Miscellaneous Metabolic Disorders (Version 1.46)

List	Entity	Reviews	Mode of inheritance	Details
Filter Entities 145 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 Phenotypes 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 Phenotypes Cholestasis, progressive familial intrahepatic 3 MIM#602347 disorder of bile acid metabolism 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 Phenotypes 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 Phenotypes 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 Phenotypes 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 Phenotypes 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 Phenotypes 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 Phenotypes 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 Phenotypes 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 Phenotypes Cutis laxa, autosomal recessive, type IIIA MIM#219150 Spastic paraplegia 9A, autosomal dominant MIM#601162 Spastic paraplegia 9B, autosomal recessive MIM#616586 Cutis laxa, autosomal dominant 3 MIM#616603 disorders of ornithine or proline metabolism Tags
Green Green List (high evidence)	ALDH3A2	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Victorian Clinical Genetics Services Phenotypes 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 Phenotypes 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 Phenotypes 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 Phenotypes 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 Phenotypes 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 Phenotypes 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 Phenotypes 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 Phenotypes 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 Phenotypes 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 Phenotypes 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 Phenotypes 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 Phenotypes 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 Phenotypes 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 Phenotypes 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 Phenotypes 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 Phenotypes 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 Phenotypes 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 Phenotypes 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 Phenotypes 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 Phenotypes 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 Phenotypes 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 Phenotypes Desmosterolosis MIM#602398 Disorders of the metabolism of sterols Tags
Green Green List (high evidence)	DHCR7	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes 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 Phenotypes 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 Phenotypes 2-aminoadipic 2-oxoadipic aciduria MIM#204750 Disorders of histidine, tryptophan or lysine metabolism Tags
Green Green List (high evidence)	DPYD	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes 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 Phenotypes 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 Phenotypes 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 Phenotypes 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 Phenotypes 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 Phenotypes 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 Phenotypes 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 Phenotypes 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 Phenotypes 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 Phenotypes 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 Phenotypes 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 Phenotypes 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 Phenotypes 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 Phenotypes Hemolytic anemia due to gamma-glutamylcysteine synthetase deficiency MIM#230450 Disorders of the gamma-glutamyl cycle Tags
Green Green List (high evidence)	GDPAG STR	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Global developmental delay, progressive ataxia, and elevated glutamine MIM#618412 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 Phenotypes 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 Phenotypes Glycine encephalopathy MIM#605899 Disorders of serine, glycine or glycerate metabolism Tags
Green Green List (high evidence)	GLS	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green NHS GMS Phenotypes 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)	GLUL	2 reviews 2 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes 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 Phenotypes 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 Phenotypes 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 Phenotypes 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 Phenotypes 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 Phenotypes 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 Phenotypes 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 Phenotypes 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 Phenotypes 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 Phenotypes 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 Phenotypes 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 Phenotypes 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 Phenotypes 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 Phenotypes L-2-hydroxyglutaric aciduria MIM#236792 organic acidurias Tags
Green Green List (high evidence)	LARS	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes 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 Phenotypes 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 Phenotypes Lactase deficiency, congenital MIM#223000 Other carbohydrate disorders Tags
Green Green List (high evidence)	MAT1A	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes 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 Phenotypes 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 Phenotypes 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 Phenotypes 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 Phenotypes 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 Phenotypes 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 Phenotypes 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 Phenotypes 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 Phenotypes 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 Phenotypes 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 Phenotypes 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 Phenotypes 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 Phenotypes 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 Phenotypes 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 Phenotypes 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 Phenotypes 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 Phenotypes 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 Phenotypes 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 Phenotypes 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 Phenotypes 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 Phenotypes 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 Phenotypes 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 Phenotypes 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 Phenotypes 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 Phenotypes 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 Phenotypes 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 Phenotypes 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 Phenotypes 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 Phenotypes 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 Phenotypes Lathosterolosis, MIM# 607330 Tags
Green Green List (high evidence)	SI	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Expert Review Green Phenotypes 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 Phenotypes 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 Phenotypes 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 Phenotypes 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 Phenotypes 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 Phenotypes 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 Phenotypes 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 Phenotypes 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 Phenotypes 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 Phenotypes 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 Phenotypes 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 Phenotypes 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 Phenotypes 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 Phenotypes 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 Phenotypes 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 Phenotypes 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 Phenotypes 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 Phenotypes 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 Phenotypes 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 Phenotypes 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 Phenotypes 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 Phenotypes 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 Phenotypes 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 Phenotypes 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 Phenotypes Hyperlysinemia, MIM# 238700 Tags disputed
Amber Amber List (moderate evidence)	ACSF3	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber NHS GMS Phenotypes 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 Phenotypes 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 Phenotypes Cystathioninuria MIM#219500 Tags
Amber Amber List (moderate evidence)	DCXR	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber NHS GMS Phenotypes Pentosuria MIM#260800 Disorders of pentose metabolism Tags
Amber Amber List (moderate evidence)	DMGDH	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Dimethylglycine dehydrogenase deficiency MIM#605850 Disorders and variants of other enzymes that oxidise xenobiotics Tags
Amber Amber List (moderate evidence)	GGT1	1 review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes 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 Phenotypes 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 Phenotypes 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 Phenotypes 5-oxoprolinase deficiency MIM#260005 Disorders of the gamma-glutamyl cycle Tags
Amber Amber List (moderate evidence)	SARDH	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes 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 Phenotypes Sedoheptulokinase deficiency MIM#617213 Tags
Amber Amber List (moderate evidence)	SLC1A1	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Expert Review Amber Phenotypes 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 Phenotypes 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 Phenotypes Glutaric aciduria III MIM#231690 Organic acidurias Tags
Amber Amber List (moderate evidence)	UROC1	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Amber Phenotypes Urocanase deficiency, MIM#276880 Tags
Red Red List (low evidence)	GCSH	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Phenotypes Glycine encephalopathy MIM#605899 Disorders of serine, glycine or glycerate metabolism Tags
Red Red List (low evidence)	HIBADH	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Phenotypes organic aciduria Tags
Red Red List (low evidence)	NAT8L	2 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Phenotypes N-acetylaspartate deficiency - MIM#614063 Tags
Red Red List (low evidence)	SLC27A5	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Phenotypes 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 Phenotypes Hypertryptophanemia MIM#600627 Disorders of histidine, tryptophan or lysine metabolism Tags

Miscellaneous Metabolic Disorders (Version 1.46)

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