Miscellaneous Metabolic Disorders (Version 2.0)

List	Entity	Reviews	Mode of inheritance	Details
Filter Entities 150 Entitiess
Green Green List (high evidence)	ABCB11	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Victorian Clinical Genetics Services Disease associations Cholestasis, progressive familial intrahepatic 2 MIM#601847 disorder of bile acid metabolism Tags
Green Green List (high evidence)	ABCB4	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Disease associations Progressive familial intrahepatic cholestasis type 3, MONDO:0011214 Tags
Green Green List (high evidence)	ABHD12	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Victorian Clinical Genetics Services Disease associations Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract MIM#612674 disorder of of endocannabinoid metabolism Tags
Green Green List (high evidence)	ABHD5	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Victorian Clinical Genetics Services Disease associations Chanarin-Dorfman syndrome MIM#275630 neutral lipid storage disease with ichthyosis lipid metabolism Tags
Green Green List (high evidence)	ACY1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Disease associations Aminoacylase 1 deficiency MIM#609924 disorder of amino acid metabolism Tags
Green Green List (high evidence)	ADA	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Disease associations Adenosine deaminase deficiency, partial MIM#102700 Severe combined immunodeficiency due to ADA deficiency MIM#102700 disorder of purine metabolism Tags
Green Green List (high evidence)	ADSL	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Disease associations Adenylosuccinase deficiency MIM#103050 disorder of purine metabolism Tags
Green Green List (high evidence)	AHCY	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green NHS GMS Victorian Clinical Genetics Services Disease associations Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase MIM#613752 disorder of methionine metabolism Tags treatable
Green Green List (high evidence)	AKR1D1	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Victorian Clinical Genetics Services Disease associations Bile acid synthesis defect, congenital, 2 MIM#235555 disorder of bile acid metabolism Tags treatable
Green Green List (high evidence)	ALDH18A1	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Disease associations Cutis laxa, autosomal recessive, type IIIA MIM#219150 Spastic paraplegia 9A, autosomal dominant MIM#601162 Spastic paraplegia 9B, autosomal recessive MIM#616586 Cutis laxa, autosomal dominant 3 MIM#616603 disorders of ornithine or proline metabolism Tags
Green Green List (high evidence)	ALDH3A2	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Victorian Clinical Genetics Services Disease associations Sjogren-Larsson syndrome MIM#270200 disorder of lipid metabolism Tags
Green Green List (high evidence)	ALDH4A1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Disease associations Hyperprolinemia, type II MIM#239510 disorders of ornithine or proline metabolism Tags
Green Green List (high evidence)	ALDH5A1	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Victorian Clinical Genetics Services Disease associations Succinic semialdehyde dehydrogenase deficiency MIM#271980 disorder of neurotransmitter metabolism Tags
Green Green List (high evidence)	ALDH6A1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Disease associations Methylmalonate semialdehyde dehydrogenase deficiency MIM#614105 disorder of valine and pyrimidine metabolism Tags
Green Green List (high evidence)	ALDH7A1	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Victorian Clinical Genetics Services Disease associations Epilepsy, pyridoxine-dependent MM#266100 disorder of lysine metabolism Tags treatable
Green Green List (high evidence)	ALDOB	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Expert Review Green Disease associations Fructose intolerance, hereditary, MIM# 229600 Tags
Green Green List (high evidence)	ALPL	2 reviews 2 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Disease associations Hypophosphatasia disorder of bone metabolism Tags
Green Green List (high evidence)	AMT	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Disease associations Glycine encephalopathy MIM#605899 disorder of glycine metabolism Tags
Green Green List (high evidence)	ARG1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Disease associations Argininemia MIM#207800 Urea cycle disorders and inherited hyperammonaemias disorder of arginine metabolism Tags treatable
Green Green List (high evidence)	ASL	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green NHS GMS Victorian Clinical Genetics Services Disease associations Argininosuccinic aciduria MIM#207900 Urea cycle disorders and inherited hyperammonaemias disorder of amino acid metabolism Tags treatable
Green Green List (high evidence)	ASPA	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Disease associations Canavan disease MIM#271900 disorder of amino acid metabolism Tags
Green Green List (high evidence)	ASS1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Disease associations Citrullinemia MIM#215700 Urea cycle disorders and inherited hyperammonaemias disorder of amino acid metabolism Tags treatable
Green Green List (high evidence)	ATIC	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Victorian Clinical Genetics Services Disease associations AICA-ribosiduria due to ATIC deficiency MIM#608688 disorders of purine metabolism Tags
Green Green List (high evidence)	ATP7A	2 reviews 2 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green NHS GMS Disease associations Menkes disease MIM#309400 Occipital horn syndrome MIM#304150 disorder of copper matabolism Tags
Green Green List (high evidence)	ATP8B1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Disease associations Cholestasis, progressive familial intrahepatic 1 MIM#211600 disorder of bile acid metabolism Tags
Green Green List (high evidence)	BAAT	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Disease associations Bile acid conjugation defect 1, MIM# 619232 Hypercholanemia, familial MIM#607748 disorder of bile acid metabolism Tags
Green Green List (high evidence)	BTD	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Disease associations Biotinidase deficiency MIM#253260 disorder of biotin metabolism Tags treatable
Green Green List (high evidence)	CBS	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Disease associations Homocystinuria, B6-responsive and nonresponsive types MIM#236200 disorder of intracellular cobalamin metabolism metabolic disorder of sulfur metabolism Tags treatable
Green Green List (high evidence)	CTSC	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Disease associations Haim-Munk syndrome MIM#245010 Papillon-Lefevre syndrome MIM#245000 other lysosomal disorder Tags
Green Green List (high evidence)	CYP27A1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Disease associations Cerebrotendinous xanthomatosis MIM#213700 Disorders of bile acid biosynthesis Tags
Green Green List (high evidence)	CYP7B1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Disease associations Bile acid synthesis defect, congenital, 3 MIM#613812 Spastic paraplegia 5A, autosomal recessive MIM#270800 Disorders of bile acid biosynthesis Tags
Green Green List (high evidence)	DHCR24	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Disease associations Desmosterolosis, MONDO:0011217 Tags
Green Green List (high evidence)	DHCR7	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Disease associations Smith-Lemli-Opitz syndrome MIM#270400 Disorders of sterol biosynthesis Tags
Green Green List (high evidence)	DHODH	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Disease associations Miller syndrome MIM#263750 Disorders of pyrimidine metabolism Tags
Green Green List (high evidence)	DHTKD1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Disease associations 2-aminoadipic 2-oxoadipic aciduria MONDO:0008774 Tags
Green Green List (high evidence)	DPYD	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Disease associations Dihydropyrimidine dehydrogenase deficiency MIM#274270 5-fluorouracil toxicity MIM#274270 Disorders of pyrimidine metabolism Tags pharmacogenomic
Green Green List (high evidence)	DPYS	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Victorian Clinical Genetics Services Disease associations Dihydropyrimidinuria MIM#222748 Disorders of pyrimidine metabolism Tags
Green Green List (high evidence)	EPG5	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Victorian Clinical Genetics Services Disease associations Vici syndrome MIM#242840 Congenital disorders of autophagy Tags
Green Green List (high evidence)	FDFT1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Expert Review Green Disease associations squalene synthase deficiency MONDO:0032566 Tags
Green Green List (high evidence)	FMO3	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Victorian Clinical Genetics Services Disease associations Trimethylaminuria MIM#602079 Disorders and variants of other enzymes that oxidise xenobiotics Tags
Green Green List (high evidence)	FTCD	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Disease associations Glutamate formiminotransferase deficiency MIM#229100 Disorders of histidine, tryptophan or lysine metabolism Tags
Green Green List (high evidence)	GALE	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Disease associations Galactose epimerase deficiency MIM#230350 Disorders of galactose metabolism Tags treatable
Green Green List (high evidence)	GALK1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Disease associations Galactokinase deficiency with cataracts MIM#230200 Disorders of galactose metabolism Tags treatable
Green Green List (high evidence)	GALM	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature NHS GMS Disease associations Galactosemia IV MIM#618881 Disorders of galactose metabolism Tags
Green Green List (high evidence)	GALT	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Disease associations Galactosemia MIM#230400 Disorders of galactose metabolism Tags treatable
Green Green List (high evidence)	GAMT	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Disease associations Cerebral creatine deficiency syndrome 2 MIM#612736 Disorders of creatinine metabolism Tags treatable
Green Green List (high evidence)	GATM	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Disease associations Cerebral creatine deficiency syndrome 3 MIM#612718 Tags
Green Green List (high evidence)	GCDH	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Disease associations Glutaricaciduria, type I MIM#231670 Organic acidurias Tags treatable
Green Green List (high evidence)	GCLC	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Disease associations Hemolytic anemia due to gamma-glutamylcysteine synthetase deficiency MIM#230450 Disorders of the gamma-glutamyl cycle Tags
Green Green List (high evidence)	GK	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green NHS GMS Disease associations Glycerol kinase deficiency MIM#307030 Disorders of glycerol metabolism Tags
Green Green List (high evidence)	GLDC	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Disease associations Glycine encephalopathy MIM#605899 Disorders of serine, glycine or glycerate metabolism Tags
Green Green List (high evidence)	GLS	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert list Expert Review Green NHS GMS Disease associations Developmental and epileptic encephalopathy 71 MIM#618328 Global developmental delay, progressive ataxia, and elevated glutamine MIM#618412 disorder of amino acid metabolism Tags
Green Green List (high evidence)	GLS_GDPAG_GCA STR	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations Global developmental delay, progressive ataxia, and elevated glutamine MIM#618412 Tags
Green Green List (high evidence)	GLUL	2 reviews 2 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Disease associations Glutamine deficiency, congenital MIM#610015 Developmental and epileptic encephalopathy 116, MIM# 620806 Tags
Green Green List (high evidence)	GLYCTK	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Disease associations D-glyceric aciduria MIM#220120 Disorders of serine, glycine or glycerate metabolism Tags
Green Green List (high evidence)	GNMT	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Disease associations Glycine N-methyltransferase deficiency MIM#606664 Disorders of the metabolism of sulphur amino acids Tags
Green Green List (high evidence)	GPD1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Disease associations Hypertriglyceridemia, transient infantile MIM#614480 glycerol-3-phosphate dehydrogenase deficiency Tags
Green Green List (high evidence)	GPHN	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Disease associations Molybdenum cofactor deficiency C MIM#615501 Disorders of molybdenum cofactor metabolism Tags
Green Green List (high evidence)	GSS	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Disease associations Glutathione synthetase deficiency MIM#266130 Hemolytic anemia due to glutathione synthetase deficiency MIM#231900 Disorders of the gamma-glutamyl cycle Tags
Green Green List (high evidence)	HAAO	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Disease associations Vertebral, cardiac, renal, and limb defects syndrome 1 MIM#617660 NAD deficiency Tags
Green Green List (high evidence)	HGD	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Disease associations Alkaptonuria MIM#203500 Disorders of phenylalanine or tyrosine metabolism Tags
Green Green List (high evidence)	HPD	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Disease associations Hawkinsinuria MIM#140350 Tyrosinemia, type III MIM#276710 Disorders of phenylalanine or tyrosine metabolism Tags
Green Green List (high evidence)	HS2ST1	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Disease associations Neurofacioskeletal syndrome with or without renal agenesis, MIM#619194 Developmental delay and corpus callosum, skeletal, and renal abnormalities disorder of glycosaminoglycan metabolism Tags
Green Green List (high evidence)	HSD3B7	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Disease associations Bile acid synthesis defect, congenital, 1 MIM#607765 Disorders of bile acid biosynthesis Tags
Green Green List (high evidence)	ITPA	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Disease associations Inosine triphosphatase deficiency MIM#613850 Developmental and epileptic encephalopathy 35 MIM#616647 Disorders of purine metabolism Tags
Green Green List (high evidence)	KYNU	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Disease associations Hydroxykynureninuria MIM#236800 Vertebral, cardiac, renal, and limb defects syndrome 2 MIM#617661 Disorders of histidine, tryptophan or lysine metabolism Tags
Green Green List (high evidence)	L2HGDH	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Disease associations L-2-hydroxyglutaric aciduria MIM#236792 organic acidurias Tags
Green Green List (high evidence)	LARS1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Disease associations Infantile liver failure syndrome 1 MIM#615438 disorder of leucine metabolism Tags
Green Green List (high evidence)	LBR	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Disease associations Greenberg skeletal dysplasia MIM#215140 Disorders of sterol biosynthesis Tags
Green Green List (high evidence)	LCT	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Disease associations Lactase deficiency, congenital MIM#223000 Other carbohydrate disorders Tags
Green Green List (high evidence)	LDHD	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations D-lactic aciduria with susceptibility to gout MIM#245450 Tags
Green Green List (high evidence)	MAT1A	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Disease associations Hypermethioninemia, persistent, autosomal dominant, due to methionine adenosyltransferase I/III deficiency MIM#250850 Methionine adenosyltransferase deficiency, autosomal recessive MIM#250850 Disorders of the metabolism of sulphur amino acids Tags
Green Green List (high evidence)	MCCC1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Disease associations 3-Methylcrotonyl-CoA carboxylase 1 deficiency MIM#210200 Organic acidurias Tags
Green Green List (high evidence)	MCCC2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Disease associations 3-Methylcrotonyl-CoA carboxylase 2 deficiency MIM#210210 Organic acidurias Tags
Green Green List (high evidence)	MCEE	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Disease associations Methylmalonyl-CoA epimerase deficiency MIM#251120 Organic acidurias Tags
Green Green List (high evidence)	MOCS1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Disease associations Molybdenum cofactor deficiency A MIM#252150 Disorders of molybdenum cofactor metabolism Tags treatable
Green Green List (high evidence)	MOCS2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Disease associations Molybdenum cofactor deficiency B MIM#252160 Disorders of molybdenum cofactor metabolism Tags
Green Green List (high evidence)	MSMO1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Disease associations Microcephaly, congenital cataract, and psoriasiform dermatitis MIM#616834 Disorders of the metabolism of sterols MONDO:0014793 Tags
Green Green List (high evidence)	MTHFR	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Disease associations Homocystinuria due to MTHFR deficiency MIM#236250 Disorders of folate metabolism and transport Tags
Green Green List (high evidence)	MTRR	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Disease associations Homocystinuria-megaloblastic anemia, cbl E type MIM#236270 Disorders of the metabolism of sulphur amino acids Tags
Green Green List (high evidence)	MVK	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Disease associations Mevalonic aciduria MIM#610377 Disorders of sterol biosynthesis Tags
Green Green List (high evidence)	NSDHL	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 NHS GMS Disease associations CHILD syndrome MIM#308050 Disorders of sterol biosynthesis Tags
Green Green List (high evidence)	NT5C3A	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Disease associations Anemia, hemolytic, due to UMPH1 deficiency MIM#266120 disorder of pyrimidine metabolism Tags
Green Green List (high evidence)	OAT	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Expert Review Green Disease associations Gyrate atrophy of choroid and retina with or without ornithinemia - MIM#258870 Tags
Green Green List (high evidence)	PAH	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Disease associations Phenylketonuria MIM#261600 Disorders of phenylalanine or tyrosine metabolism Tags treatable
Green Green List (high evidence)	PCK1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Disease associations Phosphoenolpyruvate carboxykinase deficiency, cytosolic MIM#261680 Disorders of gluconeogenesis Tags
Green Green List (high evidence)	PDXK	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations Neuropathy, hereditary motor and sensory, type VIC, with optic atrophy MIM#618511 Disorders of pyridoxine metabolism Tags
Green Green List (high evidence)	PEPD	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Disease associations Prolidase deficiency MIM#170100 disorders of peptide metabolism Tags
Green Green List (high evidence)	PHGDH	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Disease associations Neu-Laxova syndrome 1 256520 Phosphoglycerate dehydrogenase deficiency 601815 Tags
Green Green List (high evidence)	PNP	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Disease associations Immunodeficiency due to purine nucleoside phosphorylase deficiency, MIM# 613179 Tags
Green Green List (high evidence)	POR	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Disease associations Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis 201750 Disordered steroidogenesis due to cytochrome P450 oxidoreductase 613571 Tags
Green Green List (high evidence)	PREPL	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations Myasthenic syndrome, congenital, 22 MIM#616224 hypotonia-cystinuria syndrome Disorders of amino acid transport Tags SV/CNV
Green Green List (high evidence)	PRODH	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Disease associations Hyperprolinemia, type I 239500 Proline oxidase deficiency Tags
Green Green List (high evidence)	PRPS1	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Expert Review Green Disease associations Arts syndrome 301835 Charcot-Marie-Tooth disease, X-linked recessive, 5 311070 Deafness, X-linked 1 304500 Gout, PRPS-related 300661 Phosphoribosylpyrophosphate synthetase superactivity 300661 Tags
Green Green List (high evidence)	PSAT1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Disease associations Phosphoserine aminotransferase deficiency MIM#610992 Neu-Laxova syndrome 2 MIM#616038 Tags
Green Green List (high evidence)	PSPH	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Disease associations Phosphoserine phosphatase deficiency MIM#614023 Disorders of serine, glycine or glycerate metabolism Tags
Green Green List (high evidence)	PYCR1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Disease associations Cutis laxa, autosomal recessive, type IIB MIM#612940 Cutis laxa, autosomal recessive, type IIIB MIM#614438 Disorders of ornithine or proline metabolism Tags
Green Green List (high evidence)	RBP4	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Disease associations Microphthalmia, isolated, with coloboma 10, MIM# 616428 Retinal dystrophy, iris coloboma, and comedogenic acne syndrome, MIM# 615147 Tags
Green Green List (high evidence)	RPIA	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Disease associations Ribose 5-phosphate isomerase deficiency, MIM# 608611 Leukoencephalopathy Tags
Green Green List (high evidence)	SAR1B	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Expert Review Green Disease associations Chylomicron retention disease, MIM# 246700 Tags
Green Green List (high evidence)	SC5D	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Expert Review Green Disease associations Lathosterolosis, MIM# 607330 Tags
Green Green List (high evidence)	SI	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Expert Review Green Disease associations Sucrase-isomaltase deficiency, congenital, MIM# 222900 Tags
Green Green List (high evidence)	SLC10A1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Disease associations Familial hypercholanemia-2, MIM#619256 Tags
Green Green List (high evidence)	SLC16A1	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Expert Review Green Disease associations Monocarboxylate transporter 1 deficiency, MIM# 616095 Tags
Green Green List (high evidence)	SLC2A1	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Disease associations GLUT1 deficiency syndrome 1, infantile onset, severe, 606777 GLUT1 deficiency syndrome 2, childhood onset, 612126 Disorders of glucose transport Tags
Green Green List (high evidence)	SLC30A10	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Disease associations Hypermanganesemia with dystonia 1, MIM# 613280 Tags
Green Green List (high evidence)	SLC39A14	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Disease associations Hypermanganesemia with dystonia 2, MIM# 617013 Tags
Green Green List (high evidence)	SLC39A4	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Disease associations Acrodermatitis enteropathica MIM#201100 (Disorder of zinc metabolism) Tags
Green Green List (high evidence)	SLC46A1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Disease associations Folate malabsorption, hereditary, MIM# 229050 Tags
Green Green List (high evidence)	SLC5A1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Disease associations Glucose/galactose malabsorption MIM# 606824 (Disorders of glucose transport) Tags
Green Green List (high evidence)	SLC5A6	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Disease associations Neurodegeneration, infantile-onset, biotin-responsive, MIM# 618973 Tags
Green Green List (high evidence)	SLC6A19	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Disease associations Hartnup disorder, MIM# 234500 Hyperglycinuria, MIM# 138500 Iminoglycinuria, MIM# 242600 Tags
Green Green List (high evidence)	SLC6A8	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert list Expert Review Green Disease associations Cerebral creatine deficiency syndrome 1, MIM# 300352 Tags
Green Green List (high evidence)	SPTLC1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Disease associations Neuropathy, hereditary sensory and autonomic, type IA, MIM# 162400 Serine palmitoyl transferase deficiency (Disorders of complex lipid synthesis) Tags
Green Green List (high evidence)	SPTLC2	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Disease associations Neuropathy, hereditary sensory and autonomic, type IC, MIM# 613640 Serine palmitoyl transferase deficiency (Disorders of complex lipid synthesis) Tags
Green Green List (high evidence)	STS	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert list Expert Review Green Disease associations Ichthyosis, X-linked 308100 Sterol metabolism disorder Tags SV/CNV
Green Green List (high evidence)	SUOX	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Disease associations Sulfite oxidase deficiency, MIM# 272300 Tags
Green Green List (high evidence)	TALDO1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Disease associations Transaldolase deficiency , MIM#606003 Tags
Green Green List (high evidence)	TAT	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Disease associations Tyrosinemia, type II, MIM# 276600 Tags treatable
Green Green List (high evidence)	TREX1	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Disease associations Aicardi-Goutieres syndrome 1, dominant and recessive, MIM# 225750 Disorder of nucleotide metabolism Tags
Green Green List (high evidence)	TTPA	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Disease associations Ataxia with isolated vitamin E deficiency MIM#277460 disorders of vitamins and cofactors Tags
Green Green List (high evidence)	UGT1A1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Expert Review Green Disease associations Bilirubin UDP-glucuronosyltransferase 1 deficiency (Disorders of bile acid metabolism and transport) Crigler-Najjar syndrome, type I 218800 Crigler-Najjar syndrome, type II 606785 Tags
Green Green List (high evidence)	UMPS	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Expert Review Green Disease associations Orotic aciduria, MIM# 258900 Tags
Green Green List (high evidence)	UPB1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Disease associations Beta-ureidopropionase deficiency, MIM# 613161 Tags
Green Green List (high evidence)	WDR45	2 reviews 2 green	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert list Expert Review Green Disease associations Neurodegeneration with brain iron accumulation 5, MIM# 300894 Tags
Amber Amber List (moderate evidence)	AASS	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber NHS GMS Victorian Clinical Genetics Services Disease associations Hyperlysinemia, MIM# 238700 Tags disputed
Amber Amber List (moderate evidence)	ACSF3	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber NHS GMS Disease associations Combined malonic and methylmalonic aciduria MIM#614265 Tags
Amber Amber List (moderate evidence)	CD320	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Disease associations Methylmalonic aciduria, transient, due to transcobalamin receptor defect MIM#613646 Disorders of cobalamin absorption, transport and metabolism Tags
Amber Amber List (moderate evidence)	CTH	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber NHS GMS Disease associations Cystathioninuria MIM#219500 Tags
Amber Amber List (moderate evidence)	DCXR	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber NHS GMS Disease associations Pentosuria MIM#260800 Disorders of pentose metabolism Tags
Amber Amber List (moderate evidence)	GGT1	1 review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Disease associations Glutathioninuria MIM#231950 Disorders of the gamma-glutamyl cycle Tags SV/CNV
Amber Amber List (moderate evidence)	HAL	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Disease associations Histidinemia MIM#235800 Disorders of histidine, tryptophan or lysine metabolism Tags
Amber Amber List (moderate evidence)	KHK	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Disease associations Fructosuria MIM#229800 Disorders of fructose metabolism Tags
Amber Amber List (moderate evidence)	OPLAH	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber NHS GMS Disease associations 5-oxoprolinase deficiency MIM#260005 Disorders of the gamma-glutamyl cycle Tags
Amber Amber List (moderate evidence)	PFAS	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Disease associations Inborn error of metabolism, MONDO:0019052, PFAS-related Tags
Amber Amber List (moderate evidence)	SARDH	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Disease associations Sarcosinemia MIM#268900 Disorders of serine, glycine or glycerate metabolism Tags
Amber Amber List (moderate evidence)	SHPK	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Disease associations Sedoheptulokinase deficiency MIM#617213 Tags
Amber Amber List (moderate evidence)	SLC1A1	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Expert Review Amber Disease associations Dicarboxylic aminoaciduria, MIM#222730 Tags
Amber Amber List (moderate evidence)	SLC36A2	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Disease associations Hyperglycinuria MIM#138500 Iminoglycinuria, digenic MIM#242600 Disorders of amino acid transport Tags
Amber Amber List (moderate evidence)	SUGCT	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Disease associations Glutaric aciduria III MIM#231690 Organic acidurias Tags
Amber Amber List (moderate evidence)	TXNIP	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Disease associations Metabolic disease MONDO:0005066, TXNIP-related Tags
Amber Amber List (moderate evidence)	UROC1	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Amber Disease associations Urocanase deficiency, MIM#276880 Tags
Red Red List (low evidence)	DMGDH	2 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Disease associations Dimethylglycine dehydrogenase deficiency MIM#605850 Tags
Red Red List (low evidence)	GCSH	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Disease associations Glycine encephalopathy MIM#605899 Disorders of serine, glycine or glycerate metabolism Tags
Red Red List (low evidence)	GLYAT	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Disease associations Neurodevelopmental disorder, MONDO:0700092, GLYAT-related Tags
Red Red List (low evidence)	HIBADH	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Disease associations organic aciduria Tags
Red Red List (low evidence)	NAT8L	2 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Disease associations N-acetylaspartate deficiency - MIM#614063 Tags
Red Red List (low evidence)	PPA1	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Disease associations Galactosaemia, MONDO:0018116 Tags
Red Red List (low evidence)	SLC27A5	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Disease associations Bile acid-CoA ligase deficiency Disorders of bile acid biosynthesis Tags
Red Red List (low evidence)	TDO2	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Disease associations Hypertryptophanemia MIM#600627 Disorders of histidine, tryptophan or lysine metabolism Tags

Miscellaneous Metabolic Disorders (Version 2.0)

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