calcinosis, hyperphosphatemic, familial, 3 Tags
Red List (low evidence)	KLF11	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Red Phenotypes Maturity-onset diabetes of the young, type VII Tags
Red List (low evidence)	MUTYH	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Phenotypes Adenomas, multiple colorectal Tags
Red List (low evidence)	NF1	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Red Phenotypes Neurofibromatosis type 1 Tags
Red List (low evidence)	PKD1	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Red Phenotypes Polycystic kidney disease 1 Tags
Red List (low evidence)	PKD2	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Red Phenotypes Polycystic kidney disease 2 Tags
Red List (low evidence)	SCARB2	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Phenotypes progressive myoclonic epilepsy 4 Tags
Red List (low evidence)	SLC12A3	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Phenotypes Gitelman syndrome Tags
Red List (low evidence)	SLC30A2	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Red Phenotypes Transient neonatal zinc deficiency Tags
Red List (low evidence)	SMAD4	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Red Phenotypes Polyposis, juvenile intestinal Tags
Red List (low evidence)	TNFRSF13B	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Phenotypes Common variable immune deficiency 2, autosomal recessive Tags
Red List (low evidence)	UCP2	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Red Phenotypes UCP2 associated hyperinsulinism Tags
Red List (low evidence)	WDR72	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Phenotypes WDR72 associated distal renal tubular acidosis Tags
Red List (low evidence)	WFS1	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Phenotypes Wolfram Syndrome 1 Tags

Newborns main panel (Version 0.508)

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