Aminoacidopathy (Version 1.128)

List	Entity	Reviews	Mode of inheritance	Details
Filter Entities 134 Entitiess
Green Green List (high evidence)	AASS	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources ClinGen Expert Review Green Phenotypes hyperlysinemia MONDO:0009388 Tags
Green Green List (high evidence)	ACAD8	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature NHS GMS Phenotypes isobutyryl-CoA dehydrogenase deficiency MONDO:0012648 Tags
Green Green List (high evidence)	ACADSB	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes 2-methylbutyryl-CoA dehydrogenase deficiency MONDO:0012392 Tags
Green Green List (high evidence)	ACAT1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Victorian Clinical Genetics Services Phenotypes beta-ketothiolase deficiency MONDO:0008760 Tags treatable
Green Green List (high evidence)	ACSF3	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources ClinGen Expert Review Green Phenotypes combined malonic and methylmalonic acidemia MONDO:0013661 Tags
Green Green List (high evidence)	ACY1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources ClinGen Expert Review Green Phenotypes aminoacylase 1 deficiency MONDO:0012368 Tags
Green Green List (high evidence)	ADK	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources ClinGen Expert Review Green Phenotypes adenosine kinase deficiency MONDO:0100255 Tags
Green Green List (high evidence)	AGA	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources ClinGen Expert Review Green Phenotypes Canavan disease MONDO:0010079 Tags
Green Green List (high evidence)	AHCY	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources ClinGen Expert Review Green Phenotypes hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase MONDO:0013404 Tags
Green Green List (high evidence)	ALDH18A1	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources ClinGen Expert Review Green Phenotypes P5CS deficiency MONDO:0100126 Tags
Green Green List (high evidence)	ALDH4A1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources ClinGen Expert Review Green Phenotypes hyperprolinemia type 2 MONDO:0009401 Tags
Green Green List (high evidence)	ALDH6A1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature NHS GMS Phenotypes methylmalonate semialdehyde dehydrogenase deficiency MONDO:0013579 Tags
Green Green List (high evidence)	ALDH7A1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources ClinGen Expert Review Green Phenotypes pyridoxine-dependent epilepsy MONDO:0009945 Tags
Green Green List (high evidence)	AMT	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources ClinGen Expert Review Green Phenotypes glycine encephalopathy MONDO:0011612 Tags
Green Green List (high evidence)	ARG1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources ClinGen Expert Review Green Phenotypes hyperargininemia MONDO:0008814 Tags
Green Green List (high evidence)	ASL	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources ClinGen Expert Review Green Phenotypes argininosuccinic aciduria MONDO:0008815 Tags
Green Green List (high evidence)	ASNS	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources ClinGen Expert Review Green Phenotypes congenital microcephaly - severe encephalopathy - progressive cerebral atrophy syndrome MONDO:0014258 Tags
Green Green List (high evidence)	ASS1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources ClinGen Expert Review Green Phenotypes citrullinemia type I MONDO:0008988 Tags
Green Green List (high evidence)	AUH	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Victorian Clinical Genetics Services Phenotypes 3-methylglutaconic aciduria type 1 MONDO:0009610 Tags
Green Green List (high evidence)	BCAT2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes hypervalinemia and hyperleucine-isoleucinemia MONDO:0100058 Tags
Green Green List (high evidence)	BCKDHA	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes maple syrup urine disease type 1A MONDO:0023691 Tags treatable
Green Green List (high evidence)	BCKDHB	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes maple syrup urine disease type 1B MONDO:0023692 Tags treatable
Green Green List (high evidence)	BCKDK	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes branched-chain keto acid dehydrogenase kinase deficiency MONDO:0013970 Tags treatable
Green Green List (high evidence)	CA5A	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources ClinGen Expert Review Green Phenotypes hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency MONDO:0014332 Tags
Green Green List (high evidence)	CBS	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources ClinGen Expert Review Green Phenotypes classic homocystinuria MONDO:0009352 Tags
Green Green List (high evidence)	CLPB	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Literature Victorian Clinical Genetics Services Phenotypes 3-methylglutaconic aciduria with cataracts, neurologic involvement and neutropenia MONDO:0014561 3-methylglutaconic aciduria, type VIIA, autosomal dominant, MIM# 619835 Tags
Green Green List (high evidence)	CPS1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources ClinGen Expert Review Green Phenotypes carbamoyl phosphate synthetase I deficiency disease MONDO:0009376 Tags
Green Green List (high evidence)	CTH	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources ClinGen Expert Review Green Phenotypes cystathioninuria MONDO:0009058 Tags
Green Green List (high evidence)	DBT	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes maple syrup urine disease MONDO:0009563 Tags treatable
Green Green List (high evidence)	DHTKD1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources ClinGen Expert Review Green Phenotypes 2-aminoadipic 2-oxoadipic aciduria MONDO:0008774 Tags
Green Green List (high evidence)	DLD	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes pyruvate dehydrogenase E3 deficiency MONDO:0009529 Tags
Green Green List (high evidence)	DNAJC12	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources ClinGen Expert Review Green Phenotypes hyperphenylalaninemia due to DNAJC12 deficiency MONDO:0044304 Tags
Green Green List (high evidence)	DNAJC19	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes 3-methylglutaconic aciduria type 5 MONDO:0012435 Tags
Green Green List (high evidence)	FAH	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources ClinGen Expert Review Green Phenotypes tyrosinemia type I MONDO:0010161 Tags
Green Green List (high evidence)	FMO3	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources ClinGen Expert Review Green Phenotypes trimethylaminuria MONDO:0011182 Tags
Green Green List (high evidence)	GAD1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources ClinGen Expert Review Green Phenotypes Developmental and epileptic encephalopathy 89, MIM# 619124 Tags
Green Green List (high evidence)	GAMT	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources ClinGen Expert Review Green Phenotypes guanidinoacetate methyltransferase deficiency MONDO:0012999 Tags
Green Green List (high evidence)	GATM	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources ClinGen Expert Review Green Phenotypes AGAT deficiency MONDO:0012996 Tags
Green Green List (high evidence)	GCDH	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources ClinGen Expert Review Green Phenotypes glutaryl-CoA dehydrogenase deficiency MONDO:0009281 Tags
Green Green List (high evidence)	GCH1	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources ClinGen Expert Review Green Phenotypes GTP cyclohydrolase I deficiency MONDO:0100184 Tags
Green Green List (high evidence)	GCLC	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Other Phenotypes Gamma-glutamylcysteine synthetase deficiency MONDO:0009259 Disorders of glutathione metabolism Tags
Green Green List (high evidence)	GCSH	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources ClinGen Expert Review Green Phenotypes glycine encephalopathy MONDO:0011612 Tags
Green Green List (high evidence)	GLDC	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources ClinGen Expert Review Green Phenotypes glycine encephalopathy MONDO:0011612 Tags
Green Green List (high evidence)	GLS	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources ClinGen Expert Review Green Phenotypes glutaminase deficiency MONDO:0600001 Tags
Green Green List (high evidence)	GLUD1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources ClinGen Expert Review Green Phenotypes hyperinsulinism-hyperammonemia syndrome MONDO:0011717 Tags
Green Green List (high evidence)	GLUL	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources ClinGen Expert Review Green Phenotypes congenital brain dysgenesis due to glutamine synthetase deficiency MONDO:0012393 Tags
Green Green List (high evidence)	GPX4	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Other Phenotypes Spondylometaphyseal dysplasia, Sedaghatian type MONDO:0009593 Disorders of glutathione metabolism Tags
Green Green List (high evidence)	GRHPR	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Other Phenotypes primary hyperoxaluria type 2 MONDO:0009824 Disorders of glyoxylate and oxalate metabolism Tags
Green Green List (high evidence)	GRM6	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Other Phenotypes GRM6-related retinopathy MONDO:0800397 Tags
Green Green List (high evidence)	GSS	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources ClinGen Expert Review Green Phenotypes inherited glutathione synthetase deficiency MONDO:0017909 Tags
Green Green List (high evidence)	HAAO	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources ClinGen Expert Review Green Phenotypes vertebral, cardiac, renal, and limb defects syndrome 1 MONDO:0060554 Tags
Green Green List (high evidence)	HGD	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources ClinGen Expert Review Green Phenotypes alkaptonuria MONDO:0008753 Tags
Green Green List (high evidence)	HIBCH	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Victorian Clinical Genetics Services Phenotypes 3-hydroxyisobutyryl-CoA hydrolase deficiency MONDO:0009603 Tags
Green Green List (high evidence)	HMGCL	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Victorian Clinical Genetics Services Phenotypes 3-hydroxy-3-methylglutaric aciduria MONDO:0009520 Tags treatable
Green Green List (high evidence)	HOGA1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Other Phenotypes primary hyperoxaluria type 3 MONDO:0013327 Disorders of ornithine, proline and hydroxyproline metabolism Tags
Green Green List (high evidence)	HPD	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources ClinGen Expert Review Green Phenotypes tyrosinemia type III MONDO:0010162 hawkinsinuria MONDO:0007700 Tags
Green Green List (high evidence)	IVD	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Victorian Clinical Genetics Services Phenotypes isovaleric acidemia MONDO:0009475 Tags treatable
Green Green List (high evidence)	KYNU	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources ClinGen Expert Review Green Phenotypes vertebral, cardiac, renal, and limb defects syndrome 2 MONDO:0060555 Tags
Green Green List (high evidence)	LMBRD1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources ClinGen Expert Review Green Phenotypes methylmalonic aciduria and homocystinuria type cblF MONDO:0010183 Tags
Green Green List (high evidence)	MAT1A	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources ClinGen Expert Review Green Phenotypes methionine adenosyltransferase deficiency MONDO:0009607 Tags
Green Green List (high evidence)	MCCC1	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature NHS GMS Victorian Clinical Genetics Services Phenotypes 3-methylcrotonyl-CoA carboxylase deficiency MONDO:0018950 Tags
Green Green List (high evidence)	MCCC2	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature NHS GMS Victorian Clinical Genetics Services Phenotypes 3-methylcrotonyl-CoA carboxylase deficiency MONDO:0018950 Tags
Green Green List (high evidence)	MCEE	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources ClinGen Expert Review Green Phenotypes methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency MONDO:0009615 Tags
Green Green List (high evidence)	MMAA	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Victorian Clinical Genetics Services Phenotypes methylmalonic aciduria, cblA type MONDO:0009613 Tags treatable
Green Green List (high evidence)	MMAB	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Victorian Clinical Genetics Services Phenotypes methylmalonic aciduria, cblB type MONDO:0009614 Tags treatable
Green Green List (high evidence)	MMACHC	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources ClinGen Expert Review Green Phenotypes methylmalonic aciduria and homocystinuria type cblC MONDO:0010184 Tags
Green Green List (high evidence)	MMADHC	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature NHS GMS Phenotypes methylmalonic aciduria and homocystinuria type cblD MONDO:0010185 Tags treatable
Green Green List (high evidence)	MTHFR	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources ClinGen Expert Review Green Phenotypes homocystinuria due to methylene tetrahydrofolate reductase deficiency MONDO:0009353 Tags
Green Green List (high evidence)	MTR	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources ClinGen Expert Review Green Phenotypes methylcobalamin deficiency type cblG MONDO:0009609 Tags
Green Green List (high evidence)	MTRR	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources ClinGen Expert Review Green Phenotypes methylcobalamin deficiency type cblE MONDO:0009354 Tags
Green Green List (high evidence)	MUT	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Victorian Clinical Genetics Services Phenotypes methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency MONDO:0009612 Tags
Green Green List (high evidence)	NAGS	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources ClinGen Expert Review Green Phenotypes hyperammonemia due to N-acetylglutamate synthase deficiency MONDO:0009377 Tags
Green Green List (high evidence)	NFE2L2	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Other Phenotypes Immunodeficiency, developmental delay, and hypohomocysteinemia MONDO:0060591 Disorders of glutathione metabolism Tags
Green Green List (high evidence)	OAT	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources ClinGen Expert Review Green Phenotypes ornithine aminotransferase deficiency MONDO:0009796 Tags
Green Green List (high evidence)	OPA3	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Victorian Clinical Genetics Services Phenotypes 3-methylglutaconic aciduria type 3 MONDO:0009787 Tags
Green Green List (high evidence)	OTC	1 review 1 green	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert Review Green Other Phenotypes ornithine carbamoyltransferase deficiency MONDO:0010703 Tags
Green Green List (high evidence)	PAH	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources ClinGen Expert Review Green Phenotypes phenylketonuria MONDO:0009861 Tags
Green Green List (high evidence)	PCBD1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources ClinGen Expert Review Green Phenotypes pterin-4 alpha-carbinolamine dehydratase 1 deficiency MONDO:0009908 Tags
Green Green List (high evidence)	PCCA	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes propionic acidemia MONDO:0011628 Tags treatable
Green Green List (high evidence)	PCCB	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes propionic acidemia MONDO:0011628 Tags treatable
Green Green List (high evidence)	PEPD	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Other Phenotypes Prolidase deficiency MONDO:0008221 Tags
Green Green List (high evidence)	PHGDH	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources ClinGen Expert Review Green Phenotypes neurometabolic disorder due to serine deficiency MONDO:0018162 Tags
Green Green List (high evidence)	PRODH	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources ClinGen Expert Review Green Phenotypes hyperprolinemia type 1 MONDO:0009400 Tags
Green Green List (high evidence)	PSAT1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources ClinGen Expert Review Green Phenotypes neurometabolic disorder due to serine deficiency MONDO:0018162 Tags
Green Green List (high evidence)	PSPH	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources ClinGen Expert Review Green Phenotypes neurometabolic disorder due to serine deficiency MONDO:0018162 Tags
Green Green List (high evidence)	PTS	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources ClinGen Expert Review Green Phenotypes BH4-deficient hyperphenylalaninemia A MONDO:0009863 Tags
Green Green List (high evidence)	PYCR1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources ClinGen Expert Review Green Phenotypes autosomal recessive cutis laxa type 2B MONDO:0013051 Tags
Green Green List (high evidence)	PYCR2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Other Phenotypes Hypomyelinating leukodystrophy 10 MONDO:0014632 Disorders of ornithine, proline and hydroxyproline metabolism Tags
Green Green List (high evidence)	QDPR	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources ClinGen Expert Review Green Phenotypes dihydropteridine reductase deficiency MONDO:0009862 Tags
Green Green List (high evidence)	SELENBP1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources ClinGen Expert Review Green Phenotypes extraoral halitosis due to methanethiol oxidase deficiency MONDO:0029144 Tags
Green Green List (high evidence)	SERAC1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome MONDO:0013875 Tags
Green Green List (high evidence)	SHMT2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources ClinGen Expert Review Green Phenotypes neurodevelopmental disorder with cardiomyopathy, spasticity, and brain abnormalities MONDO:0030866 Tags
Green Green List (high evidence)	SLC1A2	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources ClinGen Expert Review Green Phenotypes developmental and epileptic encephalopathy, 41 MONDO:0014916 Tags
Green Green List (high evidence)	SLC1A3	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources ClinGen Expert Review Green Phenotypes episodic ataxia type 6 MONDO:0012982 Tags
Green Green List (high evidence)	SLC1A4	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources ClinGen Expert Review Green Phenotypes spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome MONDO:0014725 Tags
Green Green List (high evidence)	SLC25A13	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources ClinGen Expert Review Green Phenotypes citrin deficiency MONDO:0016602 Tags
Green Green List (high evidence)	SLC25A15	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources ClinGen Expert Review Green Phenotypes ornithine translocase deficiency MONDO:0009393 (HHH Syndrome) Tags
Green Green List (high evidence)	SLC25A22	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Other Phenotypes Developmental and epileptic encephalopathy MONDO:0100062 Tags
Green Green List (high evidence)	SLC38A8	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources ClinGen Expert Review Green Phenotypes foveal hypoplasia - optic nerve decussation defect - anterior segment dysgenesis syndrome MONDO:0012216 Tags
Green Green List (high evidence)	SLC3A1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources ClinGen Expert Review Green Phenotypes cystinuria MONDO:0009067 Tags
Green Green List (high evidence)	SLC6A19	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources ClinGen Expert Review Green Phenotypes Hartnup disease MONDO:0009324 Tags
Green Green List (high evidence)	SLC6A8	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources ClinGen Expert Review Green Phenotypes creatine transporter deficiency MONDO:0010305 Tags
Green Green List (high evidence)	SLC7A7	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources ClinGen Expert Review Green Phenotypes lysinuric protein intolerance MONDO:0009109 Tags
Green Green List (high evidence)	SLC7A9	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources ClinGen Expert Review Green Phenotypes cystinuria MONDO:0009067 Tags
Green Green List (high evidence)	SPR	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources ClinGen Expert Review Green Phenotypes dopa-responsive dystonia due to sepiapterin reductase deficiency MONDO:0012994 Tags
Green Green List (high evidence)	SUOX	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources ClinGen Expert Review Green Phenotypes isolated sulfite oxidase deficiency MONDO:0010089 Tags
Green Green List (high evidence)	TAT	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources ClinGen Expert Review Green Phenotypes tyrosinemia type II MONDO:0010160 Tags
Green Green List (high evidence)	TAZ	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Literature Victorian Clinical Genetics Services Phenotypes 3-methylglutaconic aciduria MONDO:0017359 Tags
Green Green List (high evidence)	TH	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources ClinGen Expert Review Green Phenotypes tyrosine hydroxylase deficiency MONDO:0100064 Tags
Green Green List (high evidence)	TYR	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources ClinGen Expert Review Green Phenotypes oculocutaneous albinism type 1 MONDO:0018135 Tags
Green Green List (high evidence)	XPNPEP3	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Other Phenotypes Nephronophthisis-like nephropathy 1 MONDO:0013163 Tags
Amber Amber List (moderate evidence)	GSR	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Other Phenotypes Hemolytic anemia due to glutathione reductase deficiency MONDO:0019531 Disorders of glutathione metabolism Tags
Amber Amber List (moderate evidence)	PPM1K	2 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Victorian Clinical Genetics Services Phenotypes Maple syrup urine disease, mild variant MONDO:0014057 Tags
Amber Amber List (moderate evidence)	SLC1A1	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources ClinGen Expert Review Amber Phenotypes dicarboxylic aminoaciduria MONDO:0009110 Tags
Amber Amber List (moderate evidence)	SLC6A6	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources ClinGen Expert Review Amber Phenotypes hypotaurinemic retinal degeneration and cardiomyopathy MONDO:0007777 Tags
Amber Amber List (moderate evidence)	SUGCT	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources ClinGen Expert Review Amber Phenotypes glutaric acidemia type 3 MONDO:0009283 Tags
Amber Amber List (moderate evidence)	UROC1	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources ClinGen Expert Review Amber Phenotypes urocanic aciduria MONDO:0010167 Tags
Red Red List (low evidence)	DMGDH	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources ClinGen Expert Review Red Phenotypes dimethylglycine dehydrogenase deficiency MONDO:0011610 Tags
Red Red List (low evidence)	GNMT	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources ClinGen Expert Review Red Phenotypes glycine N-methyltransferase deficiency MONDO:0011698 Tags
Red Red List (low evidence)	GSTZ1	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources ClinGen Expert Review Red Phenotypes maleylacetoacetate isomerase deficiency MONDO:0060527 Tags
Red Red List (low evidence)	HAL	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources ClinGen Expert Review Red Phenotypes histidinemia MONDO:0009345 Tags
Red Red List (low evidence)	HIBADH	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources ClinGen Expert Review Red Phenotypes 3-hydroxyisobutyric aciduria MONDO:0009371 Tags
Red Red List (low evidence)	HYKK	1 review 1 red	Unknown	Sources ClinGen Expert Review Red Phenotypes inborn disorder of lysine and hydroxylysine metabolism MONDO:0017351 Tags
Red Red List (low evidence)	KMO	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources ClinGen Expert Review Red Phenotypes pellagra MONDO:0019975 Tags
Red Red List (low evidence)	MPST	1 review 1 red	Unknown	Sources ClinGen Expert Review Red Phenotypes encephalopathy due to beta-mercaptolactate-cysteine disulfiduria MONDO:0009585 Tags
Red Red List (low evidence)	NAT8L	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources ClinGen Expert Review Red Phenotypes N-acetylaspartate deficiency MONDO:0013549 Tags
Red Red List (low evidence)	OPLAH	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Other Phenotypes 5-oxoprolinase deficiency MONDO:0009825 Disorders of glutathione metabolism Tags
Red Red List (low evidence)	PHYKPL	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources ClinGen Expert Review Red Phenotypes phosphohydroxylysinuria MONDO:0014008 Tags
Red Red List (low evidence)	PRODH2	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources ClinGen Expert Review Red Phenotypes hydroxyprolinemia MONDO:0009374 Tags
Red Red List (low evidence)	SARDH	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources ClinGen Expert Review Red Phenotypes sarcosinemia MONDO:0010008 Tags
Red Red List (low evidence)	SLC36A2	1 review 1 red	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources ClinGen Expert Review Red Phenotypes iminoglycinuria MONDO:0009448 Tags
Red Red List (low evidence)	SLC6A20	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Other Phenotypes Hyperglycinuria MONDO:0007677 Tags
Red Red List (low evidence)	SLC7A5	1 review 1 red	Unknown	Sources Expert Review Red Other Phenotypes Large neutral amino acid transporter deficiency (MIM#600182) Tags
Red Red List (low evidence)	TDO2	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources ClinGen Expert Review Red Phenotypes familial hypertryptophanemia MONDO:0010907 Tags

Aminoacidopathy (Version 1.128)

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