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Miscellaneous Metabolic Disorders v1.48 PPA1 Zornitza Stark Marked gene: PPA1 as ready
Miscellaneous Metabolic Disorders v1.48 PPA1 Zornitza Stark Gene: ppa1 has been classified as Red List (Low Evidence).
Miscellaneous Metabolic Disorders v1.48 PPA1 Zornitza Stark gene: PPA1 was added
gene: PPA1 was added to Miscellaneous Metabolic Disorders. Sources: Literature
Mode of inheritance for gene: PPA1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PPA1 were set to 37999237
Phenotypes for gene: PPA1 were set to Galactosaemia, MONDO:0018116
Review for gene: PPA1 was set to RED
Added comment: Homozygous missense variant detected in two siblings with increased galactose and galactose-related metabolites ascertained in neonatal screening. Some supportive functional data.
Sources: Literature
Miscellaneous Metabolic Disorders v1.47 GLS Zornitza Stark Mode of inheritance for gene: GLS was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Miscellaneous Metabolic Disorders v1.46 GLUL Zornitza Stark Phenotypes for gene: GLUL were changed from Glutamine deficiency, congenital MIM#610015; disorder of amino acid metabolism to Glutamine deficiency, congenital MIM#610015; Developmental and epileptic encephalopathy 116, MIM# 620806
Miscellaneous Metabolic Disorders v1.45 GLUL Zornitza Stark Mode of inheritance for gene: GLUL was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Miscellaneous Metabolic Disorders v1.44 GLUL Zornitza Stark reviewed gene: GLUL: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Glutamine deficiency, congenital MIM#610015, Developmental and epileptic encephalopathy 116, MIM# 620806; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Miscellaneous Metabolic Disorders v1.44 DPYD Bryony Thompson Tag pharmacogenomic tag was added to gene: DPYD.
Miscellaneous Metabolic Disorders v1.44 Bryony Thompson removed gene:THAP11 from the panel
Miscellaneous Metabolic Disorders v1.43 Bryony Thompson removed gene:ZNF143 from the panel
Miscellaneous Metabolic Disorders v1.42 Bryony Thompson removed gene:TCN2 from the panel
Miscellaneous Metabolic Disorders v1.41 Bryony Thompson removed gene:MTR from the panel
Miscellaneous Metabolic Disorders v1.40 Bryony Thompson removed gene:MMADHC from the panel
Miscellaneous Metabolic Disorders v1.39 Bryony Thompson removed gene:MMACHC from the panel
Miscellaneous Metabolic Disorders v1.38 Bryony Thompson removed gene:LMBRD1 from the panel
Miscellaneous Metabolic Disorders v1.37 Bryony Thompson removed gene:HCFC1 from the panel
Miscellaneous Metabolic Disorders v1.36 Bryony Thompson removed gene:GIF from the panel
Miscellaneous Metabolic Disorders v1.35 Bryony Thompson removed gene:CUBN from the panel
Miscellaneous Metabolic Disorders v1.34 CBS Bryony Thompson Phenotypes for gene: CBS were changed from Homocystinuria, B6-responsive and nonresponsive types MIM#236200; disorder of intracellular cobalamin metabolism to Homocystinuria, B6-responsive and nonresponsive types MIM#236200; disorder of intracellular cobalamin metabolism; metabolic disorder of sulfur metabolism
Miscellaneous Metabolic Disorders v1.33 Bryony Thompson removed gene:AMN from the panel
Miscellaneous Metabolic Disorders v1.32 Bryony Thompson removed gene:ABCD4 from the panel
Miscellaneous Metabolic Disorders v1.31 MCCC1 Bryony Thompson Publications for gene: MCCC1 were set to 27604308; 11170888
Miscellaneous Metabolic Disorders v1.30 MCCC1 Bryony Thompson reviewed gene: MCCC1: Rating: GREEN; Mode of pathogenicity: None; Publications: 36822454, 31730530; Phenotypes: 3-Methylcrotonyl-CoA carboxylase 1 deficiency MIM#210200, Organic acidurias; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Miscellaneous Metabolic Disorders v1.30 MCCC1 Bryony Thompson Deleted their review
Miscellaneous Metabolic Disorders v1.30 FTCD Bryony Thompson Publications for gene: FTCD were set to 27604308; 12815595
Miscellaneous Metabolic Disorders v1.29 FTCD Bryony Thompson reviewed gene: FTCD: Rating: GREEN; Mode of pathogenicity: None; Publications: http://iembase.com/disorder/47; Phenotypes: Glutamate formiminotransferase deficiency MIM#229100, Disorders of histidine, tryptophan or lysine metabolism; Mode of inheritance: None
Miscellaneous Metabolic Disorders v1.29 FTCD Bryony Thompson Deleted their review
Miscellaneous Metabolic Disorders v1.29 FTCD Bryony Thompson edited their review of gene: FTCD: Changed publications: http://iembase.com/disorder/47
Miscellaneous Metabolic Disorders v1.29 FTCD Bryony Thompson changed review comment from: Well-established gene-disease association (see OMIM entry). Glutamate formiminotransferase deficiency is classified as a metabolic disorder by the NIH GARD (https://rarediseases.info.nih.gov/diseases/diseases-by-category/14/metabolic-disorders), and is an inborn error of amino acid metabolism.
Sources: NHS GMS; to: Glutamate formiminotransferase deficiency is classified as a benign form of folate metabolism disorder and an inborn error of amino acid metabolism without clinically significant phenotype (http://iembase.com/disorder/47).
Miscellaneous Metabolic Disorders v1.29 ALDOB Zornitza Stark Marked gene: ALDOB as ready
Miscellaneous Metabolic Disorders v1.29 ALDOB Zornitza Stark Gene: aldob has been classified as Green List (High Evidence).
Miscellaneous Metabolic Disorders v1.29 ALDOB Zornitza Stark Classified gene: ALDOB as Green List (high evidence)
Miscellaneous Metabolic Disorders v1.29 ALDOB Zornitza Stark Gene: aldob has been classified as Green List (High Evidence).
Miscellaneous Metabolic Disorders v1.28 ALDOB Zornitza Stark gene: ALDOB was added
gene: ALDOB was added to Miscellaneous Metabolic Disorders. Sources: Expert Review
Mode of inheritance for gene: ALDOB was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ALDOB were set to Fructose intolerance, hereditary, MIM# 229600
Review for gene: ALDOB was set to GREEN
Added comment: Well established gene-disease association.

Clinical symptoms of HFI include gastrointestinal distress (nausea, vomiting, diarrhea, abdominal pain, anorexia), jaundice, bleeding tendency, renal tubular dysfunction and metabolic disturbances following dietary exposure to fructose, sucrose, or sorbitol. If large quantities of fructose are ingested, lethargy, seizures, and/or progressive coma may ensue. Persistent fructose exposure can result in chronic growth restriction, failure to thrive, renal and hepatic failure, and risk of death.

Symptoms appear in infancy at the time of weaning.

Treatment: Lifelong dietary restriction of fructose, sucrose, and sorbitol.

Assessed as 'strong actionability' by ClinGen.

Of particular note, a 24% sucrose solution (routinely administered to hospitalized neonates for minor procedures) should not be given to neonates known to have HFI. This recommendation is supported by case reports of reported accidental and iatrogenic fructose infusion-related serious organ failure events and/or deaths.

Alerts should be placed in the patient's chart or medical record to notify practitioners to the HFI diagnosis and to the medical risks associated with exposures to fructose and related metabolites. The patient is advised to wear at all times a medically approved alert bracelet/necklace that provides information about the diagnosis of HFI.

Evidence from 50 patients presenting with confirmed and symptomatic HFI shows that upon dietary restriction of fructose, the improvement observed is dramatic: vomiting and gastrointestinal symptoms resolved nearly immediately, bleeding tendency resolves in ~24 hours, renal tubular dysfunction can resolve in as little as 3 days, and clinical and biological findings, with the exception of hepatomegaly, resolved within a few weeks. Normal growth occurred in 2-3 years. In the 50 symptomatic patients and 5 patients who received treatment from birth, liver enlargement persisted in spite of treatment and resolution of fibrosis.
Sources: Expert Review
Miscellaneous Metabolic Disorders v1.27 Bryony Thompson removed gene:PINK1 from the panel
Miscellaneous Metabolic Disorders v1.26 THAP11 Zornitza Stark Marked gene: THAP11 as ready
Miscellaneous Metabolic Disorders v1.26 THAP11 Zornitza Stark Gene: thap11 has been classified as Red List (Low Evidence).
Miscellaneous Metabolic Disorders v1.26 THAP11 Zornitza Stark gene: THAP11 was added
gene: THAP11 was added to Miscellaneous Metabolic Disorders. Sources: Expert Review
Mode of inheritance for gene: THAP11 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: THAP11 were set to 28449119
Phenotypes for gene: THAP11 were set to Inborn disorder of cobalamin metabolism and transport, MONDO:0019220, THAP11-related
Review for gene: THAP11 was set to RED
Added comment: Single individual reported with homozygous missense variant, supportive functional data.
Sources: Expert Review
Miscellaneous Metabolic Disorders v1.25 ZNF143 Zornitza Stark Marked gene: ZNF143 as ready
Miscellaneous Metabolic Disorders v1.25 ZNF143 Zornitza Stark Gene: znf143 has been classified as Red List (Low Evidence).
Miscellaneous Metabolic Disorders v1.25 ZNF143 Zornitza Stark gene: ZNF143 was added
gene: ZNF143 was added to Miscellaneous Metabolic Disorders. Sources: Expert Review
Mode of inheritance for gene: ZNF143 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ZNF143 were set to 27349184
Phenotypes for gene: ZNF143 were set to Combined methylmalonic acidemia and homocystinuria, cblX like 1, MONDO:0002012, ZNF143-related
Review for gene: ZNF143 was set to RED
Added comment: Single individual reported with compound heterozygous variants.
Sources: Expert Review
Miscellaneous Metabolic Disorders v1.24 GAMT Zornitza Stark Tag treatable tag was added to gene: GAMT.
Miscellaneous Metabolic Disorders v1.24 CUBN Zornitza Stark Tag treatable tag was added to gene: CUBN.
Miscellaneous Metabolic Disorders v1.24 GALT Zornitza Stark Mode of inheritance for gene: GALT was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to BIALLELIC, autosomal or pseudoautosomal
Miscellaneous Metabolic Disorders v1.23 GALT Zornitza Stark reviewed gene: GALT: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Galactosemia MIM#230400; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Miscellaneous Metabolic Disorders v1.23 MOCS1 Zornitza Stark Tag treatable tag was added to gene: MOCS1.
Miscellaneous Metabolic Disorders v1.23 ASL Zornitza Stark Tag treatable tag was added to gene: ASL.
Miscellaneous Metabolic Disorders v1.23 ARG1 Zornitza Stark Tag treatable tag was added to gene: ARG1.
Miscellaneous Metabolic Disorders v1.23 AHCY Zornitza Stark Tag treatable tag was added to gene: AHCY.
Miscellaneous Metabolic Disorders v1.23 GALE Zornitza Stark Tag treatable tag was added to gene: GALE.
Miscellaneous Metabolic Disorders v1.23 GALK1 Zornitza Stark Tag treatable tag was added to gene: GALK1.
Miscellaneous Metabolic Disorders v1.23 GALT Zornitza Stark Tag treatable tag was added to gene: GALT.
Miscellaneous Metabolic Disorders v1.23 TAT Zornitza Stark Tag treatable tag was added to gene: TAT.
Miscellaneous Metabolic Disorders v1.23 PAH Zornitza Stark Tag treatable tag was added to gene: PAH.
Miscellaneous Metabolic Disorders v1.23 BTD Zornitza Stark Tag treatable tag was added to gene: BTD.
Miscellaneous Metabolic Disorders v1.23 GCDH Zornitza Stark Tag treatable tag was added to gene: GCDH.
Miscellaneous Metabolic Disorders v1.23 CBS Zornitza Stark Tag treatable tag was added to gene: CBS.
Miscellaneous Metabolic Disorders v1.23 MMADHC Zornitza Stark Tag treatable tag was added to gene: MMADHC.
Miscellaneous Metabolic Disorders v1.23 MMACHC Zornitza Stark Tag treatable tag was added to gene: MMACHC.
Miscellaneous Metabolic Disorders v1.23 LMBRD1 Zornitza Stark Tag treatable tag was added to gene: LMBRD1.
Miscellaneous Metabolic Disorders v1.23 ASS1 Zornitza Stark Tag treatable tag was added to gene: ASS1.
Miscellaneous Metabolic Disorders v1.23 ALDH7A1 Zornitza Stark Tag treatable tag was added to gene: ALDH7A1.
Miscellaneous Metabolic Disorders v1.23 AKR1D1 Zornitza Stark Tag treatable tag was added to gene: AKR1D1.
Miscellaneous Metabolic Disorders v1.23 Bryony Thompson removed gene:BCKDK from the panel
Miscellaneous Metabolic Disorders v1.22 Bryony Thompson removed gene:BCAT2 from the panel
Miscellaneous Metabolic Disorders v1.21 Bryony Thompson removed gene:ACAD8 from the panel
Miscellaneous Metabolic Disorders v1.20 SLC1A1 Zornitza Stark Marked gene: SLC1A1 as ready
Miscellaneous Metabolic Disorders v1.20 SLC1A1 Zornitza Stark Gene: slc1a1 has been classified as Amber List (Moderate Evidence).
Miscellaneous Metabolic Disorders v1.20 SLC1A1 Zornitza Stark Classified gene: SLC1A1 as Amber List (moderate evidence)
Miscellaneous Metabolic Disorders v1.20 SLC1A1 Zornitza Stark Gene: slc1a1 has been classified as Amber List (Moderate Evidence).
Miscellaneous Metabolic Disorders v1.19 SLC1A1 Zornitza Stark gene: SLC1A1 was added
gene: SLC1A1 was added to Miscellaneous Metabolic Disorders. Sources: Expert Review
Mode of inheritance for gene: SLC1A1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SLC1A1 were set to 21123949
Phenotypes for gene: SLC1A1 were set to Dicarboxylic aminoaciduria, MIM#222730
Review for gene: SLC1A1 was set to AMBER
Added comment: Only two families reported and mouse KO. Rated as LIMITED by ClinGen.
Sources: Expert Review
Miscellaneous Metabolic Disorders v1.18 SLC16A1 Zornitza Stark Marked gene: SLC16A1 as ready
Miscellaneous Metabolic Disorders v1.18 SLC16A1 Zornitza Stark Gene: slc16a1 has been classified as Green List (High Evidence).
Miscellaneous Metabolic Disorders v1.18 SLC16A1 Zornitza Stark Classified gene: SLC16A1 as Green List (high evidence)
Miscellaneous Metabolic Disorders v1.18 SLC16A1 Zornitza Stark Gene: slc16a1 has been classified as Green List (High Evidence).
Miscellaneous Metabolic Disorders v1.17 SLC16A1 Zornitza Stark gene: SLC16A1 was added
gene: SLC16A1 was added to Miscellaneous Metabolic Disorders. Sources: Expert Review
Mode of inheritance for gene: SLC16A1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: SLC16A1 were set to 25390740
Phenotypes for gene: SLC16A1 were set to Monocarboxylate transporter 1 deficiency, MIM# 616095
Review for gene: SLC16A1 was set to GREEN
Added comment: 3 individuals with bi-allelic and 5 with mono-allelic variants reported. Individuals with bi-allelic variants had more severe presentation, including mild ID but unclear if this is primary or secondary to episodes of ketoacidosis.

All patients presented with bouts of ketoacidosis provoked by fasting or infections in the first years of life. Ketoacidotic episodes were preceded by poor feeding and vomiting and were associated with dehydration, which was a consequence of osmotic diuresis and vomiting. In all patients, treatment with intravenous glucose or dextrose, combined with bicarbonate, led to rapid clearance of metabolic acidosis. Early initiation of treatment appeared to prevent ketoacidosis, and ensuring adequate caloric intake reduced the number of episodes. The frequency of ketoacidotic episodes appeared to decrease over time, and none of the patients had documented ketoacidosis after 7 years of age, although some patients had marked ketonuria associated with mild infections.
Sources: Expert Review
Miscellaneous Metabolic Disorders v1.16 HAAO Zornitza Stark Publications for gene: HAAO were set to 28792876
Miscellaneous Metabolic Disorders v1.15 HAAO Zornitza Stark reviewed gene: HAAO: Rating: GREEN; Mode of pathogenicity: None; Publications: 33942433; Phenotypes: Vertebral, cardiac, renal, and limb defects syndrome 1 MIM#617660; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Miscellaneous Metabolic Disorders v1.15 FDFT1 Zornitza Stark Marked gene: FDFT1 as ready
Miscellaneous Metabolic Disorders v1.15 FDFT1 Zornitza Stark Gene: fdft1 has been classified as Green List (High Evidence).
Miscellaneous Metabolic Disorders v1.15 FDFT1 Zornitza Stark Classified gene: FDFT1 as Green List (high evidence)
Miscellaneous Metabolic Disorders v1.15 FDFT1 Zornitza Stark Gene: fdft1 has been classified as Green List (High Evidence).
Miscellaneous Metabolic Disorders v1.14 FDFT1 Zornitza Stark gene: FDFT1 was added
gene: FDFT1 was added to Miscellaneous Metabolic Disorders. Sources: Expert Review
Mode of inheritance for gene: FDFT1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: FDFT1 were set to 29909962
Phenotypes for gene: FDFT1 were set to squalene synthase deficiency MONDO:0032566
Review for gene: FDFT1 was set to GREEN
Added comment: Rare disorder of cholesterol biosynthesis, similar to Smith-Lemli-Opitz syndrome. Only 3 individuals with squalene synthase deficiency from 2 families with homozygous/compound heterozygous variants reported. Metabolite profiles from affected individuals suggested a defect at the level of squalene synthase. Reduced protein expression in patient cells.
Sources: Expert Review
Miscellaneous Metabolic Disorders v1.13 OAT Zornitza Stark Marked gene: OAT as ready
Miscellaneous Metabolic Disorders v1.13 OAT Zornitza Stark Gene: oat has been classified as Green List (High Evidence).
Miscellaneous Metabolic Disorders v1.13 OAT Zornitza Stark Classified gene: OAT as Green List (high evidence)
Miscellaneous Metabolic Disorders v1.13 OAT Zornitza Stark Gene: oat has been classified as Green List (High Evidence).
Miscellaneous Metabolic Disorders v1.12 OAT Zornitza Stark gene: OAT was added
gene: OAT was added to Miscellaneous Metabolic Disorders. Sources: Expert Review
Mode of inheritance for gene: OAT was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: OAT were set to 33068755; 1618792; 2220818; 3339136; 3417397; 2916581; 1737786; 33463379
Phenotypes for gene: OAT were set to Gyrate atrophy of choroid and retina with or without ornithinemia - MIM#258870
Review for gene: OAT was set to GREEN
Added comment: Condition characterised by isolated elevation of plasma ornithine without elevation of ammonia
Sources: Expert Review
Miscellaneous Metabolic Disorders v1.11 NAT8L Zornitza Stark Marked gene: NAT8L as ready
Miscellaneous Metabolic Disorders v1.11 NAT8L Zornitza Stark Gene: nat8l has been classified as Red List (Low Evidence).
Miscellaneous Metabolic Disorders v1.11 NAT8L Zornitza Stark Phenotypes for gene: NAT8L were changed from ?N-acetylaspartate deficiency - MIM#614063 to N-acetylaspartate deficiency - MIM#614063
Miscellaneous Metabolic Disorders v1.10 NAT8L Zornitza Stark Classified gene: NAT8L as Red List (low evidence)
Miscellaneous Metabolic Disorders v1.10 NAT8L Zornitza Stark Gene: nat8l has been classified as Red List (Low Evidence).
Miscellaneous Metabolic Disorders v1.9 NAT8L Zornitza Stark reviewed gene: NAT8L: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: N-acetylaspartate deficiency - MIM#614063; Mode of inheritance: None
Miscellaneous Metabolic Disorders v1.9 NAT8L Krithika Murali gene: NAT8L was added
gene: NAT8L was added to Miscellaneous Metabolic Disorders. Sources: Literature
Mode of inheritance for gene: NAT8L was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NAT8L were set to 11310630; 19807691; 32275776
Phenotypes for gene: NAT8L were set to ?N-acetylaspartate deficiency - MIM#614063
Review for gene: NAT8L was set to AMBER
Added comment: Absence of brain N-acetylaspartate, has been described in only one patient, with truncal ataxia, marked developmental delay, seizures and secondary microcephaly (first described by - PMID: 11310630 Martin et al 2001). PMID: 19807691 - Wiame et al 2009 identified in this patient a homozygous 19 bp NAT8L gene deletion, resulting in a change in reading frame and the absence of production of a functional protein. The affected individual is adopted and testing of the biological parents was not possible. The authors provide supportive functional studies.
Sources: Literature
Miscellaneous Metabolic Disorders v1.9 HIBADH Alison Yeung Marked gene: HIBADH as ready
Miscellaneous Metabolic Disorders v1.9 HIBADH Alison Yeung Gene: hibadh has been classified as Red List (Low Evidence).
Miscellaneous Metabolic Disorders v1.9 HIBADH Alison Yeung gene: HIBADH was added
gene: HIBADH was added to Miscellaneous Metabolic Disorders. Sources: Literature
Mode of inheritance for gene: HIBADH was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: HIBADH were set to 34176136
Phenotypes for gene: HIBADH were set to organic aciduria
Review for gene: HIBADH was set to RED
Added comment: Single family reported with two siblings presenting with 3-Hydroxyisobutyric aciduria. Male sib with neurodevelopmental symptoms, female sibling asymptomatic. No functional studies
Sources: Literature
Miscellaneous Metabolic Disorders v1.8 GDPAG Bryony Thompson Marked STR: GDPAG as ready
Miscellaneous Metabolic Disorders v1.8 GDPAG Bryony Thompson Str: gdpag has been classified as Green List (High Evidence).
Miscellaneous Metabolic Disorders v1.8 GDPAG Bryony Thompson Classified STR: GDPAG as Green List (high evidence)
Miscellaneous Metabolic Disorders v1.8 GDPAG Bryony Thompson Str: gdpag has been classified as Green List (High Evidence).
Miscellaneous Metabolic Disorders v1.7 GDPAG Bryony Thompson STR: GDPAG was added
STR: GDPAG was added to Miscellaneous Metabolic Disorders. Sources: Literature
Mode of inheritance for STR: GDPAG was set to BIALLELIC, autosomal or pseudoautosomal
Publications for STR: GDPAG were set to 30970188
Phenotypes for STR: GDPAG were set to Global developmental delay, progressive ataxia, and elevated glutamine MIM#618412
Review for STR: GDPAG was set to GREEN
STR: GDPAG was marked as clinically relevant
Added comment: NM_014905.5(GLS):c.-212_-210GCA[X]
3 unrelated cases with glutaminase deficiency were compound heterozygous (2) or homozygous for expansion of the repeat, 680-900 repeats in blood samples and 400-110 repeats in fibroblasts. In an analysis of 8295 genomes the median size of the repeat was 14 repeats (8-16 repeats range). There was 1 heterozygous allele with 90 repeats. Functional assays suggest the predominant effect of the repeats is at the level of histone modifications. Epigenetic gene silencing is the mechanism of disease of the repeat. Other variant types are also reported with disease.
Sources: Literature
Miscellaneous Metabolic Disorders v1.6 Bryony Thompson removed STR:GLS from the panel
Miscellaneous Metabolic Disorders v1.5 SLC10A1 Zornitza Stark Marked gene: SLC10A1 as ready
Miscellaneous Metabolic Disorders v1.5 SLC10A1 Zornitza Stark Gene: slc10a1 has been classified as Green List (High Evidence).
Miscellaneous Metabolic Disorders v1.5 SLC10A1 Zornitza Stark Classified gene: SLC10A1 as Green List (high evidence)
Miscellaneous Metabolic Disorders v1.5 SLC10A1 Zornitza Stark Gene: slc10a1 has been classified as Green List (High Evidence).
Miscellaneous Metabolic Disorders v1.4 SLC10A1 Zornitza Stark gene: SLC10A1 was added
gene: SLC10A1 was added to Miscellaneous Metabolic Disorders. Sources: Expert list
Mode of inheritance for gene: SLC10A1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SLC10A1 were set to 24867799; 27882152; 28835676; 29290974; 31201272
Phenotypes for gene: SLC10A1 were set to Familial hypercholanemia-2, MIM#619256
Review for gene: SLC10A1 was set to GREEN
Added comment: IEM characterised by persistently increased plasma levels of conjugated bile salts apparent from infancy. Most patients are asymptomatic and have no liver dysfunction, although some neonates may have transient jaundice or transiently elevated liver enzymes. These abnormalities improve with age. The bile acid defect can result in impaired absorption of fat-soluble vitamins, including D and K, causing decreased bone mineral density or prolonged prothrobin time (PT).

Some variants are recurrent (founder effect likely) but at least 3 different variants reported, mouse model.
Sources: Expert list
Miscellaneous Metabolic Disorders v1.3 MSMO1 Zornitza Stark Phenotypes for gene: MSMO1 were changed from Microcephaly, congenital cataract, and psoriasiform dermatitis MIM#616834; Disorders of the metabolism of sterols to Microcephaly, congenital cataract, and psoriasiform dermatitis MIM#616834; Disorders of the metabolism of sterols; MONDO:0014793
Miscellaneous Metabolic Disorders v1.2 BAAT Zornitza Stark Phenotypes for gene: BAAT were changed from Hypercholanemia, familial MIM#607748; disorder of bile acid metabolism to Bile acid conjugation defect 1, MIM# 619232; Hypercholanemia, familial MIM#607748; disorder of bile acid metabolism
Miscellaneous Metabolic Disorders v1.1 BAAT Zornitza Stark reviewed gene: BAAT: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Bile acid conjugation defect 1, MIM# 619232; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Miscellaneous Metabolic Disorders v1.1 HS2ST1 Zornitza Stark Phenotypes for gene: HS2ST1 were changed from Developmental delay and corpus callosum, skeletal, and renal abnormalities; disorder of glycosaminoglycan metabolism to Neurofacioskeletal syndrome with or without renal agenesis, MIM#619194; Developmental delay and corpus callosum, skeletal, and renal abnormalities; disorder of glycosaminoglycan metabolism
Miscellaneous Metabolic Disorders v1.0 HS2ST1 Zornitza Stark reviewed gene: HS2ST1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Neurofacioskeletal syndrome with or without renal agenesis, MIM#619194; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Miscellaneous Metabolic Disorders v1.0 Bryony Thompson promoted panel to version 1.0
Miscellaneous Metabolic Disorders v0.343 Bryony Thompson removed gene:ADAR from the panel
Miscellaneous Metabolic Disorders v0.342 SLC27A5 Bryony Thompson Marked gene: SLC27A5 as ready
Miscellaneous Metabolic Disorders v0.342 SLC27A5 Bryony Thompson Gene: slc27a5 has been classified as Red List (Low Evidence).
Miscellaneous Metabolic Disorders v0.342 SLC27A5 Bryony Thompson gene: SLC27A5 was added
gene: SLC27A5 was added to Miscellaneous Metabolic Disorders. Sources: Literature
Mode of inheritance for gene: SLC27A5 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SLC27A5 were set to 22089923; 27604308
Phenotypes for gene: SLC27A5 were set to Bile acid-CoA ligase deficiency; Disorders of bile acid biosynthesis
Review for gene: SLC27A5 was set to RED
Added comment: 2 siblings with a bile acid phenotype in a single consanguineous family with a homozygous variant.
Sources: Literature
Miscellaneous Metabolic Disorders v0.341 SHPK Bryony Thompson Classified gene: SHPK as Amber List (moderate evidence)
Miscellaneous Metabolic Disorders v0.341 SHPK Bryony Thompson Added comment: Comment on list classification: Likely benign disorder
Miscellaneous Metabolic Disorders v0.341 SHPK Bryony Thompson Gene: shpk has been classified as Amber List (Moderate Evidence).
Miscellaneous Metabolic Disorders v0.340 SHPK Bryony Thompson gene: SHPK was added
gene: SHPK was added to Miscellaneous Metabolic Disorders. Sources: Literature
Mode of inheritance for gene: SHPK was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SHPK were set to 25647543; 27604308
Phenotypes for gene: SHPK were set to Sedoheptulokinase deficiency MIM#617213
Review for gene: SHPK was set to AMBER
Added comment: 2 unrelated cases reported, with elevated excretion of erythritol and sedoheptulose, and each had a homozygous nonsense variant. The first patient presented with neonatal cholestasis, hypoglycemia, and anemia, while the second patient presented with congenital arthrogryposis multiplex, multiple contractures, and dysmorphisms. Due to inconsistency in phenotypes, likely SHPK deficiency is a benign disorder.
Sources: Literature
Miscellaneous Metabolic Disorders v0.339 PDXK Bryony Thompson Marked gene: PDXK as ready
Miscellaneous Metabolic Disorders v0.339 PDXK Bryony Thompson Gene: pdxk has been classified as Green List (High Evidence).
Miscellaneous Metabolic Disorders v0.339 PDXK Bryony Thompson Classified gene: PDXK as Green List (high evidence)
Miscellaneous Metabolic Disorders v0.339 PDXK Bryony Thompson Gene: pdxk has been classified as Green List (High Evidence).
Miscellaneous Metabolic Disorders v0.338 PDXK Bryony Thompson Classified gene: PDXK as Red List (low evidence)
Miscellaneous Metabolic Disorders v0.338 PDXK Bryony Thompson Gene: pdxk has been classified as Red List (Low Evidence).
Miscellaneous Metabolic Disorders v0.337 PDXK Bryony Thompson gene: PDXK was added
gene: PDXK was added to Miscellaneous Metabolic Disorders. Sources: Literature
Mode of inheritance for gene: PDXK was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PDXK were set to 32522499; 31187503; 27604308
Phenotypes for gene: PDXK were set to Neuropathy, hereditary motor and sensory, type VIC, with optic atrophy MIM#618511; Disorders of pyridoxine metabolism
Review for gene: PDXK was set to GREEN
Added comment: 6 individuals from 3 unrelated families with biallelic variants, and supporting cellular and biochemical assays.
Sources: Literature
Miscellaneous Metabolic Disorders v0.336 DMGDH Bryony Thompson Marked gene: DMGDH as ready
Miscellaneous Metabolic Disorders v0.336 DMGDH Bryony Thompson Gene: dmgdh has been classified as Amber List (Moderate Evidence).
Miscellaneous Metabolic Disorders v0.336 DMGDH Bryony Thompson Classified gene: DMGDH as Amber List (moderate evidence)
Miscellaneous Metabolic Disorders v0.336 DMGDH Bryony Thompson Gene: dmgdh has been classified as Amber List (Moderate Evidence).
Miscellaneous Metabolic Disorders v0.335 DMGDH Bryony Thompson gene: DMGDH was added
gene: DMGDH was added to Miscellaneous Metabolic Disorders. Sources: Literature
Mode of inheritance for gene: DMGDH was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: DMGDH were set to 11231903; 18937046; 28881522; 27604308
Phenotypes for gene: DMGDH were set to Dimethylglycine dehydrogenase deficiency MIM#605850; Disorders and variants of other enzymes that oxidise xenobiotics
Review for gene: DMGDH was set to AMBER
Added comment: Apparently only 2 cases with biallelic variants reported, and in vitro functional analyses the originally reported variant (H109R)
Sources: Literature
Miscellaneous Metabolic Disorders v0.334 Bryony Thompson removed gene:MTTP from the panel
Miscellaneous Metabolic Disorders v0.333 CD320 Bryony Thompson Marked gene: CD320 as ready
Miscellaneous Metabolic Disorders v0.333 CD320 Bryony Thompson Gene: cd320 has been classified as Amber List (Moderate Evidence).
Miscellaneous Metabolic Disorders v0.333 CD320 Bryony Thompson Classified gene: CD320 as Amber List (moderate evidence)
Miscellaneous Metabolic Disorders v0.333 CD320 Bryony Thompson Added comment: Comment on list classification: Benign clinical condition
Miscellaneous Metabolic Disorders v0.333 CD320 Bryony Thompson Gene: cd320 has been classified as Amber List (Moderate Evidence).
Miscellaneous Metabolic Disorders v0.332 CD320 Bryony Thompson gene: CD320 was added
gene: CD320 was added to Miscellaneous Metabolic Disorders. Sources: Literature
Mode of inheritance for gene: CD320 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CD320 were set to 29663633; 27604308; 30303736
Phenotypes for gene: CD320 were set to Methylmalonic aciduria, transient, due to transcobalamin receptor defect MIM#613646; Disorders of cobalamin absorption, transport and metabolism
Review for gene: CD320 was set to GREEN
Added comment: At least 9 cases reported with biallelic variants, all but 1 case are homozygous for p.Glu88del. The AF of this variant is ~1% in gnomAD v2.1.1, with 12 homozygotes. However, this is not unexpected given the apparent asymptomatic nature of the metabolic condition. Null mouse model has vitamin B12 deficiency.
Sources: Literature
Miscellaneous Metabolic Disorders v0.331 AASS Zornitza Stark Tag disputed tag was added to gene: AASS.
Miscellaneous Metabolic Disorders v0.331 GATM Bryony Thompson Classified gene: GATM as Green List (high evidence)
Miscellaneous Metabolic Disorders v0.331 GATM Bryony Thompson Gene: gatm has been classified as Green List (High Evidence).
Miscellaneous Metabolic Disorders v0.330 GATM Bryony Thompson gene: GATM was added
gene: GATM was added to Miscellaneous Metabolic Disorders. Sources: NHS GMS
Mode of inheritance for gene: GATM was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: GATM were set to 11555793; 27604308
Phenotypes for gene: GATM were set to Cerebral creatine deficiency syndrome 3 MIM#612718
Review for gene: GATM was set to GREEN
gene: GATM was marked as current diagnostic
Added comment: Well-established gene-disease association (see OMIM entry). L-arginine:glycine amidinotransferase (AGAT) deficiency is classified as a metabolic disorder by the NIH GARD (https://rarediseases.info.nih.gov/diseases/diseases-by-category/14/metabolic-disorders), and is an inborn error of creatine metabolism.
Sources: NHS GMS
Miscellaneous Metabolic Disorders v0.328 KHK Bryony Thompson Marked gene: KHK as ready
Miscellaneous Metabolic Disorders v0.328 KHK Bryony Thompson Gene: khk has been classified as Amber List (Moderate Evidence).
Miscellaneous Metabolic Disorders v0.328 KHK Bryony Thompson Classified gene: KHK as Amber List (moderate evidence)
Miscellaneous Metabolic Disorders v0.328 KHK Bryony Thompson Added comment: Comment on list classification: Likely a clinically benign condition
Miscellaneous Metabolic Disorders v0.328 KHK Bryony Thompson Gene: khk has been classified as Amber List (Moderate Evidence).
Miscellaneous Metabolic Disorders v0.327 KHK Bryony Thompson gene: KHK was added
gene: KHK was added to Miscellaneous Metabolic Disorders. Sources: Literature
Mode of inheritance for gene: KHK was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: KHK were set to 7833921; 27604308; 29870677
Phenotypes for gene: KHK were set to Fructosuria MIM#229800; Disorders of fructose metabolism
Review for gene: KHK was set to AMBER
Added comment: Single family with a non-pathogenic phenotype and a supporting mouse model
Sources: Literature
Miscellaneous Metabolic Disorders v0.326 GGT1 Bryony Thompson Marked gene: GGT1 as ready
Miscellaneous Metabolic Disorders v0.326 GGT1 Bryony Thompson Gene: ggt1 has been classified as Amber List (Moderate Evidence).
Miscellaneous Metabolic Disorders v0.326 GGT1 Bryony Thompson Classified gene: GGT1 as Amber List (moderate evidence)
Miscellaneous Metabolic Disorders v0.326 GGT1 Bryony Thompson Added comment: Comment on list classification: Dominant form appears to be a benign metabolic condition. Currently only one recessive family reported, therefore insufficient evidence to determine clinical phenotype.
Miscellaneous Metabolic Disorders v0.326 GGT1 Bryony Thompson Gene: ggt1 has been classified as Amber List (Moderate Evidence).
Miscellaneous Metabolic Disorders v0.325 GGT1 Bryony Thompson gene: GGT1 was added
gene: GGT1 was added to Miscellaneous Metabolic Disorders. Sources: Literature
SV/CNV tags were added to gene: GGT1.
Mode of inheritance for gene: GGT1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: GGT1 were set to 31520399; 27604308; 23615310; 29483667
Phenotypes for gene: GGT1 were set to Glutathioninuria MIM#231950; Disorders of the gamma-glutamyl cycle
Review for gene: GGT1 was set to AMBER
Added comment: 2 unrelated families segregating heterozygous variants with GGTemia, with no clinical phentoype. 2 sibs with a 16.9 kb homozygous deletion with glutathionuria and mild psychomotor developmental delay and mild neurological symptoms.
Sources: Literature
Miscellaneous Metabolic Disorders v0.324 PREPL Bryony Thompson Marked gene: PREPL as ready
Miscellaneous Metabolic Disorders v0.324 PREPL Bryony Thompson Gene: prepl has been classified as Green List (High Evidence).
Miscellaneous Metabolic Disorders v0.324 PREPL Bryony Thompson Classified gene: PREPL as Green List (high evidence)
Miscellaneous Metabolic Disorders v0.324 PREPL Bryony Thompson Gene: prepl has been classified as Green List (High Evidence).
Miscellaneous Metabolic Disorders v0.323 PREPL Bryony Thompson edited their review of gene: PREPL: Changed publications: 28726805, 27604308, 24610330
Miscellaneous Metabolic Disorders v0.323 PREPL Bryony Thompson gene: PREPL was added
gene: PREPL was added to Miscellaneous Metabolic Disorders. Sources: Literature
SV/CNV tags were added to gene: PREPL.
Mode of inheritance for gene: PREPL was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PREPL were set to 28726805; 27604308
Phenotypes for gene: PREPL were set to Myasthenic syndrome, congenital, 22 MIM#616224; hypotonia-cystinuria syndrome; Disorders of amino acid transport
Review for gene: PREPL was set to GREEN
Added comment: 5 cases with isolated PREPL deficiency, 3 with hypotonia-cystinuria syndrome, and 2 with atypical hypotonia-cystinuria syndrome
Sources: Literature
Miscellaneous Metabolic Disorders v0.322 SLC36A2 Bryony Thompson changed review comment from: 5 families with iminoglycinuria or hyperglycinuria with classic semidominant inheritance pattern in which 2 nonfunctional alleles conferred the IG phenotype whereas 1 nonfunctional allele was sufficient to confer the HG phenotype. Mutations in SLC36A2 that retained residual transport activity resulted in the IG phenotype only when combined with haploinsufficiency of the imino acid transporter SLC6A20 or deficiency of the neutral amino acid transporter SLC6A19.
Sources: Literature; to: 5 families with iminoglycinuria or hyperglycinuria with classic semidominant inheritance pattern in which 2 nonfunctional alleles conferred the IG phenotype whereas 1 nonfunctional allele was sufficient to confer the HG phenotype. Mutations in SLC36A2 that retained residual transport activity resulted in the IG phenotype only when combined with haploinsufficiency of the imino acid transporter SLC6A20 or deficiency of the neutral amino acid transporter SLC6A19. Additional homozygote reported in 2015.
Sources: Literature
Miscellaneous Metabolic Disorders v0.322 SLC36A2 Bryony Thompson Classified gene: SLC36A2 as Amber List (moderate evidence)
Miscellaneous Metabolic Disorders v0.322 SLC36A2 Bryony Thompson Added comment: Comment on list classification: Biochemical phenotypes without adverse clinical consequences
Miscellaneous Metabolic Disorders v0.322 SLC36A2 Bryony Thompson Gene: slc36a2 has been classified as Amber List (Moderate Evidence).
Miscellaneous Metabolic Disorders v0.321 SLC36A2 Bryony Thompson gene: SLC36A2 was added
gene: SLC36A2 was added to Miscellaneous Metabolic Disorders. Sources: Literature
Mode of inheritance for gene: SLC36A2 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: SLC36A2 were set to 19033659; 26141664; 27604308
Phenotypes for gene: SLC36A2 were set to Hyperglycinuria MIM#138500; Iminoglycinuria, digenic MIM#242600; Disorders of amino acid transport
Review for gene: SLC36A2 was set to GREEN
Added comment: 5 families with iminoglycinuria or hyperglycinuria with classic semidominant inheritance pattern in which 2 nonfunctional alleles conferred the IG phenotype whereas 1 nonfunctional allele was sufficient to confer the HG phenotype. Mutations in SLC36A2 that retained residual transport activity resulted in the IG phenotype only when combined with haploinsufficiency of the imino acid transporter SLC6A20 or deficiency of the neutral amino acid transporter SLC6A19.
Sources: Literature
Miscellaneous Metabolic Disorders v0.320 PYCR1 Bryony Thompson Marked gene: PYCR1 as ready
Miscellaneous Metabolic Disorders v0.320 PYCR1 Bryony Thompson Gene: pycr1 has been classified as Green List (High Evidence).
Miscellaneous Metabolic Disorders v0.320 PYCR1 Bryony Thompson Classified gene: PYCR1 as Green List (high evidence)
Miscellaneous Metabolic Disorders v0.320 PYCR1 Bryony Thompson Gene: pycr1 has been classified as Green List (High Evidence).
Miscellaneous Metabolic Disorders v0.319 PYCR1 Bryony Thompson gene: PYCR1 was added
gene: PYCR1 was added to Miscellaneous Metabolic Disorders. Sources: NHS GMS
Mode of inheritance for gene: PYCR1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PYCR1 were set to 19576563; 27604308
Phenotypes for gene: PYCR1 were set to Cutis laxa, autosomal recessive, type IIB MIM#612940; Cutis laxa, autosomal recessive, type IIIB MIM#614438; Disorders of ornithine or proline metabolism
Review for gene: PYCR1 was set to GREEN
gene: PYCR1 was marked as current diagnostic
Added comment: Well-established gene-disease association (see OMIM entry). PYCR1 deficiency causes an inborn error of proline metabolism.
Sources: NHS GMS
Miscellaneous Metabolic Disorders v0.318 GCSH Bryony Thompson Marked gene: GCSH as ready
Miscellaneous Metabolic Disorders v0.318 GCSH Bryony Thompson Gene: gcsh has been classified as Red List (Low Evidence).
Miscellaneous Metabolic Disorders v0.318 GCSH Bryony Thompson gene: GCSH was added
gene: GCSH was added to Miscellaneous Metabolic Disorders. Sources: Literature
Mode of inheritance for gene: GCSH was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: GCSH were set to 1671321; 27604308
Phenotypes for gene: GCSH were set to Glycine encephalopathy MIM#605899; Disorders of serine, glycine or glycerate metabolism
Review for gene: GCSH was set to RED
Added comment: Single case reported
Sources: Literature
Miscellaneous Metabolic Disorders v0.317 SARDH Bryony Thompson Marked gene: SARDH as ready
Miscellaneous Metabolic Disorders v0.317 SARDH Bryony Thompson Gene: sardh has been classified as Amber List (Moderate Evidence).
Miscellaneous Metabolic Disorders v0.317 SARDH Bryony Thompson Classified gene: SARDH as Amber List (moderate evidence)
Miscellaneous Metabolic Disorders v0.317 SARDH Bryony Thompson Added comment: Comment on list classification: Benign metabolic state producing no disease
Miscellaneous Metabolic Disorders v0.317 SARDH Bryony Thompson Gene: sardh has been classified as Amber List (Moderate Evidence).
Miscellaneous Metabolic Disorders v0.316 SARDH Bryony Thompson gene: SARDH was added
gene: SARDH was added to Miscellaneous Metabolic Disorders. Sources: Literature
Mode of inheritance for gene: SARDH was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SARDH were set to 22825317; 27604308
Phenotypes for gene: SARDH were set to Sarcosinemia MIM#268900; Disorders of serine, glycine or glycerate metabolism
Review for gene: SARDH was set to GREEN
Added comment: 4 individuals from 3 consanguineous Israeli Arab families and 3 individuals from 3 French families who had elevated levels of sarcosine in blood and urine.
Sources: Literature
Miscellaneous Metabolic Disorders v0.315 PSPH Bryony Thompson Marked gene: PSPH as ready
Miscellaneous Metabolic Disorders v0.315 PSPH Bryony Thompson Gene: psph has been classified as Green List (High Evidence).
Miscellaneous Metabolic Disorders v0.315 PSPH Bryony Thompson Classified gene: PSPH as Green List (high evidence)
Miscellaneous Metabolic Disorders v0.315 PSPH Bryony Thompson Gene: psph has been classified as Green List (High Evidence).
Miscellaneous Metabolic Disorders v0.314 PSPH Bryony Thompson gene: PSPH was added
gene: PSPH was added to Miscellaneous Metabolic Disorders. Sources: NHS GMS
Mode of inheritance for gene: PSPH was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PSPH were set to 14673469; 25080166; 27604308; 26888760; 25152457
Phenotypes for gene: PSPH were set to Phosphoserine phosphatase deficiency MIM#614023; Disorders of serine, glycine or glycerate metabolism
Review for gene: PSPH was set to GREEN
Added comment: 9 cases in 4 families reported with biallelic variants
Sources: NHS GMS
Miscellaneous Metabolic Disorders v0.313 ACSF3 Zornitza Stark Marked gene: ACSF3 as ready
Miscellaneous Metabolic Disorders v0.313 ACSF3 Zornitza Stark Gene: acsf3 has been classified as Amber List (Moderate Evidence).
Miscellaneous Metabolic Disorders v0.312 Zornitza Stark Panel types changed to Victorian Clinical Genetics Services; Royal Melbourne Hospital; Rare Disease
Miscellaneous Metabolic Disorders v0.311 DHTKD1 Bryony Thompson Marked gene: DHTKD1 as ready
Miscellaneous Metabolic Disorders v0.311 DHTKD1 Bryony Thompson Gene: dhtkd1 has been classified as Green List (High Evidence).
Miscellaneous Metabolic Disorders v0.311 DHTKD1 Bryony Thompson Classified gene: DHTKD1 as Green List (high evidence)
Miscellaneous Metabolic Disorders v0.311 DHTKD1 Bryony Thompson Gene: dhtkd1 has been classified as Green List (High Evidence).
Miscellaneous Metabolic Disorders v0.310 DHTKD1 Bryony Thompson gene: DHTKD1 was added
gene: DHTKD1 was added to Miscellaneous Metabolic Disorders. Sources: NHS GMS
Mode of inheritance for gene: DHTKD1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: DHTKD1 were set to 27604308; 23141293; 29661920; 25860818
Phenotypes for gene: DHTKD1 were set to 2-aminoadipic 2-oxoadipic aciduria MIM#204750; Disorders of histidine, tryptophan or lysine metabolism
Review for gene: DHTKD1 was set to GREEN
Added comment: >10 cases with biallelic variants reported and null mouse model has severe metabolic abnormalities
Sources: NHS GMS
Miscellaneous Metabolic Disorders v0.309 TDO2 Bryony Thompson Marked gene: TDO2 as ready
Miscellaneous Metabolic Disorders v0.309 TDO2 Bryony Thompson Gene: tdo2 has been classified as Red List (Low Evidence).
Miscellaneous Metabolic Disorders v0.309 TDO2 Bryony Thompson gene: TDO2 was added
gene: TDO2 was added to Miscellaneous Metabolic Disorders. Sources: Literature
Mode of inheritance for gene: TDO2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TDO2 were set to 28285122; 27604308
Phenotypes for gene: TDO2 were set to Hypertryptophanemia MIM#600627; Disorders of histidine, tryptophan or lysine metabolism
Review for gene: TDO2 was set to RED
Added comment: Single case reported, biochemical phenotype of hypertryptophanemia and hyperserotoninemia does not appear to have significant clinical consequences
Sources: Literature
Miscellaneous Metabolic Disorders v0.308 HAL Bryony Thompson Marked gene: HAL as ready
Miscellaneous Metabolic Disorders v0.308 HAL Bryony Thompson Gene: hal has been classified as Amber List (Moderate Evidence).
Miscellaneous Metabolic Disorders v0.308 HAL Bryony Thompson Classified gene: HAL as Amber List (moderate evidence)
Miscellaneous Metabolic Disorders v0.308 HAL Bryony Thompson Added comment: Comment on list classification: Benign clinical condition
Miscellaneous Metabolic Disorders v0.308 HAL Bryony Thompson Gene: hal has been classified as Amber List (Moderate Evidence).
Miscellaneous Metabolic Disorders v0.307 HAL Bryony Thompson gene: HAL was added
gene: HAL was added to Miscellaneous Metabolic Disorders. Sources: Literature
Mode of inheritance for gene: HAL was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: HAL were set to 27604308; 15806399; 20156889
Phenotypes for gene: HAL were set to Histidinemia MIM#235800; Disorders of histidine, tryptophan or lysine metabolism
Review for gene: HAL was set to GREEN
Added comment: At least 4 individuals with heterozygous variants and 1 with biallelic variants with histidinemia, but no consistent clinical phenotype.
Sources: Literature
Miscellaneous Metabolic Disorders v0.306 SUGCT Bryony Thompson Marked gene: SUGCT as ready
Miscellaneous Metabolic Disorders v0.306 SUGCT Bryony Thompson Gene: sugct has been classified as Amber List (Moderate Evidence).
Miscellaneous Metabolic Disorders v0.306 SUGCT Bryony Thompson Classified gene: SUGCT as Amber List (moderate evidence)
Miscellaneous Metabolic Disorders v0.306 SUGCT Bryony Thompson Gene: sugct has been classified as Amber List (Moderate Evidence).
Miscellaneous Metabolic Disorders v0.305 OPLAH Bryony Thompson Marked gene: OPLAH as ready
Miscellaneous Metabolic Disorders v0.305 OPLAH Bryony Thompson Gene: oplah has been classified as Amber List (Moderate Evidence).
Miscellaneous Metabolic Disorders v0.305 OPLAH Bryony Thompson Classified gene: OPLAH as Amber List (moderate evidence)
Miscellaneous Metabolic Disorders v0.305 OPLAH Bryony Thompson Gene: oplah has been classified as Amber List (Moderate Evidence).
Miscellaneous Metabolic Disorders v0.304 DCXR Bryony Thompson Marked gene: DCXR as ready
Miscellaneous Metabolic Disorders v0.304 DCXR Bryony Thompson Gene: dcxr has been classified as Amber List (Moderate Evidence).
Miscellaneous Metabolic Disorders v0.304 DCXR Bryony Thompson Classified gene: DCXR as Amber List (moderate evidence)
Miscellaneous Metabolic Disorders v0.304 DCXR Bryony Thompson Gene: dcxr has been classified as Amber List (Moderate Evidence).
Miscellaneous Metabolic Disorders v0.303 CTH Bryony Thompson Classified gene: CTH as Amber List (moderate evidence)
Miscellaneous Metabolic Disorders v0.303 CTH Bryony Thompson Gene: cth has been classified as Amber List (Moderate Evidence).
Miscellaneous Metabolic Disorders v0.302 L2HGDH Bryony Thompson Marked gene: L2HGDH as ready
Miscellaneous Metabolic Disorders v0.302 L2HGDH Bryony Thompson Gene: l2hgdh has been classified as Green List (High Evidence).
Miscellaneous Metabolic Disorders v0.302 L2HGDH Bryony Thompson Classified gene: L2HGDH as Green List (high evidence)
Miscellaneous Metabolic Disorders v0.302 L2HGDH Bryony Thompson Gene: l2hgdh has been classified as Green List (High Evidence).
Miscellaneous Metabolic Disorders v0.301 L2HGDH Bryony Thompson gene: L2HGDH was added
gene: L2HGDH was added to Miscellaneous Metabolic Disorders. Sources: NHS GMS
Mode of inheritance for gene: L2HGDH was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: L2HGDH were set to 27604308; 15385440
Phenotypes for gene: L2HGDH were set to L-2-hydroxyglutaric aciduria MIM#236792; organic acidurias
Review for gene: L2HGDH was set to GREEN
gene: L2HGDH was marked as current diagnostic
Added comment: Well-established gene-disease association (see OMIM entry). L-2-hydroxyglutaric aciduria is classified as a metabolic disorder by the NIH GARD (https://rarediseases.info.nih.gov/diseases/diseases-by-category/14/metabolic-disorders), and is an organic aciduria.
Sources: NHS GMS
Miscellaneous Metabolic Disorders v0.300 SUGCT Bryony Thompson Classified gene: SUGCT as Red List (low evidence)
Miscellaneous Metabolic Disorders v0.300 SUGCT Bryony Thompson Added comment: Comment on list classification: Likely benign condition
Miscellaneous Metabolic Disorders v0.300 SUGCT Bryony Thompson Gene: sugct has been classified as Red List (Low Evidence).
Miscellaneous Metabolic Disorders v0.299 SUGCT Bryony Thompson gene: SUGCT was added
gene: SUGCT was added to Miscellaneous Metabolic Disorders. Sources: Literature
Mode of inheritance for gene: SUGCT was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SUGCT were set to 28766179; 18926513; 33483254; 32779420; 27604308
Phenotypes for gene: SUGCT were set to Glutaric aciduria III MIM#231690; Organic acidurias
Review for gene: SUGCT was set to GREEN
Added comment: At least 10 cases reported with glutaric aciduria 3. There is insufficient evidence to define any specific clinical phenotype as attributable to GA3. GA3 is a naturally occurring biochemical trait in mouse models.
Sources: Literature
Miscellaneous Metabolic Disorders v0.297 TTPA Bryony Thompson Marked gene: TTPA as ready
Miscellaneous Metabolic Disorders v0.297 TTPA Bryony Thompson Gene: ttpa has been classified as Green List (High Evidence).
Miscellaneous Metabolic Disorders v0.297 TTPA Bryony Thompson Classified gene: TTPA as Green List (high evidence)
Miscellaneous Metabolic Disorders v0.297 TTPA Bryony Thompson Gene: ttpa has been classified as Green List (High Evidence).
Miscellaneous Metabolic Disorders v0.296 TTPA Bryony Thompson gene: TTPA was added
gene: TTPA was added to Miscellaneous Metabolic Disorders. Sources: NHS GMS
Mode of inheritance for gene: TTPA was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TTPA were set to 27604308; 7719340
Phenotypes for gene: TTPA were set to Ataxia with isolated vitamin E deficiency MIM#277460; disorders of vitamins and cofactors
Review for gene: TTPA was set to GREEN
gene: TTPA was marked as current diagnostic
Added comment: Well-established gene-disease association (see OMIM entry). Ataxia with vitamin E deficiency (AVED) is classified as a metabolic disorder by the NIH GARD (https://rarediseases.info.nih.gov/diseases/diseases-by-category/14/metabolic-disorders), and is an inborn error of vitamin metabolism.
Sources: NHS GMS
Miscellaneous Metabolic Disorders v0.295 PEPD Bryony Thompson Marked gene: PEPD as ready
Miscellaneous Metabolic Disorders v0.295 PEPD Bryony Thompson Gene: pepd has been classified as Green List (High Evidence).
Miscellaneous Metabolic Disorders v0.295 PEPD Bryony Thompson Classified gene: PEPD as Green List (high evidence)
Miscellaneous Metabolic Disorders v0.295 PEPD Bryony Thompson Gene: pepd has been classified as Green List (High Evidence).
Miscellaneous Metabolic Disorders v0.294 PEPD Bryony Thompson gene: PEPD was added
gene: PEPD was added to Miscellaneous Metabolic Disorders. Sources: NHS GMS
Mode of inheritance for gene: PEPD was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PEPD were set to 27604308; 2365824
Phenotypes for gene: PEPD were set to Prolidase deficiency MIM#170100; disorders of peptide metabolism
Review for gene: PEPD was set to GREEN
gene: PEPD was marked as current diagnostic
Added comment: Well-established gene-disease association (see OMIM entry). Prolidase deficiency is classified as a metabolic disorder by the NIH GARD (https://rarediseases.info.nih.gov/diseases/diseases-by-category/14/metabolic-disorders), and is an inborn error of peptide metabolism.
Sources: NHS GMS
Miscellaneous Metabolic Disorders v0.293 PCK1 Bryony Thompson Marked gene: PCK1 as ready
Miscellaneous Metabolic Disorders v0.293 PCK1 Bryony Thompson Gene: pck1 has been classified as Green List (High Evidence).
Miscellaneous Metabolic Disorders v0.293 PCK1 Bryony Thompson Classified gene: PCK1 as Green List (high evidence)
Miscellaneous Metabolic Disorders v0.293 PCK1 Bryony Thompson Gene: pck1 has been classified as Green List (High Evidence).
Miscellaneous Metabolic Disorders v0.292 PCK1 Bryony Thompson gene: PCK1 was added
gene: PCK1 was added to Miscellaneous Metabolic Disorders. Sources: NHS GMS
Mode of inheritance for gene: PCK1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PCK1 were set to 24863970; 28216384; 26971250; 27604308
Phenotypes for gene: PCK1 were set to Phosphoenolpyruvate carboxykinase deficiency, cytosolic MIM#261680; Disorders of gluconeogenesis
Review for gene: PCK1 was set to GREEN
Added comment: 6 cases from 4 families with biallelic variants and supporting biochemical results and in vitro assays
Sources: NHS GMS
Miscellaneous Metabolic Disorders v0.291 PAH Bryony Thompson Marked gene: PAH as ready
Miscellaneous Metabolic Disorders v0.291 PAH Bryony Thompson Gene: pah has been classified as Green List (High Evidence).
Miscellaneous Metabolic Disorders v0.291 PAH Bryony Thompson Classified gene: PAH as Green List (high evidence)
Miscellaneous Metabolic Disorders v0.291 PAH Bryony Thompson Gene: pah has been classified as Green List (High Evidence).
Miscellaneous Metabolic Disorders v0.290 PAH Bryony Thompson gene: PAH was added
gene: PAH was added to Miscellaneous Metabolic Disorders. Sources: NHS GMS
Mode of inheritance for gene: PAH was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PAH were set to 27604308; 3008810
Phenotypes for gene: PAH were set to Phenylketonuria MIM#261600; Disorders of phenylalanine or tyrosine metabolism
Review for gene: PAH was set to GREEN
gene: PAH was marked as current diagnostic
Added comment: Well-established gene-disease association (see OMIM entry). Phenylketonuria is classified as a metabolic disorder by the NIH GARD (https://rarediseases.info.nih.gov/diseases/diseases-by-category/14/metabolic-disorders), and is an inborn error of phenylalanine metabolism.
Sources: NHS GMS
Miscellaneous Metabolic Disorders v0.289 PHGDH Zornitza Stark Marked gene: PHGDH as ready
Miscellaneous Metabolic Disorders v0.289 PHGDH Zornitza Stark Gene: phgdh has been classified as Green List (High Evidence).
Miscellaneous Metabolic Disorders v0.289 PHGDH Zornitza Stark Classified gene: PHGDH as Green List (high evidence)
Miscellaneous Metabolic Disorders v0.289 PHGDH Zornitza Stark Gene: phgdh has been classified as Green List (High Evidence).
Miscellaneous Metabolic Disorders v0.288 PHGDH Zornitza Stark gene: PHGDH was added
gene: PHGDH was added to Miscellaneous Metabolic Disorders. Sources: Expert list
Mode of inheritance for gene: PHGDH was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PHGDH were set to 24836451; 25152457; 11055895; 19235232
Phenotypes for gene: PHGDH were set to Neu-Laxova syndrome 1 256520; Phosphoglycerate dehydrogenase deficiency 601815
Review for gene: PHGDH was set to GREEN
Added comment: Well established gene-disease association, severity depends on amount of residual enzyme activity.
Sources: Expert list
Miscellaneous Metabolic Disorders v0.287 OPLAH Bryony Thompson Classified gene: OPLAH as Red List (low evidence)
Miscellaneous Metabolic Disorders v0.287 OPLAH Bryony Thompson Added comment: Comment on list classification: Appears to be a benign biochemical defect
Miscellaneous Metabolic Disorders v0.287 OPLAH Bryony Thompson Gene: oplah has been classified as Red List (Low Evidence).
Miscellaneous Metabolic Disorders v0.286 OPLAH Bryony Thompson gene: OPLAH was added
gene: OPLAH was added to Miscellaneous Metabolic Disorders. Sources: NHS GMS
Mode of inheritance for gene: OPLAH was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: OPLAH were set to 27604308; 27477828
Phenotypes for gene: OPLAH were set to 5-oxoprolinase deficiency MIM#260005; Disorders of the gamma-glutamyl cycle
Review for gene: OPLAH was set to GREEN
Added comment: Characterized as an inborn error of glutathione metabolism, but there is debate as to whether OPLAH deficiency represents a disorder or simply a biochemical condition with no adverse clinical effects because patients lack a consistent clinical picture apart from 5-oxoprolinuria. Clinical features were highly variable and in several sib pairs, did not segregate with 5-oxoprolinuria in 14 families from various backgrounds
Sources: NHS GMS
Miscellaneous Metabolic Disorders v0.285 PINK1 Zornitza Stark Marked gene: PINK1 as ready
Miscellaneous Metabolic Disorders v0.285 PINK1 Zornitza Stark Gene: pink1 has been classified as Green List (High Evidence).
Miscellaneous Metabolic Disorders v0.285 PINK1 Zornitza Stark Classified gene: PINK1 as Green List (high evidence)
Miscellaneous Metabolic Disorders v0.285 PINK1 Zornitza Stark Gene: pink1 has been classified as Green List (High Evidence).
Miscellaneous Metabolic Disorders v0.284 PINK1 Zornitza Stark gene: PINK1 was added
gene: PINK1 was added to Miscellaneous Metabolic Disorders. Sources: Expert list
Mode of inheritance for gene: PINK1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PINK1 were set to 27604308; 15087508; 16207731; 18003639; 18524835
Phenotypes for gene: PINK1 were set to Parkinson disease 6, early onset, MIM# 605909
Review for gene: PINK1 was set to GREEN
Added comment: The PINK1 gene encodes a mitochondrially located serine/threonine kinase. Multiple families reported.
Sources: Expert list
Miscellaneous Metabolic Disorders v0.283 PNP Zornitza Stark Marked gene: PNP as ready
Miscellaneous Metabolic Disorders v0.283 PNP Zornitza Stark Gene: pnp has been classified as Green List (High Evidence).
Miscellaneous Metabolic Disorders v0.283 PNP Zornitza Stark Classified gene: PNP as Green List (high evidence)
Miscellaneous Metabolic Disorders v0.283 PNP Zornitza Stark Gene: pnp has been classified as Green List (High Evidence).
Miscellaneous Metabolic Disorders v0.282 PNP Zornitza Stark gene: PNP was added
gene: PNP was added to Miscellaneous Metabolic Disorders. Sources: Expert list
Mode of inheritance for gene: PNP was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PNP were set to 3029074; 1384322; 11453975; 32695102; 32514656
Phenotypes for gene: PNP were set to Immunodeficiency due to purine nucleoside phosphorylase deficiency, MIM# 613179
Review for gene: PNP was set to GREEN
Added comment: Purine nucleoside phosphorylase deficiency is a rare autosomal recessive immunodeficiency disorder characterized mainly by decreased T-cell function. Some patients also have neurologic impairment.

Severity and age of onset dependent on amount of residual activity. Multiple families reported.
Sources: Expert list
Miscellaneous Metabolic Disorders v0.281 POR Zornitza Stark Marked gene: POR as ready
Miscellaneous Metabolic Disorders v0.281 POR Zornitza Stark Gene: por has been classified as Green List (High Evidence).
Miscellaneous Metabolic Disorders v0.281 POR Zornitza Stark Classified gene: POR as Green List (high evidence)
Miscellaneous Metabolic Disorders v0.281 POR Zornitza Stark Gene: por has been classified as Green List (High Evidence).
Miscellaneous Metabolic Disorders v0.280 POR Zornitza Stark gene: POR was added
gene: POR was added to Miscellaneous Metabolic Disorders. Sources: Expert list
Mode of inheritance for gene: POR was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: POR were set to 27604308; 14758361; 15793702; 15220035; 15483095; 16470797
Phenotypes for gene: POR were set to Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis 201750; Disordered steroidogenesis due to cytochrome P450 oxidoreductase 613571
Review for gene: POR was set to GREEN
Added comment: Well established gene-disease association.
Sources: Expert list
Miscellaneous Metabolic Disorders v0.279 PRODH Zornitza Stark Marked gene: PRODH as ready
Miscellaneous Metabolic Disorders v0.279 PRODH Zornitza Stark Gene: prodh has been classified as Green List (High Evidence).
Miscellaneous Metabolic Disorders v0.279 PRODH Zornitza Stark Classified gene: PRODH as Green List (high evidence)
Miscellaneous Metabolic Disorders v0.279 PRODH Zornitza Stark Gene: prodh has been classified as Green List (High Evidence).
Miscellaneous Metabolic Disorders v0.278 PRODH Zornitza Stark gene: PRODH was added
gene: PRODH was added to Miscellaneous Metabolic Disorders. Sources: Expert list
Mode of inheritance for gene: PRODH was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PRODH were set to 17412540; 12217952
Phenotypes for gene: PRODH were set to Hyperprolinemia, type I 239500; Proline oxidase deficiency
Review for gene: PRODH was set to GREEN
Added comment: At least 5 unrelated families reported.
Sources: Expert list
Miscellaneous Metabolic Disorders v0.277 PRPS1 Zornitza Stark Marked gene: PRPS1 as ready
Miscellaneous Metabolic Disorders v0.277 PRPS1 Zornitza Stark Gene: prps1 has been classified as Green List (High Evidence).
Miscellaneous Metabolic Disorders v0.277 PRPS1 Zornitza Stark Classified gene: PRPS1 as Green List (high evidence)
Miscellaneous Metabolic Disorders v0.277 PRPS1 Zornitza Stark Gene: prps1 has been classified as Green List (High Evidence).
Miscellaneous Metabolic Disorders v0.276 PRPS1 Zornitza Stark gene: PRPS1 was added
gene: PRPS1 was added to Miscellaneous Metabolic Disorders. Sources: Expert Review
Mode of inheritance for gene: PRPS1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: PRPS1 were set to 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
Review for gene: PRPS1 was set to GREEN
Added comment: Phosphoribosylpyrophosphate synthetase catalyzes the phosphoribosylation of ribose 5-phosphate to 5-phosphoribosyl-1-pyrophosphate, which is necessary for the de novo and salvage pathways of purine and pyrimidine biosynthesis.

Both increased and decreased enzyme activity has been linked to disease.
Sources: Expert Review
Miscellaneous Metabolic Disorders v0.275 PSAT1 Zornitza Stark Marked gene: PSAT1 as ready
Miscellaneous Metabolic Disorders v0.275 PSAT1 Zornitza Stark Gene: psat1 has been classified as Green List (High Evidence).
Miscellaneous Metabolic Disorders v0.275 PSAT1 Zornitza Stark Classified gene: PSAT1 as Green List (high evidence)
Miscellaneous Metabolic Disorders v0.275 PSAT1 Zornitza Stark Gene: psat1 has been classified as Green List (High Evidence).
Miscellaneous Metabolic Disorders v0.274 PSAT1 Zornitza Stark gene: PSAT1 was added
gene: PSAT1 was added to Miscellaneous Metabolic Disorders. Sources: Expert list
Mode of inheritance for gene: PSAT1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PSAT1 were set to 32077105
Phenotypes for gene: PSAT1 were set to Phosphoserine aminotransferase deficiency MIM#610992; Neu-Laxova syndrome 2 MIM#616038
Review for gene: PSAT1 was set to GREEN
Added comment: Severity of disease correlates with residual enzyme activity. Multiple families reported.
Sources: Expert list
Miscellaneous Metabolic Disorders v0.273 RBP4 Zornitza Stark Marked gene: RBP4 as ready
Miscellaneous Metabolic Disorders v0.273 RBP4 Zornitza Stark Gene: rbp4 has been classified as Green List (High Evidence).
Miscellaneous Metabolic Disorders v0.273 RBP4 Zornitza Stark Classified gene: RBP4 as Green List (high evidence)
Miscellaneous Metabolic Disorders v0.273 RBP4 Zornitza Stark Gene: rbp4 has been classified as Green List (High Evidence).
Miscellaneous Metabolic Disorders v0.272 RBP4 Zornitza Stark gene: RBP4 was added
gene: RBP4 was added to Miscellaneous Metabolic Disorders. Sources: Expert list
Mode of inheritance for gene: RBP4 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: RBP4 were set to 9888420; 23189188; 25910211; 32323592; 29847795; 29178648; 27892788
Phenotypes for gene: RBP4 were set to Microphthalmia, isolated, with coloboma 10, MIM# 616428; Retinal dystrophy, iris coloboma, and comedogenic acne syndrome, MIM# 615147
Review for gene: RBP4 was set to GREEN
Added comment: Retinol-binding protein (RBP) is a monomeric-binding protein that specifically transports retinol, the alcoholic form of vitamin A, in plasma from its main store site, the liver, to target cells.

At least 4 families with bi-allelic variants and at least 2 families with mono allelic variants. Functional data including animal models.
Sources: Expert list
Miscellaneous Metabolic Disorders v0.270 RPIA Zornitza Stark Marked gene: RPIA as ready
Miscellaneous Metabolic Disorders v0.270 RPIA Zornitza Stark Gene: rpia has been classified as Green List (High Evidence).
Miscellaneous Metabolic Disorders v0.270 RPIA Zornitza Stark Classified gene: RPIA as Green List (high evidence)
Miscellaneous Metabolic Disorders v0.270 RPIA Zornitza Stark Gene: rpia has been classified as Green List (High Evidence).
Miscellaneous Metabolic Disorders v0.269 RPIA Zornitza Stark gene: RPIA was added
gene: RPIA was added to Miscellaneous Metabolic Disorders. Sources: Expert list
Mode of inheritance for gene: RPIA was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: RPIA were set to 14988808; 31056085; 31247379
Phenotypes for gene: RPIA were set to Ribose 5-phosphate isomerase deficiency, MIM# 608611; Leukoencephalopathy
Review for gene: RPIA was set to GREEN
Added comment: Three unrelated families reported.
Sources: Expert list
Miscellaneous Metabolic Disorders v0.268 NT5C3A Bryony Thompson Marked gene: NT5C3A as ready
Miscellaneous Metabolic Disorders v0.268 NT5C3A Bryony Thompson Gene: nt5c3a has been classified as Green List (High Evidence).
Miscellaneous Metabolic Disorders v0.268 NT5C3A Bryony Thompson Classified gene: NT5C3A as Green List (high evidence)
Miscellaneous Metabolic Disorders v0.268 NT5C3A Bryony Thompson Gene: nt5c3a has been classified as Green List (High Evidence).
Miscellaneous Metabolic Disorders v0.267 NT5C3A Bryony Thompson gene: NT5C3A was added
gene: NT5C3A was added to Miscellaneous Metabolic Disorders. Sources: NHS GMS
Mode of inheritance for gene: NT5C3A was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NT5C3A were set to 11369620; 11369620
Phenotypes for gene: NT5C3A were set to Anemia, hemolytic, due to UMPH1 deficiency MIM#266120; disorder of pyrimidine metabolism
Review for gene: NT5C3A was set to GREEN
gene: NT5C3A was marked as current diagnostic
Added comment: Well-established gene-disease association(see OMIM entry). Hemolytic anemia due to UMPH1 deficiency is an inborn error of pyrimidine metabolism.
Sources: NHS GMS
Miscellaneous Metabolic Disorders v0.266 NSDHL Bryony Thompson Marked gene: NSDHL as ready
Miscellaneous Metabolic Disorders v0.266 NSDHL Bryony Thompson Gene: nsdhl has been classified as Green List (High Evidence).
Miscellaneous Metabolic Disorders v0.266 NSDHL Bryony Thompson Classified gene: NSDHL as Green List (high evidence)
Miscellaneous Metabolic Disorders v0.266 NSDHL Bryony Thompson Gene: nsdhl has been classified as Green List (High Evidence).
Miscellaneous Metabolic Disorders v0.265 NSDHL Bryony Thompson gene: NSDHL was added
gene: NSDHL was added to Miscellaneous Metabolic Disorders. Sources: NHS GMS
Mode of inheritance for gene: NSDHL was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Publications for gene: NSDHL were set to 27604308; 10710235
Phenotypes for gene: NSDHL were set to CHILD syndrome MIM#308050; Disorders of sterol biosynthesis
Review for gene: NSDHL was set to GREEN
gene: NSDHL was marked as current diagnostic
Added comment: Well-established gene-disease association(see OMIM entry). CHILD syndrome is classified as a metabolic disorder by NIH GARD (https://rarediseases.info.nih.gov/diseases/diseases-by-category/14/metabolic-disorders), and is an inborn error of sterol metabolism.
Sources: NHS GMS
Miscellaneous Metabolic Disorders v0.264 MVK Bryony Thompson Marked gene: MVK as ready
Miscellaneous Metabolic Disorders v0.264 MVK Bryony Thompson Gene: mvk has been classified as Green List (High Evidence).
Miscellaneous Metabolic Disorders v0.264 MVK Bryony Thompson Classified gene: MVK as Green List (high evidence)
Miscellaneous Metabolic Disorders v0.264 MVK Bryony Thompson Gene: mvk has been classified as Green List (High Evidence).
Miscellaneous Metabolic Disorders v0.263 MVK Bryony Thompson gene: MVK was added
gene: MVK was added to Miscellaneous Metabolic Disorders. Sources: NHS GMS
Mode of inheritance for gene: MVK was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MVK were set to 27604308; 1377680
Phenotypes for gene: MVK were set to Mevalonic aciduria MIM#610377; Disorders of sterol biosynthesis
Review for gene: MVK was set to GREEN
gene: MVK was marked as current diagnostic
Added comment: Well-established gene-disease association(see OMIM entry). Mevalonic aciduria is classified as a metabolic disorder by NIH GARD (https://rarediseases.info.nih.gov/diseases/diseases-by-category/14/metabolic-disorders), and is an inborn error of sterol metabolism.
Sources: NHS GMS
Miscellaneous Metabolic Disorders v0.262 GPHN Bryony Thompson Marked gene: GPHN as ready
Miscellaneous Metabolic Disorders v0.262 GPHN Bryony Thompson Gene: gphn has been classified as Green List (High Evidence).
Miscellaneous Metabolic Disorders v0.262 GPHN Bryony Thompson Classified gene: GPHN as Green List (high evidence)
Miscellaneous Metabolic Disorders v0.262 GPHN Bryony Thompson Gene: gphn has been classified as Green List (High Evidence).
Miscellaneous Metabolic Disorders v0.261 GPHN Bryony Thompson gene: GPHN was added
gene: GPHN was added to Miscellaneous Metabolic Disorders. Sources: NHS GMS
Mode of inheritance for gene: GPHN was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: GPHN were set to 27604308; 11095995; 22040219; 9812897
Phenotypes for gene: GPHN were set to Molybdenum cofactor deficiency C MIM#615501; Disorders of molybdenum cofactor metabolism
Review for gene: GPHN was set to GREEN
Added comment: 4 cases in 2 unrelated families and a supporting null mouse model.
Sources: NHS GMS
Miscellaneous Metabolic Disorders v0.260 MTTP Bryony Thompson Marked gene: MTTP as ready
Miscellaneous Metabolic Disorders v0.260 MTTP Bryony Thompson Gene: mttp has been classified as Green List (High Evidence).
Miscellaneous Metabolic Disorders v0.260 MTTP Bryony Thompson Classified gene: MTTP as Green List (high evidence)
Miscellaneous Metabolic Disorders v0.260 MTTP Bryony Thompson Gene: mttp has been classified as Green List (High Evidence).
Miscellaneous Metabolic Disorders v0.259 MTTP Bryony Thompson gene: MTTP was added
gene: MTTP was added to Miscellaneous Metabolic Disorders. Sources: NHS GMS
Mode of inheritance for gene: MTTP was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MTTP were set to 27604308; 8533758
Phenotypes for gene: MTTP were set to Abetalipoproteinemia MIM#200100; Inherited hypolipidaemias
Review for gene: MTTP was set to GREEN
gene: MTTP was marked as current diagnostic
Added comment: Well-established gene-disease association(see OMIM entry). is classified as a metabolic disorder by NIH GARD (https://rarediseases.info.nih.gov/diseases/diseases-by-category/14/metabolic-disorders), and is an inborn error of lipid metabolism.
Sources: NHS GMS
Miscellaneous Metabolic Disorders v0.258 MTRR Bryony Thompson Marked gene: MTRR as ready
Miscellaneous Metabolic Disorders v0.258 MTRR Bryony Thompson Gene: mtrr has been classified as Green List (High Evidence).
Miscellaneous Metabolic Disorders v0.258 MTRR Bryony Thompson Classified gene: MTRR as Green List (high evidence)
Miscellaneous Metabolic Disorders v0.258 MTRR Bryony Thompson Gene: mtrr has been classified as Green List (High Evidence).
Miscellaneous Metabolic Disorders v0.257 MTRR Bryony Thompson gene: MTRR was added
gene: MTRR was added to Miscellaneous Metabolic Disorders. Sources: NHS GMS
Mode of inheritance for gene: MTRR was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MTRR were set to 27604308; 9501215
Phenotypes for gene: MTRR were set to Homocystinuria-megaloblastic anemia, cbl E type MIM#236270; Disorders of the metabolism of sulphur amino acids
Review for gene: MTRR was set to GREEN
gene: MTRR was marked as current diagnostic
Added comment: Well-established gene-disease association(see OMIM entry). Homocystinuria is classified as a metabolic disorder by NIH GARD (https://rarediseases.info.nih.gov/diseases/diseases-by-category/14/metabolic-disorders), and is an inborn error of sulphur amino acid metabolism.
Sources: NHS GMS
Miscellaneous Metabolic Disorders v0.256 MTR Bryony Thompson Marked gene: MTR as ready
Miscellaneous Metabolic Disorders v0.256 MTR Bryony Thompson Gene: mtr has been classified as Green List (High Evidence).
Miscellaneous Metabolic Disorders v0.256 MTR Bryony Thompson Classified gene: MTR as Green List (high evidence)
Miscellaneous Metabolic Disorders v0.256 MTR Bryony Thompson Gene: mtr has been classified as Green List (High Evidence).
Miscellaneous Metabolic Disorders v0.255 MTR Bryony Thompson gene: MTR was added
gene: MTR was added to Miscellaneous Metabolic Disorders. Sources: NHS GMS
Mode of inheritance for gene: MTR was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MTR were set to 8968735; 27604308
Phenotypes for gene: MTR were set to Homocystinuria-megaloblastic anemia, cblG complementation type MIM#250940; Organic aciduria
Review for gene: MTR was set to GREEN
gene: MTR was marked as current diagnostic
Added comment: Well-established gene-disease association(see OMIM entry). Methionine synthase deficiency-cblG is classified as a metabolic disorder by NIH GARD (https://rarediseases.info.nih.gov/diseases/diseases-by-category/14/metabolic-disorders), and is an inborn error of sulphur amino acid metabolism.
Sources: NHS GMS
Miscellaneous Metabolic Disorders v0.254 MTHFR Bryony Thompson Marked gene: MTHFR as ready
Miscellaneous Metabolic Disorders v0.254 MTHFR Bryony Thompson Gene: mthfr has been classified as Green List (High Evidence).
Miscellaneous Metabolic Disorders v0.254 MTHFR Bryony Thompson Classified gene: MTHFR as Green List (high evidence)
Miscellaneous Metabolic Disorders v0.254 MTHFR Bryony Thompson Gene: mthfr has been classified as Green List (High Evidence).
Miscellaneous Metabolic Disorders v0.253 MTHFR Bryony Thompson gene: MTHFR was added
gene: MTHFR was added to Miscellaneous Metabolic Disorders. Sources: NHS GMS
Mode of inheritance for gene: MTHFR was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MTHFR were set to 27604308; 7920641
Phenotypes for gene: MTHFR were set to Homocystinuria due to MTHFR deficiency MIM#236250; Disorders of folate metabolism and transport
Review for gene: MTHFR was set to GREEN
gene: MTHFR was marked as current diagnostic
Added comment: Well-established gene-disease association(see OMIM entry). Homocystinuria due to MTHFR deficiency is classified as a metabolic disorder by NIH GARD (https://rarediseases.info.nih.gov/diseases/diseases-by-category/14/metabolic-disorders), and is an inborn error of folate metabolism.
Sources: NHS GMS
Miscellaneous Metabolic Disorders v0.252 MSMO1 Bryony Thompson Marked gene: MSMO1 as ready
Miscellaneous Metabolic Disorders v0.252 MSMO1 Bryony Thompson Gene: msmo1 has been classified as Green List (High Evidence).
Miscellaneous Metabolic Disorders v0.252 MSMO1 Bryony Thompson Classified gene: MSMO1 as Green List (high evidence)
Miscellaneous Metabolic Disorders v0.252 MSMO1 Bryony Thompson Gene: msmo1 has been classified as Green List (High Evidence).
Miscellaneous Metabolic Disorders v0.251 MSMO1 Bryony Thompson gene: MSMO1 was added
gene: MSMO1 was added to Miscellaneous Metabolic Disorders. Sources: NHS GMS
Mode of inheritance for gene: MSMO1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MSMO1 were set to 27604308; 21285510; 24144731; 33161406; 28673550
Phenotypes for gene: MSMO1 were set to Microcephaly, congenital cataract, and psoriasiform dermatitis MIM#616834; Disorders of the metabolism of sterols
Review for gene: MSMO1 was set to GREEN
gene: MSMO1 was marked as current diagnostic
Added comment: 5 cases in 4 unrelated families reported, with supporting biochemical assays demonstrating an inborn error of sterol metabolism.
Sources: NHS GMS
Miscellaneous Metabolic Disorders v0.250 MOCS2 Bryony Thompson Marked gene: MOCS2 as ready
Miscellaneous Metabolic Disorders v0.250 MOCS2 Bryony Thompson Gene: mocs2 has been classified as Green List (High Evidence).
Miscellaneous Metabolic Disorders v0.250 MOCS2 Bryony Thompson Classified gene: MOCS2 as Green List (high evidence)
Miscellaneous Metabolic Disorders v0.250 MOCS2 Bryony Thompson Gene: mocs2 has been classified as Green List (High Evidence).
Miscellaneous Metabolic Disorders v0.249 MOCS2 Bryony Thompson gene: MOCS2 was added
gene: MOCS2 was added to Miscellaneous Metabolic Disorders. Sources: NHS GMS
Mode of inheritance for gene: MOCS2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MOCS2 were set to 27604308; 10053004
Phenotypes for gene: MOCS2 were set to Molybdenum cofactor deficiency B MIM#252160; Disorders of molybdenum cofactor metabolism
Review for gene: MOCS2 was set to GREEN
gene: MOCS2 was marked as current diagnostic
Added comment: Well-established gene-disease association(see OMIM entry). Molybdenum cofactor deficiency is classified as a metabolic disorder by NIH GARD (https://rarediseases.info.nih.gov/diseases/diseases-by-category/14/metabolic-disorders), and is an inborn error of non-protein vitamin cofactor metabolism.
Sources: NHS GMS
Miscellaneous Metabolic Disorders v0.248 MOCS1 Bryony Thompson Marked gene: MOCS1 as ready
Miscellaneous Metabolic Disorders v0.248 MOCS1 Bryony Thompson Gene: mocs1 has been classified as Green List (High Evidence).
Miscellaneous Metabolic Disorders v0.248 MOCS1 Bryony Thompson Classified gene: MOCS1 as Green List (high evidence)
Miscellaneous Metabolic Disorders v0.248 MOCS1 Bryony Thompson Gene: mocs1 has been classified as Green List (High Evidence).
Miscellaneous Metabolic Disorders v0.247 MOCS1 Bryony Thompson gene: MOCS1 was added
gene: MOCS1 was added to Miscellaneous Metabolic Disorders. Sources: NHS GMS
Mode of inheritance for gene: MOCS1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MOCS1 were set to 27604308; 9731530
Phenotypes for gene: MOCS1 were set to Molybdenum cofactor deficiency A MIM#252150; Disorders of molybdenum cofactor metabolism
Review for gene: MOCS1 was set to GREEN
gene: MOCS1 was marked as current diagnostic
Added comment: Well-established gene-disease association(see OMIM entry). Molybdenum cofactor deficiency is classified as a metabolic disorder by NIH GARD (https://rarediseases.info.nih.gov/diseases/diseases-by-category/14/metabolic-disorders), and is an inborn error of non-protein vitamin cofactor metabolism.
Sources: NHS GMS
Miscellaneous Metabolic Disorders v0.246 MMADHC Bryony Thompson Marked gene: MMADHC as ready
Miscellaneous Metabolic Disorders v0.246 MMADHC Bryony Thompson Gene: mmadhc has been classified as Green List (High Evidence).
Miscellaneous Metabolic Disorders v0.246 MMADHC Bryony Thompson Classified gene: MMADHC as Green List (high evidence)
Miscellaneous Metabolic Disorders v0.246 MMADHC Bryony Thompson Gene: mmadhc has been classified as Green List (High Evidence).
Miscellaneous Metabolic Disorders v0.245 MMADHC Bryony Thompson gene: MMADHC was added
gene: MMADHC was added to Miscellaneous Metabolic Disorders. Sources: NHS GMS
Mode of inheritance for gene: MMADHC was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MMADHC were set to 27604308; 18385497
Phenotypes for gene: MMADHC were set to Homocystinuria, cblD type, variant 1 MIM#277410; Methylmalonic aciduria and homocystinuria, cblD type MIM#277410; Methylmalonic aciduria, cblD type, variant 2 MIM#277410; Disorders of cobalamin absorption, transport and metabolism
Review for gene: MMADHC was set to GREEN
gene: MMADHC was marked as current diagnostic
Added comment: Well-established gene-disease association(see OMIM entry). Methylmalonic acidemia with homocystinuria is classified as a metabolic disorder by NIH GARD (https://rarediseases.info.nih.gov/diseases/diseases-by-category/14/metabolic-disorders), and is an inborn error of vitamin metabolism.
Sources: NHS GMS
Miscellaneous Metabolic Disorders v0.244 MMACHC Bryony Thompson Marked gene: MMACHC as ready
Miscellaneous Metabolic Disorders v0.244 MMACHC Bryony Thompson Gene: mmachc has been classified as Green List (High Evidence).
Miscellaneous Metabolic Disorders v0.244 MMACHC Bryony Thompson Classified gene: MMACHC as Green List (high evidence)
Miscellaneous Metabolic Disorders v0.244 MMACHC Bryony Thompson Gene: mmachc has been classified as Green List (High Evidence).
Miscellaneous Metabolic Disorders v0.243 MMACHC Bryony Thompson gene: MMACHC was added
gene: MMACHC was added to Miscellaneous Metabolic Disorders. Sources: NHS GMS
Mode of inheritance for gene: MMACHC was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MMACHC were set to 27604308; 16311595
Phenotypes for gene: MMACHC were set to Methylmalonic aciduria and homocystinuria, cblC type MIM#277400; Disorders of cobalamin absorption, transport and metabolism
Review for gene: MMACHC was set to GREEN
gene: MMACHC was marked as current diagnostic
Added comment: Well-established gene-disease association(see OMIM entry). Methylmalonic acidemia with homocystinuria is classified as a metabolic disorder by NIH GARD (https://rarediseases.info.nih.gov/diseases/diseases-by-category/14/metabolic-disorders), and is an inborn error of vitamin metabolism.
Sources: NHS GMS
Miscellaneous Metabolic Disorders v0.242 SAR1B Zornitza Stark Marked gene: SAR1B as ready
Miscellaneous Metabolic Disorders v0.242 SAR1B Zornitza Stark Gene: sar1b has been classified as Green List (High Evidence).
Miscellaneous Metabolic Disorders v0.242 SAR1B Zornitza Stark Classified gene: SAR1B as Green List (high evidence)
Miscellaneous Metabolic Disorders v0.242 SAR1B Zornitza Stark Gene: sar1b has been classified as Green List (High Evidence).
Miscellaneous Metabolic Disorders v0.241 SAR1B Zornitza Stark gene: SAR1B was added
gene: SAR1B was added to Miscellaneous Metabolic Disorders. Sources: Expert Review
Mode of inheritance for gene: SAR1B was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SAR1B were set to 12692552
Phenotypes for gene: SAR1B were set to Chylomicron retention disease, MIM# 246700
Review for gene: SAR1B was set to GREEN
Added comment: Chylomicron retention disease is an autosomal recessive disorder of severe fat malabsorption associated with failure to thrive in infancy. Well established gene-disease association.
Sources: Expert Review
Miscellaneous Metabolic Disorders v0.240 SC5D Zornitza Stark Marked gene: SC5D as ready
Miscellaneous Metabolic Disorders v0.240 SC5D Zornitza Stark Gene: sc5d has been classified as Green List (High Evidence).
Miscellaneous Metabolic Disorders v0.240 SC5D Zornitza Stark Classified gene: SC5D as Green List (high evidence)
Miscellaneous Metabolic Disorders v0.240 SC5D Zornitza Stark Gene: sc5d has been classified as Green List (High Evidence).
Miscellaneous Metabolic Disorders v0.239 SC5D Zornitza Stark gene: SC5D was added
gene: SC5D was added to Miscellaneous Metabolic Disorders. Sources: Expert Review
Mode of inheritance for gene: SC5D was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SC5D were set to 17853487; 12189593; 12812989; 24142275
Phenotypes for gene: SC5D were set to Lathosterolosis, MIM# 607330
Review for gene: SC5D was set to GREEN
Added comment: Lathosterolosis (LATHOS) is an autosomal recessive disorder characterized by a recognizable pattern of multiple congenital anomalies involving axial and appendicular skeleton, liver, central nervous and urogenital systems, and lysosomal storage. It is caused by a defect of cholesterol biosynthesis due to sterol C5-desaturase deficiency.

More than 5 unrelated families reported.
Sources: Expert Review
Miscellaneous Metabolic Disorders v0.238 SI Zornitza Stark Marked gene: SI as ready
Miscellaneous Metabolic Disorders v0.238 SI Zornitza Stark Gene: si has been classified as Green List (High Evidence).
Miscellaneous Metabolic Disorders v0.238 SI Zornitza Stark Classified gene: SI as Green List (high evidence)
Miscellaneous Metabolic Disorders v0.238 SI Zornitza Stark Gene: si has been classified as Green List (High Evidence).
Miscellaneous Metabolic Disorders v0.237 SI Zornitza Stark gene: SI was added
gene: SI was added to Miscellaneous Metabolic Disorders. Sources: Expert Review
Mode of inheritance for gene: SI was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SI were set to Sucrase-isomaltase deficiency, congenital, MIM# 222900
Review for gene: SI was set to GREEN
Added comment: Well established gene-disease association, presents with osmotic diarrhoea.
Sources: Expert Review
Miscellaneous Metabolic Disorders v0.235 SLC2A1 Zornitza Stark Marked gene: SLC2A1 as ready
Miscellaneous Metabolic Disorders v0.235 SLC2A1 Zornitza Stark Gene: slc2a1 has been classified as Green List (High Evidence).
Miscellaneous Metabolic Disorders v0.235 SLC2A1 Zornitza Stark Classified gene: SLC2A1 as Green List (high evidence)
Miscellaneous Metabolic Disorders v0.235 SLC2A1 Zornitza Stark Gene: slc2a1 has been classified as Green List (High Evidence).
Miscellaneous Metabolic Disorders v0.234 SLC2A1 Zornitza Stark gene: SLC2A1 was added
gene: SLC2A1 was added to Miscellaneous Metabolic Disorders. Sources: Expert list
Mode of inheritance for gene: SLC2A1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: SLC2A1 were set to GLUT1 deficiency syndrome 1, infantile onset, severe, 606777; GLUT1 deficiency syndrome 2, childhood onset, 612126; Disorders of glucose transport
Review for gene: SLC2A1 was set to GREEN
Added comment: Well established gene disease association.
Sources: Expert list
Miscellaneous Metabolic Disorders v0.232 SLC30A10 Zornitza Stark Marked gene: SLC30A10 as ready
Miscellaneous Metabolic Disorders v0.232 SLC30A10 Zornitza Stark Gene: slc30a10 has been classified as Green List (High Evidence).
Miscellaneous Metabolic Disorders v0.232 SLC30A10 Zornitza Stark Classified gene: SLC30A10 as Green List (high evidence)
Miscellaneous Metabolic Disorders v0.232 SLC30A10 Zornitza Stark Gene: slc30a10 has been classified as Green List (High Evidence).
Miscellaneous Metabolic Disorders v0.231 SLC30A10 Zornitza Stark gene: SLC30A10 was added
gene: SLC30A10 was added to Miscellaneous Metabolic Disorders. Sources: Expert list
Mode of inheritance for gene: SLC30A10 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SLC30A10 were set to 22341972
Phenotypes for gene: SLC30A10 were set to Hypermanganesemia with dystonia 1, MIM# 613280
Review for gene: SLC30A10 was set to GREEN
Added comment: Hypermanganesemia with dystonia-1 (HMNDYT1) is an autosomal recessive metabolic disorder characterized by increased serum manganese, motor neurodegeneration with extrapyramidal features, polycythemia, and hepatic dysfunction, which leads to cirrhosis in some cases. Intellectual function is preserved.

More than 5 unrelated families reported.
Sources: Expert list
Miscellaneous Metabolic Disorders v0.230 SLC39A14 Zornitza Stark Marked gene: SLC39A14 as ready
Miscellaneous Metabolic Disorders v0.230 SLC39A14 Zornitza Stark Gene: slc39a14 has been classified as Green List (High Evidence).
Miscellaneous Metabolic Disorders v0.230 SLC39A14 Zornitza Stark Classified gene: SLC39A14 as Green List (high evidence)
Miscellaneous Metabolic Disorders v0.230 SLC39A14 Zornitza Stark Gene: slc39a14 has been classified as Green List (High Evidence).
Miscellaneous Metabolic Disorders v0.229 SLC39A14 Zornitza Stark gene: SLC39A14 was added
gene: SLC39A14 was added to Miscellaneous Metabolic Disorders. Sources: Expert list
Mode of inheritance for gene: SLC39A14 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SLC39A14 were set to 27231142; 29685658
Phenotypes for gene: SLC39A14 were set to Hypermanganesemia with dystonia 2, MIM# 617013
Review for gene: SLC39A14 was set to GREEN
Added comment: Hypermanganesemia with dystonia-2 (HMNDYT2) is an autosomal recessive neurodegenerative disorder characterized predominantly by loss of motor milestones in the first years of life. Affected individuals then develop rapidly progressive abnormal movements, including dystonia, spasticity, bulbar dysfunction, and variable features of parkinsonism, causing loss of ambulation. Cognition may be impaired, but is better preserved than motor function. The disorder results from abnormal accumulation of manganese (Mn), which is toxic to neurons. Chelation therapy, if started early, may provide clinical benefit.

More than 5 unrelated families reported.
Sources: Expert list
Miscellaneous Metabolic Disorders v0.228 SLC39A4 Zornitza Stark Marked gene: SLC39A4 as ready
Miscellaneous Metabolic Disorders v0.228 SLC39A4 Zornitza Stark Gene: slc39a4 has been classified as Green List (High Evidence).
Miscellaneous Metabolic Disorders v0.228 SLC39A4 Zornitza Stark Classified gene: SLC39A4 as Green List (high evidence)
Miscellaneous Metabolic Disorders v0.228 SLC39A4 Zornitza Stark Gene: slc39a4 has been classified as Green List (High Evidence).
Miscellaneous Metabolic Disorders v0.227 SLC39A4 Zornitza Stark gene: SLC39A4 was added
gene: SLC39A4 was added to Miscellaneous Metabolic Disorders. Sources: Expert list
Mode of inheritance for gene: SLC39A4 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SLC39A4 were set to 27604308; 12068297
Phenotypes for gene: SLC39A4 were set to Acrodermatitis enteropathica MIM#201100; (Disorder of zinc metabolism)
Review for gene: SLC39A4 was set to GREEN
Added comment: More than 3 unrelated families reported.
Sources: Expert list
Miscellaneous Metabolic Disorders v0.225 SLC46A1 Zornitza Stark Marked gene: SLC46A1 as ready
Miscellaneous Metabolic Disorders v0.225 SLC46A1 Zornitza Stark Gene: slc46a1 has been classified as Green List (High Evidence).
Miscellaneous Metabolic Disorders v0.225 SLC46A1 Zornitza Stark Classified gene: SLC46A1 as Green List (high evidence)
Miscellaneous Metabolic Disorders v0.225 SLC46A1 Zornitza Stark Gene: slc46a1 has been classified as Green List (High Evidence).
Miscellaneous Metabolic Disorders v0.224 SLC46A1 Zornitza Stark gene: SLC46A1 was added
gene: SLC46A1 was added to Miscellaneous Metabolic Disorders. Sources: Expert list
Mode of inheritance for gene: SLC46A1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SLC46A1 were set to 17446347; 17129779; 21333572
Phenotypes for gene: SLC46A1 were set to Folate malabsorption, hereditary, MIM# 229050
Review for gene: SLC46A1 was set to GREEN
Added comment: Hereditary folate malabsorption is an autosomal recessive disorder characterized by signs and symptoms of folate deficiency that appear within a few months after birth. Infants exhibit low blood and cerebrospinal fluid folate levels with megaloblastic anemia, diarrhea, immune deficiency, infections, and neurologic deficits. Treatment with folate supplementation results in resolution of the signs and symptoms. The disorder is caused by impaired intestinal folate absorption and impaired transport of folate into the central nervous system.

More than 5 unrelated families reported.
Sources: Expert list
Miscellaneous Metabolic Disorders v0.223 SLC5A1 Zornitza Stark Marked gene: SLC5A1 as ready
Miscellaneous Metabolic Disorders v0.223 SLC5A1 Zornitza Stark Gene: slc5a1 has been classified as Green List (High Evidence).
Miscellaneous Metabolic Disorders v0.223 SLC5A1 Zornitza Stark Classified gene: SLC5A1 as Green List (high evidence)
Miscellaneous Metabolic Disorders v0.223 SLC5A1 Zornitza Stark Gene: slc5a1 has been classified as Green List (High Evidence).
Miscellaneous Metabolic Disorders v0.222 SLC5A1 Zornitza Stark gene: SLC5A1 was added
gene: SLC5A1 was added to Miscellaneous Metabolic Disorders. Sources: Expert list
Mode of inheritance for gene: SLC5A1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SLC5A1 were set to 27604308; 2008213; 8195156; 20486940
Phenotypes for gene: SLC5A1 were set to Glucose/galactose malabsorption MIM# 606824; (Disorders of glucose transport)
Review for gene: SLC5A1 was set to GREEN
Added comment: At least 3 unrelated families reported, presentation is with osmotic diarrhoea.
Sources: Expert list
Miscellaneous Metabolic Disorders v0.219 SLC5A6 Zornitza Stark Marked gene: SLC5A6 as ready
Miscellaneous Metabolic Disorders v0.219 SLC5A6 Zornitza Stark Gene: slc5a6 has been classified as Green List (High Evidence).
Miscellaneous Metabolic Disorders v0.219 SLC5A6 Zornitza Stark Phenotypes for gene: SLC5A6 were changed from SLC5A6-related Neurodevelopmental Disorder to Neurodegeneration, infantile-onset, biotin-responsive, MIM# 618973
Miscellaneous Metabolic Disorders v0.218 SLC5A6 Zornitza Stark Classified gene: SLC5A6 as Green List (high evidence)
Miscellaneous Metabolic Disorders v0.218 SLC5A6 Zornitza Stark Gene: slc5a6 has been classified as Green List (High Evidence).
Miscellaneous Metabolic Disorders v0.217 SLC5A6 Zornitza Stark edited their review of gene: SLC5A6: Changed phenotypes: Neurodegeneration, infantile-onset, biotin-responsive, MIM# 618973
Miscellaneous Metabolic Disorders v0.217 SLC5A6 Zornitza Stark gene: SLC5A6 was added
gene: SLC5A6 was added to Miscellaneous Metabolic Disorders. Sources: Expert list
Mode of inheritance for gene: SLC5A6 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SLC5A6 were set to 29669219; 23104561; 31754459; 27904971; 31392107
Phenotypes for gene: SLC5A6 were set to SLC5A6-related Neurodevelopmental Disorder
Review for gene: SLC5A6 was set to GREEN
Added comment: At least 5 variants published in three unrelated famililies (4 cases total) with SLC5A6-related Neurodevelopmental Disorder, together with supportive functional studies (PMID 29669219; 23104561). One of the cases had mixed semiology seizures including focal dyscognitive, absence, tonic spasms and generalised convulsive seizures with electrographic features of encephalopathy with generalised and independent multifocal spike-wave discharges (PMID 31754459), another case had brain, immune, bone and intestinal dysfunction (PMID 27904971) and the third had metabolic dysfunction mimicking biotinidase deficiency (PMID 31392107). This condition could be treated with biotin supplementation and introduction of pantothenic acid supplementation (PMID 31392107).
Sources: Expert list
Miscellaneous Metabolic Disorders v0.216 SLC6A19 Zornitza Stark Marked gene: SLC6A19 as ready
Miscellaneous Metabolic Disorders v0.216 SLC6A19 Zornitza Stark Gene: slc6a19 has been classified as Green List (High Evidence).
Miscellaneous Metabolic Disorders v0.216 SLC6A19 Zornitza Stark Classified gene: SLC6A19 as Green List (high evidence)
Miscellaneous Metabolic Disorders v0.216 SLC6A19 Zornitza Stark Gene: slc6a19 has been classified as Green List (High Evidence).
Miscellaneous Metabolic Disorders v0.215 SLC6A19 Zornitza Stark gene: SLC6A19 was added
gene: SLC6A19 was added to Miscellaneous Metabolic Disorders. Sources: Expert list
Mode of inheritance for gene: SLC6A19 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: SLC6A19 were set to Hartnup disorder, MIM# 234500; Hyperglycinuria, MIM# 138500; Iminoglycinuria, MIM# 242600
Review for gene: SLC6A19 was set to GREEN
Added comment: Bi-allelic variants associated with Hartnup disorder, which is characterised by impaired transport of neutral amino acids across epithelial cells in renal proximal tubules and intestinal mucosa. Symptoms include transient manifestations of pellagra, cerebellar ataxia, and psychosis.

Hyperglycinuria/iminoglycinuria: The imino acids, proline and hydroxyproline, share a renal tubular reabsorptive mechanism with glycine. Iminoglycinuria is a benign inborn error of amino acid transport, and is also a normal finding in neonates and infants under 6 months of age (Chesney, 2001). Early studies of families with iminoglycinuria suggested genetic complexity, with homozygotes developing IG and heterozygotes manifesting only hyperglycinuria (HG)
Sources: Expert list
Miscellaneous Metabolic Disorders v0.214 TREX1 Zornitza Stark Marked gene: TREX1 as ready
Miscellaneous Metabolic Disorders v0.214 TREX1 Zornitza Stark Gene: trex1 has been classified as Green List (High Evidence).
Miscellaneous Metabolic Disorders v0.214 TREX1 Zornitza Stark Classified gene: TREX1 as Green List (high evidence)
Miscellaneous Metabolic Disorders v0.214 TREX1 Zornitza Stark Gene: trex1 has been classified as Green List (High Evidence).
Miscellaneous Metabolic Disorders v0.213 TREX1 Zornitza Stark gene: TREX1 was added
gene: TREX1 was added to Miscellaneous Metabolic Disorders. Sources: Expert list
Mode of inheritance for gene: TREX1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: TREX1 were set to Aicardi-Goutieres syndrome 1, dominant and recessive, MIM# 225750; Disorder of nucleotide metabolism
Review for gene: TREX1 was set to GREEN
Added comment: Well established gene-disease association.
Sources: Expert list
Miscellaneous Metabolic Disorders v0.211 MCEE Bryony Thompson Marked gene: MCEE as ready
Miscellaneous Metabolic Disorders v0.211 MCEE Bryony Thompson Gene: mcee has been classified as Green List (High Evidence).
Miscellaneous Metabolic Disorders v0.211 MCEE Bryony Thompson Classified gene: MCEE as Green List (high evidence)
Miscellaneous Metabolic Disorders v0.211 MCEE Bryony Thompson Gene: mcee has been classified as Green List (High Evidence).
Miscellaneous Metabolic Disorders v0.210 MCEE Bryony Thompson gene: MCEE was added
gene: MCEE was added to Miscellaneous Metabolic Disorders. Sources: NHS GMS
Mode of inheritance for gene: MCEE was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MCEE were set to 27604308; 16752391; 32521958; 31146325; 32719376; 30682498
Phenotypes for gene: MCEE were set to Methylmalonyl-CoA epimerase deficiency MIM#251120; Organic acidurias
Review for gene: MCEE was set to GREEN
gene: MCEE was marked as current diagnostic
Added comment: Over 10 cases with biallelic variants reported. Methylmalonic acidemia is classified as a metabolic disorder by NIH GARD (https://rarediseases.info.nih.gov/diseases/diseases-by-category/14/metabolic-disorders), and is an inborn error of amino acid and peptide metabolism.
Sources: NHS GMS
Miscellaneous Metabolic Disorders v0.209 MCCC2 Bryony Thompson Marked gene: MCCC2 as ready
Miscellaneous Metabolic Disorders v0.209 MCCC2 Bryony Thompson Gene: mccc2 has been classified as Green List (High Evidence).
Miscellaneous Metabolic Disorders v0.209 MCCC2 Bryony Thompson Classified gene: MCCC2 as Green List (high evidence)
Miscellaneous Metabolic Disorders v0.209 MCCC2 Bryony Thompson Gene: mccc2 has been classified as Green List (High Evidence).
Miscellaneous Metabolic Disorders v0.208 MCCC2 Bryony Thompson gene: MCCC2 was added
gene: MCCC2 was added to Miscellaneous Metabolic Disorders. Sources: NHS GMS
Mode of inheritance for gene: MCCC2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MCCC2 were set to 27604308; 11181649
Phenotypes for gene: MCCC2 were set to 3-Methylcrotonyl-CoA carboxylase 2 deficiency MIM#210210; Organic acidurias
Review for gene: MCCC2 was set to GREEN
gene: MCCC2 was marked as current diagnostic
Added comment: Well-established gene-disease association(see OMIM entry). 3-methylcrotonyl-CoA carboxylase deficiency (3-MCC deficiency)y is classified as a metabolic disorder by NIH GARD (https://rarediseases.info.nih.gov/diseases/diseases-by-category/14/metabolic-disorders), and is an inborn error of leucine metabolism.
Sources: NHS GMS
Miscellaneous Metabolic Disorders v0.207 MCCC1 Bryony Thompson Marked gene: MCCC1 as ready
Miscellaneous Metabolic Disorders v0.207 MCCC1 Bryony Thompson Gene: mccc1 has been classified as Green List (High Evidence).
Miscellaneous Metabolic Disorders v0.207 MCCC1 Bryony Thompson Classified gene: MCCC1 as Green List (high evidence)
Miscellaneous Metabolic Disorders v0.207 MCCC1 Bryony Thompson Gene: mccc1 has been classified as Green List (High Evidence).
Miscellaneous Metabolic Disorders v0.206 MCCC1 Bryony Thompson gene: MCCC1 was added
gene: MCCC1 was added to Miscellaneous Metabolic Disorders. Sources: NHS GMS
Mode of inheritance for gene: MCCC1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MCCC1 were set to 27604308; 11170888
Phenotypes for gene: MCCC1 were set to 3-Methylcrotonyl-CoA carboxylase 1 deficiency MIM#210200; Organic acidurias
Review for gene: MCCC1 was set to GREEN
gene: MCCC1 was marked as current diagnostic
Added comment: Well-established gene-disease association(see OMIM entry). 3-methylcrotonyl-CoA carboxylase deficiency (3-MCC deficiency)y is classified as a metabolic disorder by NIH GARD (https://rarediseases.info.nih.gov/diseases/diseases-by-category/14/metabolic-disorders), and is an inborn error of leucine metabolism.
Sources: NHS GMS
Miscellaneous Metabolic Disorders v0.205 MAT1A Bryony Thompson Marked gene: MAT1A as ready
Miscellaneous Metabolic Disorders v0.205 MAT1A Bryony Thompson Gene: mat1a has been classified as Green List (High Evidence).
Miscellaneous Metabolic Disorders v0.205 MAT1A Bryony Thompson Classified gene: MAT1A as Green List (high evidence)
Miscellaneous Metabolic Disorders v0.205 MAT1A Bryony Thompson Gene: mat1a has been classified as Green List (High Evidence).
Miscellaneous Metabolic Disorders v0.204 MAT1A Bryony Thompson gene: MAT1A was added
gene: MAT1A was added to Miscellaneous Metabolic Disorders. Sources: NHS GMS
Mode of inheritance for gene: MAT1A was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: MAT1A were set to 27604308; 7560086
Phenotypes for gene: MAT1A were set to 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
Review for gene: MAT1A was set to GREEN
gene: MAT1A was marked as current diagnostic
Added comment: Well-established gene-disease association(see OMIM entry). Methionine adenosyltransferase deficiency is classified as a metabolic disorder by NIH GARD (https://rarediseases.info.nih.gov/diseases/diseases-by-category/14/metabolic-disorders), and is an inborn error of methionine metabolism.
Sources: NHS GMS
Miscellaneous Metabolic Disorders v0.203 LMBRD1 Bryony Thompson Marked gene: LMBRD1 as ready
Miscellaneous Metabolic Disorders v0.203 LMBRD1 Bryony Thompson Gene: lmbrd1 has been classified as Green List (High Evidence).
Miscellaneous Metabolic Disorders v0.203 LMBRD1 Bryony Thompson Classified gene: LMBRD1 as Green List (high evidence)
Miscellaneous Metabolic Disorders v0.203 LMBRD1 Bryony Thompson Gene: lmbrd1 has been classified as Green List (High Evidence).
Miscellaneous Metabolic Disorders v0.202 LMBRD1 Bryony Thompson gene: LMBRD1 was added
gene: LMBRD1 was added to Miscellaneous Metabolic Disorders. Sources: NHS GMS
Mode of inheritance for gene: LMBRD1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: LMBRD1 were set to 19136951; 27604308
Phenotypes for gene: LMBRD1 were set to Methylmalonic aciduria and homocystinuria, cblF type MIM#277380; Disorders of cobalamin absorption, transport and metabolism
Review for gene: LMBRD1 was set to GREEN
gene: LMBRD1 was marked as current diagnostic
Added comment: Well-established gene-disease association (see OMIM entry). Methylmalonic aciduria and homocystinuria is a disorder of cobalamin metabolism.
Sources: NHS GMS
Miscellaneous Metabolic Disorders v0.201 LCT Bryony Thompson Marked gene: LCT as ready
Miscellaneous Metabolic Disorders v0.201 LCT Bryony Thompson Gene: lct has been classified as Green List (High Evidence).
Miscellaneous Metabolic Disorders v0.201 LCT Bryony Thompson Classified gene: LCT as Green List (high evidence)
Miscellaneous Metabolic Disorders v0.201 LCT Bryony Thompson Gene: lct has been classified as Green List (High Evidence).
Miscellaneous Metabolic Disorders v0.200 LCT Bryony Thompson gene: LCT was added
gene: LCT was added to Miscellaneous Metabolic Disorders. Sources: NHS GMS
Mode of inheritance for gene: LCT was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: LCT were set to 9758622; 27604308
Phenotypes for gene: LCT were set to Lactase deficiency, congenital MIM#223000; Other carbohydrate disorders
Review for gene: LCT was set to GREEN
gene: LCT was marked as current diagnostic
Added comment: Well-established gene-disease association (see OMIM entry). Lactase deficiency is classified as a metabolic disorder by the NIH GARD (https://rarediseases.info.nih.gov/diseases/diseases-by-category/14/metabolic-disorders), and is an inborn error of carbohydrate metabolism.
Sources: NHS GMS
Miscellaneous Metabolic Disorders v0.199 LBR Bryony Thompson Marked gene: LBR as ready
Miscellaneous Metabolic Disorders v0.199 LBR Bryony Thompson Gene: lbr has been classified as Green List (High Evidence).
Miscellaneous Metabolic Disorders v0.199 LBR Bryony Thompson Classified gene: LBR as Green List (high evidence)
Miscellaneous Metabolic Disorders v0.199 LBR Bryony Thompson Gene: lbr has been classified as Green List (High Evidence).
Miscellaneous Metabolic Disorders v0.198 LBR Bryony Thompson gene: LBR was added
gene: LBR was added to Miscellaneous Metabolic Disorders. Sources: NHS GMS
Mode of inheritance for gene: LBR was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: LBR were set to 12618959; 27604308
Phenotypes for gene: LBR were set to Greenberg skeletal dysplasia MIM#215140; Disorders of sterol biosynthesis
Review for gene: LBR was set to GREEN
gene: LBR was marked as current diagnostic
Added comment: Well-established gene-disease association (see OMIM entry). Greenberg dysplasia is classified as a metabolic disorder by the NIH GARD (https://rarediseases.info.nih.gov/diseases/diseases-by-category/14/metabolic-disorders), and is an inborn error of sterol metabolism.
Sources: NHS GMS
Miscellaneous Metabolic Disorders v0.197 LARS Bryony Thompson Marked gene: LARS as ready
Miscellaneous Metabolic Disorders v0.197 LARS Bryony Thompson Gene: lars has been classified as Green List (High Evidence).
Miscellaneous Metabolic Disorders v0.197 LARS Bryony Thompson Classified gene: LARS as Green List (high evidence)
Miscellaneous Metabolic Disorders v0.197 LARS Bryony Thompson Gene: lars has been classified as Green List (High Evidence).
Miscellaneous Metabolic Disorders v0.196 LARS Bryony Thompson gene: LARS was added
gene: LARS was added to Miscellaneous Metabolic Disorders. Sources: NHS GMS
Mode of inheritance for gene: LARS was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: LARS were set to 22607940; 30349989; 28774368
Phenotypes for gene: LARS were set to Infantile liver failure syndrome 1 MIM#615438; disorder of leucine metabolism
Review for gene: LARS was set to GREEN
Added comment: 7 families reported
Sources: NHS GMS
Miscellaneous Metabolic Disorders v0.195 KYNU Bryony Thompson Marked gene: KYNU as ready
Miscellaneous Metabolic Disorders v0.195 KYNU Bryony Thompson Gene: kynu has been classified as Green List (High Evidence).
Miscellaneous Metabolic Disorders v0.195 KYNU Bryony Thompson Classified gene: KYNU as Green List (high evidence)
Miscellaneous Metabolic Disorders v0.195 KYNU Bryony Thompson Gene: kynu has been classified as Green List (High Evidence).
Miscellaneous Metabolic Disorders v0.194 KYNU Bryony Thompson gene: KYNU was added
gene: KYNU was added to Miscellaneous Metabolic Disorders. Sources: NHS GMS
Mode of inheritance for gene: KYNU was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: KYNU were set to 17334708; 28792876; 31923704
Phenotypes for gene: KYNU were set to Hydroxykynureninuria MIM#236800; Vertebral, cardiac, renal, and limb defects syndrome 2 MIM#617661; Disorders of histidine, tryptophan or lysine metabolism
Review for gene: KYNU was set to GREEN
Added comment: At least 6 unrelated cases reported with biallelic variants, and a supporting null mouse model
Sources: NHS GMS
Miscellaneous Metabolic Disorders v0.193 ITPA Bryony Thompson Marked gene: ITPA as ready
Miscellaneous Metabolic Disorders v0.193 ITPA Bryony Thompson Gene: itpa has been classified as Green List (High Evidence).
Miscellaneous Metabolic Disorders v0.193 ITPA Bryony Thompson Classified gene: ITPA as Green List (high evidence)
Miscellaneous Metabolic Disorders v0.193 ITPA Bryony Thompson Gene: itpa has been classified as Green List (High Evidence).
Miscellaneous Metabolic Disorders v0.192 ITPA Bryony Thompson gene: ITPA was added
gene: ITPA was added to Miscellaneous Metabolic Disorders. Sources: NHS GMS
Mode of inheritance for gene: ITPA was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ITPA were set to 27604308; 12384777
Phenotypes for gene: ITPA were set to Inosine triphosphatase deficiency MIM#613850; Developmental and epileptic encephalopathy 35 MIM#616647; Disorders of purine metabolism
Review for gene: ITPA was set to GREEN
gene: ITPA was marked as current diagnostic
Added comment: Well-established gene-disease association (see OMIM entry). Inosine triphosphatase deficiency is considered an inborn error of purine metabolism.
Sources: NHS GMS
Miscellaneous Metabolic Disorders v0.191 HSD3B7 Bryony Thompson Marked gene: HSD3B7 as ready
Miscellaneous Metabolic Disorders v0.191 HSD3B7 Bryony Thompson Gene: hsd3b7 has been classified as Green List (High Evidence).
Miscellaneous Metabolic Disorders v0.191 HSD3B7 Bryony Thompson Classified gene: HSD3B7 as Green List (high evidence)
Miscellaneous Metabolic Disorders v0.191 HSD3B7 Bryony Thompson Gene: hsd3b7 has been classified as Green List (High Evidence).
Miscellaneous Metabolic Disorders v0.190 HSD3B7 Bryony Thompson gene: HSD3B7 was added
gene: HSD3B7 was added to Miscellaneous Metabolic Disorders. Sources: NHS GMS
Mode of inheritance for gene: HSD3B7 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: HSD3B7 were set to 11067870; 27604308
Phenotypes for gene: HSD3B7 were set to Bile acid synthesis defect, congenital, 1 MIM#607765; Disorders of bile acid biosynthesis
Review for gene: HSD3B7 was set to GREEN
gene: HSD3B7 was marked as current diagnostic
Added comment: Well-established gene-disease association (see OMIM entry). Congenital bile acid synthesis defect is classified as a metabolic disorder by the NIH GARD (https://rarediseases.info.nih.gov/diseases/diseases-by-category/14/metabolic-disorders), and is an inborn error of bile acid metabolism.
Sources: NHS GMS
Miscellaneous Metabolic Disorders v0.189 HS2ST1 Bryony Thompson Marked gene: HS2ST1 as ready
Miscellaneous Metabolic Disorders v0.189 HS2ST1 Bryony Thompson Gene: hs2st1 has been classified as Green List (High Evidence).
Miscellaneous Metabolic Disorders v0.189 HS2ST1 Bryony Thompson Classified gene: HS2ST1 as Green List (high evidence)
Miscellaneous Metabolic Disorders v0.189 HS2ST1 Bryony Thompson Gene: hs2st1 has been classified as Green List (High Evidence).
Miscellaneous Metabolic Disorders v0.188 HS2ST1 Bryony Thompson gene: HS2ST1 was added
gene: HS2ST1 was added to Miscellaneous Metabolic Disorders. Sources: NHS GMS
Mode of inheritance for gene: HS2ST1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: HS2ST1 were set to 33159882
Phenotypes for gene: HS2ST1 were set to Developmental delay and corpus callosum, skeletal, and renal abnormalities; disorder of glycosaminoglycan metabolism
Review for gene: HS2ST1 was set to GREEN
Added comment: 4 cases with biallelic variants from 3 unrelated families with heparan sulfate 2-O-sulfotransferase 1 deficiency in patient cells.
Sources: NHS GMS
Miscellaneous Metabolic Disorders v0.187 HPD Bryony Thompson Marked gene: HPD as ready
Miscellaneous Metabolic Disorders v0.187 HPD Bryony Thompson Gene: hpd has been classified as Green List (High Evidence).
Miscellaneous Metabolic Disorders v0.187 HPD Bryony Thompson Classified gene: HPD as Green List (high evidence)
Miscellaneous Metabolic Disorders v0.187 HPD Bryony Thompson Gene: hpd has been classified as Green List (High Evidence).
Miscellaneous Metabolic Disorders v0.186 HPD Bryony Thompson gene: HPD was added
gene: HPD was added to Miscellaneous Metabolic Disorders. Sources: NHS GMS
Mode of inheritance for gene: HPD was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: HPD were set to 10942115; 11073718; 27604308
Phenotypes for gene: HPD were set to Hawkinsinuria MIM#140350; Tyrosinemia, type III MIM#276710; Disorders of phenylalanine or tyrosine metabolism
Review for gene: HPD was set to GREEN
gene: HPD was marked as current diagnostic
Added comment: Well-established gene-disease association (see OMIM entry). 4-hydroxyphenylpyruvate dioxygenase deficiencies are classified as a metabolic disorder by the NIH GARD (https://rarediseases.info.nih.gov/diseases/diseases-by-category/14/metabolic-disorders), and is an inborn error of amino acid metabolism.
Sources: NHS GMS
Miscellaneous Metabolic Disorders v0.185 HGD Bryony Thompson Marked gene: HGD as ready
Miscellaneous Metabolic Disorders v0.185 HGD Bryony Thompson Gene: hgd has been classified as Green List (High Evidence).
Miscellaneous Metabolic Disorders v0.185 HGD Bryony Thompson Classified gene: HGD as Green List (high evidence)
Miscellaneous Metabolic Disorders v0.185 HGD Bryony Thompson Gene: hgd has been classified as Green List (High Evidence).
Miscellaneous Metabolic Disorders v0.184 HGD Bryony Thompson gene: HGD was added
gene: HGD was added to Miscellaneous Metabolic Disorders. Sources: NHS GMS
Mode of inheritance for gene: HGD was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: HGD were set to 8782815; 27604308
Phenotypes for gene: HGD were set to Alkaptonuria MIM#203500; Disorders of phenylalanine or tyrosine metabolism
Review for gene: HGD was set to GREEN
gene: HGD was marked as current diagnostic
Added comment: Well-established gene-disease association (see OMIM entry). Alkaptonuria is classified as a metabolic disorder by the NIH GARD (https://rarediseases.info.nih.gov/diseases/diseases-by-category/14/metabolic-disorders), and is an inborn error of amino acid metabolism.
Sources: NHS GMS
Miscellaneous Metabolic Disorders v0.183 HCFC1 Bryony Thompson Marked gene: HCFC1 as ready
Miscellaneous Metabolic Disorders v0.183 HCFC1 Bryony Thompson Gene: hcfc1 has been classified as Green List (High Evidence).
Miscellaneous Metabolic Disorders v0.183 HCFC1 Bryony Thompson Classified gene: HCFC1 as Green List (high evidence)
Miscellaneous Metabolic Disorders v0.183 HCFC1 Bryony Thompson Gene: hcfc1 has been classified as Green List (High Evidence).
Miscellaneous Metabolic Disorders v0.182 HCFC1 Bryony Thompson gene: HCFC1 was added
gene: HCFC1 was added to Miscellaneous Metabolic Disorders. Sources: NHS GMS
Mode of inheritance for gene: HCFC1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: HCFC1 were set to 24011988
Phenotypes for gene: HCFC1 were set to Mental retardation, X-linked 3 (methylmalonic acidemia and homocysteinemia, cblX type ) MIM#309541; disorder of cobalamin metabolism
Review for gene: HCFC1 was set to GREEN
gene: HCFC1 was marked as current diagnostic
Added comment: Well-established gene-disease association (see OMIM entry). Methylmalonic acidemia and homocysteinemia is classified as a metabolic disorder by the NIH GARD (https://rarediseases.info.nih.gov/diseases/diseases-by-category/14/metabolic-disorders), and is an inborn error of cobalamin metabolism.
Sources: NHS GMS
Miscellaneous Metabolic Disorders v0.181 HAAO Bryony Thompson Marked gene: HAAO as ready
Miscellaneous Metabolic Disorders v0.181 HAAO Bryony Thompson Gene: haao has been classified as Green List (High Evidence).
Miscellaneous Metabolic Disorders v0.181 HAAO Bryony Thompson Classified gene: HAAO as Green List (high evidence)
Miscellaneous Metabolic Disorders v0.181 HAAO Bryony Thompson Gene: haao has been classified as Green List (High Evidence).
Miscellaneous Metabolic Disorders v0.180 HAAO Bryony Thompson gene: HAAO was added
gene: HAAO was added to Miscellaneous Metabolic Disorders. Sources: NHS GMS
Mode of inheritance for gene: HAAO was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: HAAO were set to 28792876
Phenotypes for gene: HAAO were set to Vertebral, cardiac, renal, and limb defects syndrome 1 MIM#617660; NAD deficiency
Review for gene: HAAO was set to GREEN
Added comment: 2 unrelated cases reported with homozygous variants from consanguineous families, and a supporting mouse model.
Sources: NHS GMS
Miscellaneous Metabolic Disorders v0.179 GSS Bryony Thompson Marked gene: GSS as ready
Miscellaneous Metabolic Disorders v0.179 GSS Bryony Thompson Gene: gss has been classified as Green List (High Evidence).
Miscellaneous Metabolic Disorders v0.179 GSS Bryony Thompson Classified gene: GSS as Green List (high evidence)
Miscellaneous Metabolic Disorders v0.179 GSS Bryony Thompson Gene: gss has been classified as Green List (High Evidence).
Miscellaneous Metabolic Disorders v0.178 GSS Bryony Thompson gene: GSS was added
gene: GSS was added to Miscellaneous Metabolic Disorders. Sources: NHS GMS
Mode of inheritance for gene: GSS was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: GSS were set to 8896573
Phenotypes for gene: GSS were set to Glutathione synthetase deficiency MIM#266130; Hemolytic anemia due to glutathione synthetase deficiency MIM#231900; Disorders of the gamma-glutamyl cycle
Review for gene: GSS was set to GREEN
gene: GSS was marked as current diagnostic
Added comment: Well-established gene-disease association (see OMIM entry). Glutathione synthetase deficiency is classified as a metabolic disorder by the NIH GARD (https://rarediseases.info.nih.gov/diseases/diseases-by-category/14/metabolic-disorders), and is an inborn error of amino acid metabolism.
Sources: NHS GMS
Miscellaneous Metabolic Disorders v0.177 GPD1 Bryony Thompson Marked gene: GPD1 as ready
Miscellaneous Metabolic Disorders v0.177 GPD1 Bryony Thompson Gene: gpd1 has been classified as Green List (High Evidence).
Miscellaneous Metabolic Disorders v0.177 GPD1 Bryony Thompson Classified gene: GPD1 as Green List (high evidence)
Miscellaneous Metabolic Disorders v0.177 GPD1 Bryony Thompson Gene: gpd1 has been classified as Green List (High Evidence).
Miscellaneous Metabolic Disorders v0.176 GPD1 Bryony Thompson gene: GPD1 was added
gene: GPD1 was added to Miscellaneous Metabolic Disorders. Sources: NHS GMS
Mode of inheritance for gene: GPD1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: GPD1 were set to 32591995; 22226083; 33447932
Phenotypes for gene: GPD1 were set to Hypertriglyceridemia, transient infantile MIM#614480; glycerol-3-phosphate dehydrogenase deficiency
Review for gene: GPD1 was set to GREEN
gene: GPD1 was marked as current diagnostic
Added comment: At least 17 cases reported
Sources: NHS GMS
Miscellaneous Metabolic Disorders v0.175 GNMT Bryony Thompson Marked gene: GNMT as ready
Miscellaneous Metabolic Disorders v0.175 GNMT Bryony Thompson Gene: gnmt has been classified as Green List (High Evidence).
Miscellaneous Metabolic Disorders v0.175 GNMT Bryony Thompson Classified gene: GNMT as Green List (high evidence)
Miscellaneous Metabolic Disorders v0.175 GNMT Bryony Thompson Gene: gnmt has been classified as Green List (High Evidence).
Miscellaneous Metabolic Disorders v0.174 GNMT Bryony Thompson gene: GNMT was added
gene: GNMT was added to Miscellaneous Metabolic Disorders. Sources: NHS GMS
Mode of inheritance for gene: GNMT was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: GNMT were set to 11810299; 14739680; 17937387; 27207470
Phenotypes for gene: GNMT were set to Glycine N-methyltransferase deficiency MIM#606664; Disorders of the metabolism of sulphur amino acids
Review for gene: GNMT was set to GREEN
Added comment: Only 5 cases in 4 families reported thus far, and a supporting null mouse model. The clinical presentation of the reported cases (mild hepatomegaly and chronic elevation of the transaminase levels in the blood without liver disease) suggests a benign disorder, however hypermethioninemia is a reported risk factor for various neurological complications regardless of the cause.
Sources: NHS GMS
Miscellaneous Metabolic Disorders v0.173 GLYCTK Bryony Thompson Marked gene: GLYCTK as ready
Miscellaneous Metabolic Disorders v0.173 GLYCTK Bryony Thompson Gene: glyctk has been classified as Green List (High Evidence).
Miscellaneous Metabolic Disorders v0.173 GLYCTK Bryony Thompson changed review comment from: At least 4 unrelated cases reported
Sources: NHS GMS; to: At least 4 unrelated cases reported. D-glyceric aciduria is classified as a metabolic disorder by the NIH GARD (https://rarediseases.info.nih.gov/diseases/diseases-by-category/14/metabolic-disorders), and is an inborn error of amino acid metabolism
Sources: NHS GMS
Miscellaneous Metabolic Disorders v0.173 GLYCTK Bryony Thompson Classified gene: GLYCTK as Green List (high evidence)
Miscellaneous Metabolic Disorders v0.173 GLYCTK Bryony Thompson Gene: glyctk has been classified as Green List (High Evidence).
Miscellaneous Metabolic Disorders v0.172 GLYCTK Bryony Thompson gene: GLYCTK was added
gene: GLYCTK was added to Miscellaneous Metabolic Disorders. Sources: NHS GMS
Mode of inheritance for gene: GLYCTK was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: GLYCTK were set to 20949620; 31837836
Phenotypes for gene: GLYCTK were set to D-glyceric aciduria MIM#220120; Disorders of serine, glycine or glycerate metabolism
Review for gene: GLYCTK was set to GREEN
gene: GLYCTK was marked as current diagnostic
Added comment: At least 4 unrelated cases reported
Sources: NHS GMS
Miscellaneous Metabolic Disorders v0.171 GLUL Bryony Thompson Marked gene: GLUL as ready
Miscellaneous Metabolic Disorders v0.171 GLUL Bryony Thompson Gene: glul has been classified as Green List (High Evidence).
Miscellaneous Metabolic Disorders v0.171 GLUL Bryony Thompson Classified gene: GLUL as Green List (high evidence)
Miscellaneous Metabolic Disorders v0.171 GLUL Bryony Thompson Gene: glul has been classified as Green List (High Evidence).
Miscellaneous Metabolic Disorders v0.170 GLUL Bryony Thompson gene: GLUL was added
gene: GLUL was added to Miscellaneous Metabolic Disorders. Sources: NHS GMS
Mode of inheritance for gene: GLUL was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: GLUL were set to 16267323; 21353613; 33150193
Phenotypes for gene: GLUL were set to Glutamine deficiency, congenital MIM#610015; disorder of amino acid metabolism
Review for gene: GLUL was set to GREEN
gene: GLUL was marked as current diagnostic
Added comment: At least 5 cases in 4 families have been reported with glutamine deficiency.
Sources: NHS GMS
Miscellaneous Metabolic Disorders v0.169 GLS Bryony Thompson Marked STR: GLS as ready
Miscellaneous Metabolic Disorders v0.169 GLS Bryony Thompson Str: gls has been classified as Green List (High Evidence).
Miscellaneous Metabolic Disorders v0.169 GLS Bryony Thompson Classified STR: GLS as Green List (high evidence)
Miscellaneous Metabolic Disorders v0.169 GLS Bryony Thompson Str: gls has been classified as Green List (High Evidence).
Miscellaneous Metabolic Disorders v0.168 GLS Bryony Thompson STR: GLS was added
STR: GLS was added to Miscellaneous Metabolic Disorders. Sources: Literature
Mode of inheritance for STR: GLS was set to BIALLELIC, autosomal or pseudoautosomal
Publications for STR: GLS were set to 30970188
Phenotypes for STR: GLS were set to Global developmental delay, progressive ataxia, and elevated glutamine MIM#618412
Review for STR: GLS was set to GREEN
Added comment: NM_014905.5(GLS):c.-212_-210GCA[X]
3 unrelated cases with glutaminase deficiency were compound heterozygous (2) or homozygous for expansion of the repeat, 680-900 repeats in blood samples and 400-110 repeats in fibroblasts. In an analysis of 8295 genomes the median size of the repeat was 14 repeats (8-16 repeats range). There was 1 heterozygous allele with 90 repeats. Functional assays suggest the predominant effect of the repeats is at the level of histone modifications.
Sources: Literature
Miscellaneous Metabolic Disorders v0.167 GLS Bryony Thompson Marked gene: GLS as ready
Miscellaneous Metabolic Disorders v0.167 GLS Bryony Thompson Gene: gls has been classified as Green List (High Evidence).
Miscellaneous Metabolic Disorders v0.167 GLS Bryony Thompson Classified gene: GLS as Green List (high evidence)
Miscellaneous Metabolic Disorders v0.167 GLS Bryony Thompson Gene: gls has been classified as Green List (High Evidence).
Miscellaneous Metabolic Disorders v0.166 GLS Bryony Thompson Publications for gene: GLS were set to
Miscellaneous Metabolic Disorders v0.164 GLS Bryony Thompson gene: GLS was added
gene: GLS was added to Miscellaneous Metabolic Disorders. Sources: NHS GMS
Mode of inheritance for gene: GLS was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GLS were set to Developmental and epileptic encephalopathy 71 MIM#618328; Global developmental delay, progressive ataxia, and elevated glutamine MIM#618412; disorder of amino acid metabolism
Miscellaneous Metabolic Disorders v0.163 GLDC Bryony Thompson Marked gene: GLDC as ready
Miscellaneous Metabolic Disorders v0.163 GLDC Bryony Thompson Gene: gldc has been classified as Green List (High Evidence).
Miscellaneous Metabolic Disorders v0.163 GLDC Bryony Thompson Classified gene: GLDC as Green List (high evidence)
Miscellaneous Metabolic Disorders v0.163 GLDC Bryony Thompson Gene: gldc has been classified as Green List (High Evidence).
Miscellaneous Metabolic Disorders v0.162 GLDC Bryony Thompson gene: GLDC was added
gene: GLDC was added to Miscellaneous Metabolic Disorders. Sources: NHS GMS
Mode of inheritance for gene: GLDC was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: GLDC were set to 27604308; 2246863; 1634607
Phenotypes for gene: GLDC were set to Glycine encephalopathy MIM#605899; Disorders of serine, glycine or glycerate metabolism
Review for gene: GLDC was set to GREEN
gene: GLDC was marked as current diagnostic
Added comment: Well-established gene-disease association (see OMIM entry). Glycine encephalopathy is classified as a metabolic disorder by the NIH GARD (https://rarediseases.info.nih.gov/diseases/diseases-by-category/14/metabolic-disorders), and is an inborn error of amino acid metabolism.
Sources: NHS GMS
Miscellaneous Metabolic Disorders v0.161 GK Bryony Thompson Marked gene: GK as ready
Miscellaneous Metabolic Disorders v0.161 GK Bryony Thompson Gene: gk has been classified as Green List (High Evidence).
Miscellaneous Metabolic Disorders v0.161 GK Bryony Thompson Classified gene: GK as Green List (high evidence)
Miscellaneous Metabolic Disorders v0.161 GK Bryony Thompson Gene: gk has been classified as Green List (High Evidence).
Miscellaneous Metabolic Disorders v0.160 GK Bryony Thompson gene: GK was added
gene: GK was added to Miscellaneous Metabolic Disorders. Sources: NHS GMS
Mode of inheritance for gene: GK was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: GK were set to 27604308; 8499912; 8651297
Phenotypes for gene: GK were set to Glycerol kinase deficiency MIM#307030; Disorders of glycerol metabolism
Review for gene: GK was set to GREEN
gene: GK was marked as current diagnostic
Added comment: Well-established gene-disease association (see OMIM entry). Isolated glycerol kinase deficiency is classified as a metabolic disorder by the NIH GARD (https://rarediseases.info.nih.gov/diseases/diseases-by-category/14/metabolic-disorders), and is an inborn error of glycerol metabolism.
Sources: NHS GMS
Miscellaneous Metabolic Disorders v0.159 GIF Bryony Thompson Marked gene: GIF as ready
Miscellaneous Metabolic Disorders v0.159 GIF Bryony Thompson Gene: gif has been classified as Green List (High Evidence).
Miscellaneous Metabolic Disorders v0.159 GIF Bryony Thompson Classified gene: GIF as Green List (high evidence)
Miscellaneous Metabolic Disorders v0.159 GIF Bryony Thompson Gene: gif has been classified as Green List (High Evidence).
Miscellaneous Metabolic Disorders v0.158 GIF Bryony Thompson gene: GIF was added
gene: GIF was added to Miscellaneous Metabolic Disorders. Sources: NHS GMS
Mode of inheritance for gene: GIF was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: GIF were set to 27604308; 14695536; 14576042
Phenotypes for gene: GIF were set to Intrinsic factor deficiency MIM#261000; Disorders of cobalamin absorption, transport and metabolism
Review for gene: GIF was set to GREEN
gene: GIF was marked as current diagnostic
Added comment: Well-established gene-disease association (see OMIM entry). Intrinsic factor deficiency is classified as a metabolic disorder by the NIH GARD (https://rarediseases.info.nih.gov/diseases/diseases-by-category/14/metabolic-disorders), and is an inborn error of vitamin metabolism.
Sources: NHS GMS
Miscellaneous Metabolic Disorders v0.157 GCLC Bryony Thompson Marked gene: GCLC as ready
Miscellaneous Metabolic Disorders v0.157 GCLC Bryony Thompson Gene: gclc has been classified as Green List (High Evidence).
Miscellaneous Metabolic Disorders v0.157 GCLC Bryony Thompson Classified gene: GCLC as Green List (high evidence)
Miscellaneous Metabolic Disorders v0.157 GCLC Bryony Thompson Gene: gclc has been classified as Green List (High Evidence).
Miscellaneous Metabolic Disorders v0.156 GCLC Bryony Thompson gene: GCLC was added
gene: GCLC was added to Miscellaneous Metabolic Disorders. Sources: NHS GMS
Mode of inheritance for gene: GCLC was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: GCLC were set to 27604308; 10515893; 18024385; 11118286; 10733484; 12663448
Phenotypes for gene: GCLC were set to Hemolytic anemia due to gamma-glutamylcysteine synthetase deficiency MIM#230450; Disorders of the gamma-glutamyl cycle
Review for gene: GCLC was set to GREEN
gene: GCLC was marked as current diagnostic
Added comment: At least 9 cases reported and a mouse model. GCLC deficiency is an inborn error of amino acid and peptide metabolism.
Sources: NHS GMS
Miscellaneous Metabolic Disorders v0.155 GCDH Bryony Thompson Marked gene: GCDH as ready
Miscellaneous Metabolic Disorders v0.155 GCDH Bryony Thompson Gene: gcdh has been classified as Green List (High Evidence).
Miscellaneous Metabolic Disorders v0.155 GCDH Bryony Thompson Classified gene: GCDH as Green List (high evidence)
Miscellaneous Metabolic Disorders v0.155 GCDH Bryony Thompson Gene: gcdh has been classified as Green List (High Evidence).
Miscellaneous Metabolic Disorders v0.154 GCDH Bryony Thompson gene: GCDH was added
gene: GCDH was added to Miscellaneous Metabolic Disorders. Sources: NHS GMS
Mode of inheritance for gene: GCDH was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: GCDH were set to 27604308; 8541831; 8900227
Phenotypes for gene: GCDH were set to Glutaricaciduria, type I MIM#231670; Organic acidurias
Review for gene: GCDH was set to GREEN
gene: GCDH was marked as current diagnostic
Added comment: Well-established gene-disease association (see OMIM entry). Glutaric acidemia type I is classified as a metabolic disorder by the NIH GARD (https://rarediseases.info.nih.gov/diseases/diseases-by-category/14/metabolic-disorders), and is an inborn error of amino acid and peptide metabolism.
Sources: NHS GMS
Miscellaneous Metabolic Disorders v0.153 GAMT Bryony Thompson Marked gene: GAMT as ready
Miscellaneous Metabolic Disorders v0.153 GAMT Bryony Thompson Gene: gamt has been classified as Green List (High Evidence).
Miscellaneous Metabolic Disorders v0.153 GAMT Bryony Thompson Classified gene: GAMT as Green List (high evidence)
Miscellaneous Metabolic Disorders v0.153 GAMT Bryony Thompson Gene: gamt has been classified as Green List (High Evidence).
Miscellaneous Metabolic Disorders v0.152 GAMT Bryony Thompson gene: GAMT was added
gene: GAMT was added to Miscellaneous Metabolic Disorders. Sources: NHS GMS
Mode of inheritance for gene: GAMT was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: GAMT were set to 27604308; 8651275
Phenotypes for gene: GAMT were set to Cerebral creatine deficiency syndrome 2 MIM#612736; Disorders of creatinine metabolism
Review for gene: GAMT was set to GREEN
gene: GAMT was marked as current diagnostic
Added comment: Well-established gene-disease association (see OMIM entry). Guanidinoacetate methyltransferase (GAMT) deficiency is classified as a metabolic disorder by the NIH GARD (https://rarediseases.info.nih.gov/diseases/diseases-by-category/14/metabolic-disorders), and is an inborn error of creatine metabolism.
Sources: NHS GMS
Miscellaneous Metabolic Disorders v0.151 GALT Bryony Thompson Marked gene: GALT as ready
Miscellaneous Metabolic Disorders v0.151 GALT Bryony Thompson Gene: galt has been classified as Green List (High Evidence).
Miscellaneous Metabolic Disorders v0.151 GALT Bryony Thompson Classified gene: GALT as Green List (high evidence)
Miscellaneous Metabolic Disorders v0.151 GALT Bryony Thompson Gene: galt has been classified as Green List (High Evidence).
Miscellaneous Metabolic Disorders v0.150 GALT Bryony Thompson gene: GALT was added
gene: GALT was added to Miscellaneous Metabolic Disorders. Sources: NHS GMS
Mode of inheritance for gene: GALT was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: GALT were set to 27604308; 2011574
Phenotypes for gene: GALT were set to Galactosemia MIM#230400; Disorders of galactose metabolism
Review for gene: GALT was set to GREEN
gene: GALT was marked as current diagnostic
Added comment: Well-established gene-disease association (see OMIM entry). GALT deficiency is considered an inborn error of galactose metabolism.
Sources: NHS GMS
Miscellaneous Metabolic Disorders v0.149 GALM Bryony Thompson Marked gene: GALM as ready
Miscellaneous Metabolic Disorders v0.149 GALM Bryony Thompson Gene: galm has been classified as Green List (High Evidence).
Miscellaneous Metabolic Disorders v0.149 GALM Bryony Thompson Classified gene: GALM as Green List (high evidence)
Miscellaneous Metabolic Disorders v0.149 GALM Bryony Thompson Gene: galm has been classified as Green List (High Evidence).
Miscellaneous Metabolic Disorders v0.148 GALM Bryony Thompson gene: GALM was added
gene: GALM was added to Miscellaneous Metabolic Disorders. Sources: NHS GMS
Mode of inheritance for gene: GALM was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: GALM were set to 30451973; 30910422
Phenotypes for gene: GALM were set to Galactosemia IV MIM#618881; Disorders of galactose metabolism
Review for gene: GALM was set to GREEN
gene: GALM was marked as current diagnostic
Added comment: 8 unrelated cases with galactosaemia and supporting in vitro assays. GALM deficiency is an inborn error of galactose metabolism.
Sources: NHS GMS
Miscellaneous Metabolic Disorders v0.147 GALK1 Bryony Thompson Marked gene: GALK1 as ready
Miscellaneous Metabolic Disorders v0.147 GALK1 Bryony Thompson Gene: galk1 has been classified as Green List (High Evidence).
Miscellaneous Metabolic Disorders v0.147 GALK1 Bryony Thompson Classified gene: GALK1 as Green List (high evidence)
Miscellaneous Metabolic Disorders v0.147 GALK1 Bryony Thompson Gene: galk1 has been classified as Green List (High Evidence).
Miscellaneous Metabolic Disorders v0.146 GALK1 Bryony Thompson gene: GALK1 was added
gene: GALK1 was added to Miscellaneous Metabolic Disorders. Sources: NHS GMS
Mode of inheritance for gene: GALK1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: GALK1 were set to 27604308; 5129682
Phenotypes for gene: GALK1 were set to Galactokinase deficiency with cataracts MIM#230200; Disorders of galactose metabolism
Review for gene: GALK1 was set to GREEN
gene: GALK1 was marked as current diagnostic
Added comment: Well-established gene-disease association (see OMIM entry). Galactokinase deficiency is classified as a metabolic disorder by the NIH GARD (https://rarediseases.info.nih.gov/diseases/diseases-by-category/14/metabolic-disorders), and is an inborn error of galactose metabolism.
Sources: NHS GMS
Miscellaneous Metabolic Disorders v0.145 GALE Bryony Thompson Marked gene: GALE as ready
Miscellaneous Metabolic Disorders v0.145 GALE Bryony Thompson Gene: gale has been classified as Green List (High Evidence).
Miscellaneous Metabolic Disorders v0.145 GALE Bryony Thompson Classified gene: GALE as Green List (high evidence)
Miscellaneous Metabolic Disorders v0.145 GALE Bryony Thompson Gene: gale has been classified as Green List (High Evidence).
Miscellaneous Metabolic Disorders v0.144 GALE Bryony Thompson gene: GALE was added
gene: GALE was added to Miscellaneous Metabolic Disorders. Sources: NHS GMS
Mode of inheritance for gene: GALE was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: GALE were set to 27604308; 9700591
Phenotypes for gene: GALE were set to Galactose epimerase deficiency MIM#230350; Disorders of galactose metabolism
Review for gene: GALE was set to GREEN
gene: GALE was marked as current diagnostic
Added comment: Well-established gene-disease association (see OMIM entry). GALE deficiency is an inborn error of galactose metabolism.
Sources: NHS GMS
Miscellaneous Metabolic Disorders v0.143 FTCD Bryony Thompson Marked gene: FTCD as ready
Miscellaneous Metabolic Disorders v0.143 FTCD Bryony Thompson Gene: ftcd has been classified as Green List (High Evidence).
Miscellaneous Metabolic Disorders v0.143 FTCD Bryony Thompson Classified gene: FTCD as Green List (high evidence)
Miscellaneous Metabolic Disorders v0.143 FTCD Bryony Thompson Gene: ftcd has been classified as Green List (High Evidence).
Miscellaneous Metabolic Disorders v0.142 FTCD Bryony Thompson gene: FTCD was added
gene: FTCD was added to Miscellaneous Metabolic Disorders. Sources: NHS GMS
Mode of inheritance for gene: FTCD was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: FTCD were set to 27604308; 12815595
Phenotypes for gene: FTCD were set to Glutamate formiminotransferase deficiency MIM#229100; Disorders of histidine, tryptophan or lysine metabolism
Review for gene: FTCD was set to GREEN
gene: FTCD was marked as current diagnostic
Added comment: Well-established gene-disease association (see OMIM entry). Glutamate formiminotransferase deficiency is classified as a metabolic disorder by the NIH GARD (https://rarediseases.info.nih.gov/diseases/diseases-by-category/14/metabolic-disorders), and is an inborn error of amino acid metabolism.
Sources: NHS GMS
Miscellaneous Metabolic Disorders v0.141 FMO3 Bryony Thompson Marked gene: FMO3 as ready
Miscellaneous Metabolic Disorders v0.141 FMO3 Bryony Thompson Gene: fmo3 has been classified as Green List (High Evidence).
Miscellaneous Metabolic Disorders v0.141 FMO3 Bryony Thompson Classified gene: FMO3 as Green List (high evidence)
Miscellaneous Metabolic Disorders v0.141 FMO3 Bryony Thompson Gene: fmo3 has been classified as Green List (High Evidence).
Miscellaneous Metabolic Disorders v0.140 FMO3 Bryony Thompson gene: FMO3 was added
gene: FMO3 was added to Miscellaneous Metabolic Disorders. Sources: NHS GMS
Mode of inheritance for gene: FMO3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: FMO3 were set to 27604308; 9536088
Phenotypes for gene: FMO3 were set to Trimethylaminuria MIM#602079; Disorders and variants of other enzymes that oxidise xenobiotics
Review for gene: FMO3 was set to GREEN
gene: FMO3 was marked as current diagnostic
Added comment: Well-established gene-disease association (see OMIM entry). Trimethylaminuria is classified as a metabolic disorder by the NIH GARD (https://rarediseases.info.nih.gov/diseases/diseases-by-category/14/metabolic-disorders), and is an inborn error of the metabolism of xenobiotics.
Sources: NHS GMS
Miscellaneous Metabolic Disorders v0.139 AMN Bryony Thompson Publications for gene: AMN were set to 12590260
Miscellaneous Metabolic Disorders v0.138 AMN Bryony Thompson edited their review of gene: AMN: Changed publications: 12590260, 27604308
Miscellaneous Metabolic Disorders v0.138 AMN Bryony Thompson Marked gene: AMN as ready
Miscellaneous Metabolic Disorders v0.138 AMN Bryony Thompson Gene: amn has been classified as Green List (High Evidence).
Miscellaneous Metabolic Disorders v0.138 AMN Bryony Thompson Classified gene: AMN as Green List (high evidence)
Miscellaneous Metabolic Disorders v0.138 AMN Bryony Thompson Gene: amn has been classified as Green List (High Evidence).
Miscellaneous Metabolic Disorders v0.137 AMN Bryony Thompson gene: AMN was added
gene: AMN was added to Miscellaneous Metabolic Disorders. Sources: NHS GMS
Mode of inheritance for gene: AMN was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: AMN were set to 12590260
Phenotypes for gene: AMN were set to Imerslund-Grasbeck syndrome 2 MIM#618882; Disorders of cobalamin absorption, transport and metabolism
Review for gene: AMN was set to GREEN
gene: AMN was marked as current diagnostic
Added comment: Well-established gene-disease association (see OMIM entry). AMN-related intrinsic factor receptor deficiency (Imerslund-Grasbeck syndrome) is classified as a metabolic disorder by the NIH GARD (https://rarediseases.info.nih.gov/diseases/diseases-by-category/14/metabolic-disorders), and is an inborn error of vitamin metabolism.
Sources: NHS GMS
Miscellaneous Metabolic Disorders v0.136 ADAR Bryony Thompson Marked gene: ADAR as ready
Miscellaneous Metabolic Disorders v0.136 ADAR Bryony Thompson Gene: adar has been classified as Green List (High Evidence).
Miscellaneous Metabolic Disorders v0.136 ADAR Bryony Thompson Classified gene: ADAR as Green List (high evidence)
Miscellaneous Metabolic Disorders v0.136 ADAR Bryony Thompson Gene: adar has been classified as Green List (High Evidence).
Miscellaneous Metabolic Disorders v0.135 ADAR Bryony Thompson gene: ADAR was added
gene: ADAR was added to Miscellaneous Metabolic Disorders. Sources: NHS GMS
Mode of inheritance for gene: ADAR was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ADAR were set to 23001123; 27604308
Phenotypes for gene: ADAR were set to Aicardi-Goutieres syndrome 6 MIM#615010; Disorders of nucleotide metabolism
Review for gene: ADAR was set to GREEN
gene: ADAR was marked as current diagnostic
Added comment: Well-established gene-disease association (see OMIM entry). Aicardi-Goutieres syndrome is considered a disorder of nucleotide metabolism.
Sources: NHS GMS
Miscellaneous Metabolic Disorders v0.134 EPG5 Bryony Thompson Marked gene: EPG5 as ready
Miscellaneous Metabolic Disorders v0.134 EPG5 Bryony Thompson Gene: epg5 has been classified as Green List (High Evidence).
Miscellaneous Metabolic Disorders v0.134 EPG5 Bryony Thompson Classified gene: EPG5 as Green List (high evidence)
Miscellaneous Metabolic Disorders v0.134 EPG5 Bryony Thompson Gene: epg5 has been classified as Green List (High Evidence).
Miscellaneous Metabolic Disorders v0.133 EPG5 Bryony Thompson gene: EPG5 was added
gene: EPG5 was added to Miscellaneous Metabolic Disorders. Sources: NHS GMS
Mode of inheritance for gene: EPG5 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: EPG5 were set to 23222957; 26715604
Phenotypes for gene: EPG5 were set to Vici syndrome MIM#242840; Congenital disorders of autophagy
Review for gene: EPG5 was set to GREEN
gene: EPG5 was marked as current diagnostic
Added comment: Well-established gene-disease association (see OMIM entry). This gene is involved in autophagy, an intracellular pathway that deliver cytosolic cargo to lysosomes for degradation. Congenital disorders of autophagy are a class of inborn errors of neuro-metabolism.
Sources: NHS GMS
Miscellaneous Metabolic Disorders v0.132 DPYS Bryony Thompson Marked gene: DPYS as ready
Miscellaneous Metabolic Disorders v0.132 DPYS Bryony Thompson Gene: dpys has been classified as Green List (High Evidence).
Miscellaneous Metabolic Disorders v0.132 DPYS Bryony Thompson Classified gene: DPYS as Green List (high evidence)
Miscellaneous Metabolic Disorders v0.132 DPYS Bryony Thompson Gene: dpys has been classified as Green List (High Evidence).
Miscellaneous Metabolic Disorders v0.131 DPYS Bryony Thompson edited their review of gene: DPYS: Changed publications: 9718352
Miscellaneous Metabolic Disorders v0.131 DPYS Bryony Thompson gene: DPYS was added
gene: DPYS was added to Miscellaneous Metabolic Disorders. Sources: NHS GMS
Mode of inheritance for gene: DPYS was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: DPYS were set to Dihydropyrimidinuria MIM#222748; Disorders of pyrimidine metabolism
Review for gene: DPYS was set to GREEN
gene: DPYS was marked as current diagnostic
Added comment: Well-established gene-disease association (see OMIM entry). Dihydropyrimidinuria is classified as a metabolic disorder by the NIH GARD (https://rarediseases.info.nih.gov/diseases/diseases-by-category/14/metabolic-disorders), and is an inborn error of pyrimidine metabolism.
Sources: NHS GMS
Miscellaneous Metabolic Disorders v0.130 DPYD Bryony Thompson Marked gene: DPYD as ready
Miscellaneous Metabolic Disorders v0.130 DPYD Bryony Thompson Gene: dpyd has been classified as Green List (High Evidence).
Miscellaneous Metabolic Disorders v0.130 DPYD Bryony Thompson Classified gene: DPYD as Green List (high evidence)
Miscellaneous Metabolic Disorders v0.130 DPYD Bryony Thompson Gene: dpyd has been classified as Green List (High Evidence).
Miscellaneous Metabolic Disorders v0.129 DPYD Bryony Thompson gene: DPYD was added
gene: DPYD was added to Miscellaneous Metabolic Disorders. Sources: NHS GMS
Mode of inheritance for gene: DPYD was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: DPYD were set to 8051923
Phenotypes for gene: DPYD were set to Dihydropyrimidine dehydrogenase deficiency MIM#274270; 5-fluorouracil toxicity MIM#274270; Disorders of pyrimidine metabolism
Review for gene: DPYD was set to GREEN
gene: DPYD was marked as current diagnostic
Added comment: Well-established gene-disease association (see OMIM entry). Dihydropyrimidine dehydrogenase deficiency is classified as a metabolic disorder by the NIH GARD (https://rarediseases.info.nih.gov/diseases/diseases-by-category/14/metabolic-disorders), and is an inborn error of pyrimidine metabolism.
Sources: NHS GMS
Miscellaneous Metabolic Disorders v0.128 DHODH Bryony Thompson Marked gene: DHODH as ready
Miscellaneous Metabolic Disorders v0.128 DHODH Bryony Thompson Gene: dhodh has been classified as Green List (High Evidence).
Miscellaneous Metabolic Disorders v0.128 DHODH Bryony Thompson Classified gene: DHODH as Green List (high evidence)
Miscellaneous Metabolic Disorders v0.128 DHODH Bryony Thompson Gene: dhodh has been classified as Green List (High Evidence).
Miscellaneous Metabolic Disorders v0.127 DHODH Bryony Thompson gene: DHODH was added
gene: DHODH was added to Miscellaneous Metabolic Disorders. Sources: NHS GMS
Mode of inheritance for gene: DHODH was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: DHODH were set to 19915526
Phenotypes for gene: DHODH were set to Miller syndrome MIM#263750; Disorders of pyrimidine metabolism
Review for gene: DHODH was set to GREEN
gene: DHODH was marked as current diagnostic
Added comment: >3 cases reported. Biallelic variants cause an inborn error of pyrimidine metabolism.
Sources: NHS GMS
Miscellaneous Metabolic Disorders v0.126 DHCR7 Bryony Thompson Marked gene: DHCR7 as ready
Miscellaneous Metabolic Disorders v0.126 DHCR7 Bryony Thompson Gene: dhcr7 has been classified as Green List (High Evidence).
Miscellaneous Metabolic Disorders v0.126 DHCR7 Bryony Thompson Classified gene: DHCR7 as Green List (high evidence)
Miscellaneous Metabolic Disorders v0.126 DHCR7 Bryony Thompson Gene: dhcr7 has been classified as Green List (High Evidence).
Miscellaneous Metabolic Disorders v0.125 DHCR7 Bryony Thompson gene: DHCR7 was added
gene: DHCR7 was added to Miscellaneous Metabolic Disorders. Sources: NHS GMS
Mode of inheritance for gene: DHCR7 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: DHCR7 were set to 7560069; 9634533
Phenotypes for gene: DHCR7 were set to Smith-Lemli-Opitz syndrome MIM#270400; Disorders of sterol biosynthesis
Review for gene: DHCR7 was set to GREEN
gene: DHCR7 was marked as current diagnostic
Added comment: Well-established gene-disease association (see OMIM entry). Smith-Lemli-Opitz syndrome is classified as a metabolic disorder by the NIH GARD (https://rarediseases.info.nih.gov/diseases/diseases-by-category/14/metabolic-disorders), and is an inborn error of sterol metabolism.
Sources: NHS GMS
Miscellaneous Metabolic Disorders v0.124 DHCR24 Bryony Thompson Marked gene: DHCR24 as ready
Miscellaneous Metabolic Disorders v0.124 DHCR24 Bryony Thompson Gene: dhcr24 has been classified as Green List (High Evidence).
Miscellaneous Metabolic Disorders v0.124 DHCR24 Bryony Thompson Classified gene: DHCR24 as Green List (high evidence)
Miscellaneous Metabolic Disorders v0.124 DHCR24 Bryony Thompson Gene: dhcr24 has been classified as Green List (High Evidence).
Miscellaneous Metabolic Disorders v0.123 DHCR24 Bryony Thompson gene: DHCR24 was added
gene: DHCR24 was added to Miscellaneous Metabolic Disorders. Sources: NHS GMS
Mode of inheritance for gene: DHCR24 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: DHCR24 were set to 11519011; 21559050; 21671375
Phenotypes for gene: DHCR24 were set to Desmosterolosis MIM#602398; Disorders of the metabolism of sterols
Review for gene: DHCR24 was set to GREEN
gene: DHCR24 was marked as current diagnostic
Added comment: At least 4 families reported. Desmosterolosis is classified as a metabolic disorder by the NIH GARD (https://rarediseases.info.nih.gov/diseases/diseases-by-category/14/metabolic-disorders), and is an inborn error of sterol metabolism.
Sources: NHS GMS
Miscellaneous Metabolic Disorders v0.122 CTH Bryony Thompson edited their review of gene: CTH: Changed rating: GREEN
Miscellaneous Metabolic Disorders v0.122 DCXR Bryony Thompson Classified gene: DCXR as Red List (low evidence)
Miscellaneous Metabolic Disorders v0.122 DCXR Bryony Thompson Added comment: Comment on list classification: Clinically benign condition
Miscellaneous Metabolic Disorders v0.122 DCXR Bryony Thompson Gene: dcxr has been classified as Red List (Low Evidence).
Miscellaneous Metabolic Disorders v0.121 DCXR Bryony Thompson gene: DCXR was added
gene: DCXR was added to Miscellaneous Metabolic Disorders. Sources: NHS GMS
Mode of inheritance for gene: DCXR was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: DCXR were set to 22042873
Phenotypes for gene: DCXR were set to Pentosuria MIM#260800; Disorders of pentose metabolism
Review for gene: DCXR was set to GREEN
Added comment: At least 9 Ashkenazi Jewish probands reported. The condition is clinically benign
Sources: NHS GMS
Miscellaneous Metabolic Disorders v0.120 CYP7B1 Bryony Thompson Marked gene: CYP7B1 as ready
Miscellaneous Metabolic Disorders v0.120 CYP7B1 Bryony Thompson Gene: cyp7b1 has been classified as Green List (High Evidence).
Miscellaneous Metabolic Disorders v0.120 CYP7B1 Bryony Thompson Classified gene: CYP7B1 as Green List (high evidence)
Miscellaneous Metabolic Disorders v0.120 CYP7B1 Bryony Thompson Gene: cyp7b1 has been classified as Green List (High Evidence).
Miscellaneous Metabolic Disorders v0.119 CYP7B1 Bryony Thompson gene: CYP7B1 was added
gene: CYP7B1 was added to Miscellaneous Metabolic Disorders. Sources: NHS GMS
Mode of inheritance for gene: CYP7B1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CYP7B1 were set to 9802883; 18252231; 31337596
Phenotypes for gene: CYP7B1 were set to Bile acid synthesis defect, congenital, 3 MIM#613812; Spastic paraplegia 5A, autosomal recessive MIM#270800; Disorders of bile acid biosynthesis
Review for gene: CYP7B1 was set to GREEN
gene: CYP7B1 was marked as current diagnostic
Added comment: Well-established gene-disease association (see OMIM entry). CYP7B1 deficiency can cause an inborn error of bile acid metabolism.
Sources: NHS GMS
Miscellaneous Metabolic Disorders v0.118 CYP27A1 Bryony Thompson Marked gene: CYP27A1 as ready
Miscellaneous Metabolic Disorders v0.118 CYP27A1 Bryony Thompson Gene: cyp27a1 has been classified as Green List (High Evidence).
Miscellaneous Metabolic Disorders v0.118 CYP27A1 Bryony Thompson Classified gene: CYP27A1 as Green List (high evidence)
Miscellaneous Metabolic Disorders v0.118 CYP27A1 Bryony Thompson Gene: cyp27a1 has been classified as Green List (High Evidence).
Miscellaneous Metabolic Disorders v0.117 CYP27A1 Bryony Thompson gene: CYP27A1 was added
gene: CYP27A1 was added to Miscellaneous Metabolic Disorders. Sources: NHS GMS
Mode of inheritance for gene: CYP27A1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CYP27A1 were set to 2019602
Phenotypes for gene: CYP27A1 were set to Cerebrotendinous xanthomatosis MIM#213700; Disorders of bile acid biosynthesis
Review for gene: CYP27A1 was set to GREEN
gene: CYP27A1 was marked as current diagnostic
Added comment: Well-established gene-disease association (see OMIM entry). Cerebrotendinous xanthomatosis is classified as a metabolic disorder by the NIH GARD (https://rarediseases.info.nih.gov/diseases/diseases-by-category/14/metabolic-disorders), and is an inborn error of bile acid metabolism.
Sources: NHS GMS
Miscellaneous Metabolic Disorders v0.116 CUBN Bryony Thompson Marked gene: CUBN as ready
Miscellaneous Metabolic Disorders v0.116 CUBN Bryony Thompson Gene: cubn has been classified as Green List (High Evidence).
Miscellaneous Metabolic Disorders v0.116 CUBN Bryony Thompson Classified gene: CUBN as Green List (high evidence)
Miscellaneous Metabolic Disorders v0.116 CUBN Bryony Thompson Gene: cubn has been classified as Green List (High Evidence).
Miscellaneous Metabolic Disorders v0.115 CUBN Bryony Thompson gene: CUBN was added
gene: CUBN was added to Miscellaneous Metabolic Disorders. Sources: NHS GMS
Mode of inheritance for gene: CUBN was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CUBN were set to 10080186; 31613795
Phenotypes for gene: CUBN were set to Proteinuria, chronic benign MIM#618884; Imerslund-Grasbeck syndrome 1 MIM#261100; Intrinsic factor receptor deficiency due to CUBN mutations (Disorders of cobalamin absorption, transport and metabolism)
Review for gene: CUBN was set to GREEN
gene: CUBN was marked as current diagnostic
Added comment: Well-established gene-disease associations (see OMIM entry). CUBN deficiency causes an inborn error of cobalamin metabolism.
Sources: NHS GMS
Miscellaneous Metabolic Disorders v0.114 CTSC Bryony Thompson Marked gene: CTSC as ready
Miscellaneous Metabolic Disorders v0.114 CTSC Bryony Thompson Gene: ctsc has been classified as Green List (High Evidence).
Miscellaneous Metabolic Disorders v0.114 CTSC Bryony Thompson Classified gene: CTSC as Green List (high evidence)
Miscellaneous Metabolic Disorders v0.114 CTSC Bryony Thompson Gene: ctsc has been classified as Green List (High Evidence).
Miscellaneous Metabolic Disorders v0.113 CTSC Bryony Thompson gene: CTSC was added
gene: CTSC was added to Miscellaneous Metabolic Disorders. Sources: NHS GMS
Mode of inheritance for gene: CTSC was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CTSC were set to 10581027
Phenotypes for gene: CTSC were set to Haim-Munk syndrome MIM#245010; Papillon-Lefevre syndrome MIM#245000; other lysosomal disorder
Review for gene: CTSC was set to GREEN
gene: CTSC was marked as current diagnostic
Added comment: Well-established gene-disease associations (see OMIM entry). HMS and PLS are classified as metabolic disorders by the NIH GARD (https://rarediseases.info.nih.gov/diseases/diseases-by-category/14/metabolic-disorders).
Sources: NHS GMS
Miscellaneous Metabolic Disorders v0.112 CTH Bryony Thompson Marked gene: CTH as ready
Miscellaneous Metabolic Disorders v0.112 CTH Bryony Thompson Gene: cth has been classified as Red List (Low Evidence).
Miscellaneous Metabolic Disorders v0.112 CTH Bryony Thompson Classified gene: CTH as Red List (low evidence)
Miscellaneous Metabolic Disorders v0.112 CTH Bryony Thompson Added comment: Comment on list classification: Likely a benign biochemical anomaly not associated with disease
Miscellaneous Metabolic Disorders v0.112 CTH Bryony Thompson Gene: cth has been classified as Red List (Low Evidence).
Miscellaneous Metabolic Disorders v0.111 CTH Bryony Thompson gene: CTH was added
gene: CTH was added to Miscellaneous Metabolic Disorders. Sources: NHS GMS
Mode of inheritance for gene: CTH was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CTH were set to 12574942; 20584029; 24761004; 15151507
Phenotypes for gene: CTH were set to Cystathioninuria MIM#219500
Review for gene: CTH was set to RED
Added comment: >3 cases reported with cystathioninuria with no striking pathologic features. Due to inconsistency and wide variety of disease associations, it is considered to be a benign biochemical anomaly. Null mouse model demonstrates homocysteinemia/cystathioninemia but develop with no apparent abnormality.
Sources: NHS GMS
Miscellaneous Metabolic Disorders v0.110 CBS Bryony Thompson Marked gene: CBS as ready
Miscellaneous Metabolic Disorders v0.110 CBS Bryony Thompson Gene: cbs has been classified as Green List (High Evidence).
Miscellaneous Metabolic Disorders v0.110 CBS Bryony Thompson Classified gene: CBS as Green List (high evidence)
Miscellaneous Metabolic Disorders v0.110 CBS Bryony Thompson Gene: cbs has been classified as Green List (High Evidence).
Miscellaneous Metabolic Disorders v0.109 CBS Bryony Thompson gene: CBS was added
gene: CBS was added to Miscellaneous Metabolic Disorders. Sources: NHS GMS
Mode of inheritance for gene: CBS was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CBS were set to 7967489
Phenotypes for gene: CBS were set to Homocystinuria, B6-responsive and nonresponsive types MIM#236200; disorder of intracellular cobalamin metabolism
Review for gene: CBS was set to GREEN
gene: CBS was marked as current diagnostic
Added comment: Well-established gene-disease association (see OMIM entry). Homocystinuria due to CBS deficiency is classified as a metabolic disorder by the NIH GARD (https://rarediseases.info.nih.gov/diseases/diseases-by-category/14/metabolic-disorders), and is an inborn error of cobalamin metabolism.
Sources: NHS GMS
Miscellaneous Metabolic Disorders v0.108 ABCB4 Bryony Thompson Marked gene: ABCB4 as ready
Miscellaneous Metabolic Disorders v0.108 ABCB4 Bryony Thompson Gene: abcb4 has been classified as Green List (High Evidence).
Miscellaneous Metabolic Disorders v0.108 ABCB4 Bryony Thompson Classified gene: ABCB4 as Green List (high evidence)
Miscellaneous Metabolic Disorders v0.108 ABCB4 Bryony Thompson Gene: abcb4 has been classified as Green List (High Evidence).
Miscellaneous Metabolic Disorders v0.107 ABCB4 Bryony Thompson gene: ABCB4 was added
gene: ABCB4 was added to Miscellaneous Metabolic Disorders. Sources: NHS GMS
Mode of inheritance for gene: ABCB4 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ABCB4 were set to 8666348
Phenotypes for gene: ABCB4 were set to Cholestasis, progressive familial intrahepatic 3 MIM#602347; disorder of bile acid metabolism
Review for gene: ABCB4 was set to GREEN
gene: ABCB4 was marked as current diagnostic
Added comment: Well-established gene-disease association (see OMIM entry). PFIC3 is classified as a metabolic disorder by the NIH GARD (https://rarediseases.info.nih.gov/diseases/diseases-by-category/14/metabolic-disorders). ABCB4 deficiency causes an inborn error of bile acid biosynthesis.
Sources: NHS GMS
Miscellaneous Metabolic Disorders v0.106 ABCB11 Bryony Thompson Marked gene: ABCB11 as ready
Miscellaneous Metabolic Disorders v0.106 ABCB11 Bryony Thompson Gene: abcb11 has been classified as Green List (High Evidence).
Miscellaneous Metabolic Disorders v0.106 ABCB11 Bryony Thompson Classified gene: ABCB11 as Green List (high evidence)
Miscellaneous Metabolic Disorders v0.106 ABCB11 Bryony Thompson Gene: abcb11 has been classified as Green List (High Evidence).
Miscellaneous Metabolic Disorders v0.105 ABCB11 Bryony Thompson gene: ABCB11 was added
gene: ABCB11 was added to Miscellaneous Metabolic Disorders. Sources: NHS GMS
Mode of inheritance for gene: ABCB11 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ABCB11 were set to 9806540
Phenotypes for gene: ABCB11 were set to Cholestasis, progressive familial intrahepatic 2 MIM#601847; disorder of bile acid metabolism
Review for gene: ABCB11 was set to GREEN
gene: ABCB11 was marked as current diagnostic
Added comment: Well-established gene-disease association (see OMIM entry). PFIC2 is classified as a metabolic disorder by the NIH GARD (https://rarediseases.info.nih.gov/diseases/diseases-by-category/14/metabolic-disorders). ABCB11 deficiency causes an inborn error of bile acid biosynthesis.
Sources: NHS GMS
Miscellaneous Metabolic Disorders v0.104 STS Zornitza Stark Marked gene: STS as ready
Miscellaneous Metabolic Disorders v0.104 STS Zornitza Stark Gene: sts has been classified as Green List (High Evidence).
Miscellaneous Metabolic Disorders v0.104 STS Zornitza Stark Classified gene: STS as Green List (high evidence)
Miscellaneous Metabolic Disorders v0.104 STS Zornitza Stark Gene: sts has been classified as Green List (High Evidence).
Miscellaneous Metabolic Disorders v0.103 STS Zornitza Stark Tag SV/CNV tag was added to gene: STS.
Miscellaneous Metabolic Disorders v0.103 STS Zornitza Stark gene: STS was added
gene: STS was added to Miscellaneous Metabolic Disorders. Sources: Expert list
Mode of inheritance for gene: STS was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: STS were set to Ichthyosis, X-linked 308100; Sterol metabolism disorder
Review for gene: STS was set to GREEN
Added comment: Well established gene-disease association. CNVs common.
Sources: Expert list
Miscellaneous Metabolic Disorders v0.102 ATP8B1 Bryony Thompson Marked gene: ATP8B1 as ready
Miscellaneous Metabolic Disorders v0.102 ATP8B1 Bryony Thompson Gene: atp8b1 has been classified as Green List (High Evidence).
Miscellaneous Metabolic Disorders v0.102 ATP8B1 Bryony Thompson Classified gene: ATP8B1 as Green List (high evidence)
Miscellaneous Metabolic Disorders v0.102 ATP8B1 Bryony Thompson Gene: atp8b1 has been classified as Green List (High Evidence).
Miscellaneous Metabolic Disorders v0.101 ATP8B1 Bryony Thompson gene: ATP8B1 was added
gene: ATP8B1 was added to Miscellaneous Metabolic Disorders. Sources: NHS GMS
Mode of inheritance for gene: ATP8B1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ATP8B1 were set to 9500542
Phenotypes for gene: ATP8B1 were set to Cholestasis, progressive familial intrahepatic 1 MIM#211600; disorder of bile acid metabolism
Review for gene: ATP8B1 was set to GREEN
Added comment: Well-established gene-disease association (see OMIM entry). ATP8B1 deficiency can cause bile acid synthesis defects.
Sources: NHS GMS
Miscellaneous Metabolic Disorders v0.100 BTD Bryony Thompson Marked gene: BTD as ready
Miscellaneous Metabolic Disorders v0.100 BTD Bryony Thompson Gene: btd has been classified as Green List (High Evidence).
Miscellaneous Metabolic Disorders v0.100 BTD Bryony Thompson Classified gene: BTD as Green List (high evidence)
Miscellaneous Metabolic Disorders v0.100 BTD Bryony Thompson Gene: btd has been classified as Green List (High Evidence).
Miscellaneous Metabolic Disorders v0.99 BTD Bryony Thompson gene: BTD was added
gene: BTD was added to Miscellaneous Metabolic Disorders. Sources: NHS GMS
Mode of inheritance for gene: BTD was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: BTD were set to 7550325
Phenotypes for gene: BTD were set to Biotinidase deficiency MIM#253260; disorder of biotin metabolism
Review for gene: BTD was set to GREEN
gene: BTD was marked as current diagnostic
Added comment: Well-established gene-disease association (see OMIM entry). Deficiency causes an inborn error of biotin metabolism.
Sources: NHS GMS
Miscellaneous Metabolic Disorders v0.98 BCKDK Bryony Thompson Marked gene: BCKDK as ready
Miscellaneous Metabolic Disorders v0.98 BCKDK Bryony Thompson Gene: bckdk has been classified as Green List (High Evidence).
Miscellaneous Metabolic Disorders v0.98 BCKDK Bryony Thompson Classified gene: BCKDK as Green List (high evidence)
Miscellaneous Metabolic Disorders v0.98 BCKDK Bryony Thompson Gene: bckdk has been classified as Green List (High Evidence).
Miscellaneous Metabolic Disorders v0.97 BCKDK Bryony Thompson gene: BCKDK was added
gene: BCKDK was added to Miscellaneous Metabolic Disorders. Sources: NHS GMS
Mode of inheritance for gene: BCKDK was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: BCKDK were set to 22956686; 24449431
Phenotypes for gene: BCKDK were set to Branched-chain ketoacid dehydrogenase kinase deficiency MIM#614923; disorder of branched-chain amino acid metabolism
Review for gene: BCKDK was set to GREEN
Added comment: 5 unrelated families with homozygous variants and supporting functional assays on patient-derived cells.
Sources: NHS GMS
Miscellaneous Metabolic Disorders v0.96 BCAT2 Bryony Thompson Marked gene: BCAT2 as ready
Miscellaneous Metabolic Disorders v0.96 BCAT2 Bryony Thompson Gene: bcat2 has been classified as Green List (High Evidence).
Miscellaneous Metabolic Disorders v0.96 BCAT2 Bryony Thompson Classified gene: BCAT2 as Green List (high evidence)
Miscellaneous Metabolic Disorders v0.96 BCAT2 Bryony Thompson Gene: bcat2 has been classified as Green List (High Evidence).
Miscellaneous Metabolic Disorders v0.95 BCAT2 Bryony Thompson changed review comment from: A single case reported with compound heterozygous variants with functional studies demonstrating that the two variants resulted in decreased BCAT2 enzyme activity. Also, a null mouse model has a phenotype similar to human maple syrup urine disease.
Sources: NHS GMS; to: 6 cases from 5 unrelated families with homozygous or compound heterozygous variant, and supporting functional studies demonstrating decreased BCAT2 enzyme activity for some of the variants. Also, a null mouse model has a phenotype similar to human maple syrup urine disease.
Sources: NHS GMS
Miscellaneous Metabolic Disorders v0.95 BCAT2 Bryony Thompson edited their review of gene: BCAT2: Changed publications: 14755340, 25653144, 31177572
Miscellaneous Metabolic Disorders v0.95 BCAT2 Bryony Thompson edited their review of gene: BCAT2: Changed rating: GREEN; Changed publications: 31177572
Miscellaneous Metabolic Disorders v0.95 BCAT2 Bryony Thompson Classified gene: BCAT2 as Amber List (moderate evidence)
Miscellaneous Metabolic Disorders v0.95 BCAT2 Bryony Thompson Gene: bcat2 has been classified as Amber List (Moderate Evidence).
Miscellaneous Metabolic Disorders v0.94 BCAT2 Bryony Thompson gene: BCAT2 was added
gene: BCAT2 was added to Miscellaneous Metabolic Disorders. Sources: NHS GMS
Mode of inheritance for gene: BCAT2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: BCAT2 were set to 14755340; 25653144
Phenotypes for gene: BCAT2 were set to Hypervalinemia or hyperleucine-isoleucinemia MIM#618850; disorder of branched-chain amino acid metabolism
Review for gene: BCAT2 was set to AMBER
Added comment: A single case reported with compound heterozygous variants with functional studies demonstrating that the two variants resulted in decreased BCAT2 enzyme activity. Also, a null mouse model has a phenotype similar to human maple syrup urine disease.
Sources: NHS GMS
Miscellaneous Metabolic Disorders v0.93 BAAT Bryony Thompson Marked gene: BAAT as ready
Miscellaneous Metabolic Disorders v0.93 BAAT Bryony Thompson Gene: baat has been classified as Green List (High Evidence).
Miscellaneous Metabolic Disorders v0.93 BAAT Bryony Thompson Classified gene: BAAT as Green List (high evidence)
Miscellaneous Metabolic Disorders v0.93 BAAT Bryony Thompson Gene: baat has been classified as Green List (High Evidence).
Miscellaneous Metabolic Disorders v0.92 BAAT Bryony Thompson gene: BAAT was added
gene: BAAT was added to Miscellaneous Metabolic Disorders. Sources: NHS GMS
Mode of inheritance for gene: BAAT was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: BAAT were set to 12704386; 23415802
Phenotypes for gene: BAAT were set to Hypercholanemia, familial MIM#607748; disorder of bile acid metabolism
Review for gene: BAAT was set to GREEN
gene: BAAT was marked as current diagnostic
Added comment: PMID: 12704386 - A homozygous missense (M76V) was identified 5 cases from 3 families that were all of Lancaster County Old Order Amish descent. The variant was associated with lower levels of conjugation in a dose-dependent fashion, and homozygote individuals had no amino acid–conjugated bile acids.
PMID: 23415802 - 7 cases with homozygous variants from 4 unrelated families with features of a genetic defect in bile acid conjugation.
Sources: NHS GMS
Miscellaneous Metabolic Disorders v0.91 ATP7A Bryony Thompson Marked gene: ATP7A as ready
Miscellaneous Metabolic Disorders v0.91 ATP7A Bryony Thompson Gene: atp7a has been classified as Green List (High Evidence).
Miscellaneous Metabolic Disorders v0.91 ATP7A Bryony Thompson Classified gene: ATP7A as Green List (high evidence)
Miscellaneous Metabolic Disorders v0.91 ATP7A Bryony Thompson Gene: atp7a has been classified as Green List (High Evidence).
Miscellaneous Metabolic Disorders v0.90 ATP7A Bryony Thompson gene: ATP7A was added
gene: ATP7A was added to Miscellaneous Metabolic Disorders. Sources: NHS GMS
Mode of inheritance for gene: ATP7A was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: ATP7A were set to 7842019; 8981948
Phenotypes for gene: ATP7A were set to Menkes disease MIM#309400; Occipital horn syndrome MIM#304150; disorder of copper matabolism
Review for gene: ATP7A was set to GREEN
gene: ATP7A was marked as current diagnostic
Added comment: Well-established gene-disease association. Menkes disease and Occipital horn syndrome are caused by an inborn error of copper metabolism.
Sources: NHS GMS
Miscellaneous Metabolic Disorders v0.89 ATIC Bryony Thompson Marked gene: ATIC as ready
Miscellaneous Metabolic Disorders v0.89 ATIC Bryony Thompson Gene: atic has been classified as Green List (High Evidence).
Miscellaneous Metabolic Disorders v0.89 ATIC Bryony Thompson Classified gene: ATIC as Green List (high evidence)
Miscellaneous Metabolic Disorders v0.89 ATIC Bryony Thompson Gene: atic has been classified as Green List (High Evidence).
Miscellaneous Metabolic Disorders v0.88 ATIC Bryony Thompson gene: ATIC was added
gene: ATIC was added to Miscellaneous Metabolic Disorders. Sources: NHS GMS
Mode of inheritance for gene: ATIC was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ATIC were set to 15114530; 32557644
Phenotypes for gene: ATIC were set to AICA-ribosiduria due to ATIC deficiency MIM#608688; disorders of purine metabolism
Review for gene: ATIC was set to GREEN
Added comment: 4 cases from 3 independent families. Deficiency causes an inborn error of purine metabolism.
Sources: NHS GMS
Miscellaneous Metabolic Disorders v0.87 Zornitza Stark removed gene:SLC6A20 from the panel
Miscellaneous Metabolic Disorders v0.86 SLC6A20 Zornitza Stark Classified gene: SLC6A20 as Green List (high evidence)
Miscellaneous Metabolic Disorders v0.86 SLC6A20 Zornitza Stark Gene: slc6a20 has been classified as Green List (High Evidence).
Miscellaneous Metabolic Disorders v0.85 SLC6A20 Zornitza Stark gene: SLC6A20 was added
gene: SLC6A20 was added to Miscellaneous Metabolic Disorders. Sources: Expert list
Mode of inheritance for gene: SLC6A20 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: SLC6A20 were set to 24816252; 19033659
Phenotypes for gene: SLC6A20 were set to Hyperglycinuria, MIM# 138500
Review for gene: SLC6A20 was set to GREEN
Added comment: Renal stones.
Sources: Expert list
Miscellaneous Metabolic Disorders v0.84 SLC6A8 Zornitza Stark Marked gene: SLC6A8 as ready
Miscellaneous Metabolic Disorders v0.84 SLC6A8 Zornitza Stark Gene: slc6a8 has been classified as Green List (High Evidence).
Miscellaneous Metabolic Disorders v0.84 SLC6A8 Zornitza Stark Classified gene: SLC6A8 as Green List (high evidence)
Miscellaneous Metabolic Disorders v0.84 SLC6A8 Zornitza Stark Gene: slc6a8 has been classified as Green List (High Evidence).
Miscellaneous Metabolic Disorders v0.83 SLC6A8 Zornitza Stark gene: SLC6A8 was added
gene: SLC6A8 was added to Miscellaneous Metabolic Disorders. Sources: Expert list
Mode of inheritance for gene: SLC6A8 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: SLC6A8 were set to 27604308; 16738945
Phenotypes for gene: SLC6A8 were set to Cerebral creatine deficiency syndrome 1, MIM# 300352
Review for gene: SLC6A8 was set to GREEN
Added comment: Well established gene-disease association.
Sources: Expert list
Miscellaneous Metabolic Disorders v0.82 SPTLC2 Zornitza Stark Marked gene: SPTLC2 as ready
Miscellaneous Metabolic Disorders v0.82 SPTLC2 Zornitza Stark Gene: sptlc2 has been classified as Green List (High Evidence).
Miscellaneous Metabolic Disorders v0.82 SPTLC2 Zornitza Stark Classified gene: SPTLC2 as Green List (high evidence)
Miscellaneous Metabolic Disorders v0.82 SPTLC2 Zornitza Stark Gene: sptlc2 has been classified as Green List (High Evidence).
Miscellaneous Metabolic Disorders v0.81 SPTLC2 Zornitza Stark gene: SPTLC2 was added
gene: SPTLC2 was added to Miscellaneous Metabolic Disorders. Sources: Expert list
Mode of inheritance for gene: SPTLC2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: SPTLC2 were set to 27604308; 20920666
Phenotypes for gene: SPTLC2 were set to Neuropathy, hereditary sensory and autonomic, type IC, MIM# 613640; Serine palmitoyl transferase deficiency (Disorders of complex lipid synthesis)
Review for gene: SPTLC2 was set to GREEN
Added comment: Well established gene-disease association.
Sources: Expert list
Miscellaneous Metabolic Disorders v0.80 SPTLC1 Zornitza Stark Marked gene: SPTLC1 as ready
Miscellaneous Metabolic Disorders v0.80 SPTLC1 Zornitza Stark Gene: sptlc1 has been classified as Green List (High Evidence).
Miscellaneous Metabolic Disorders v0.80 SPTLC1 Zornitza Stark Classified gene: SPTLC1 as Green List (high evidence)
Miscellaneous Metabolic Disorders v0.80 SPTLC1 Zornitza Stark Gene: sptlc1 has been classified as Green List (High Evidence).
Miscellaneous Metabolic Disorders v0.79 SPTLC1 Zornitza Stark gene: SPTLC1 was added
gene: SPTLC1 was added to Miscellaneous Metabolic Disorders. Sources: Expert list
Mode of inheritance for gene: SPTLC1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: SPTLC1 were set to 27604308; 20097765; 21618344; 20097765; 30420926
Phenotypes for gene: SPTLC1 were set to Neuropathy, hereditary sensory and autonomic, type IA, MIM# 162400; Serine palmitoyl transferase deficiency (Disorders of complex lipid synthesis)
Review for gene: SPTLC1 was set to GREEN
Added comment: Well established gene-disease association.
Sources: Expert list
Miscellaneous Metabolic Disorders v0.78 SUOX Zornitza Stark edited their review of gene: SUOX: Changed publications: 9428520, 15952210, 31127934; Changed phenotypes: Sulfite oxidase deficiency, MIM# 272300
Miscellaneous Metabolic Disorders v0.78 SUOX Zornitza Stark Marked gene: SUOX as ready
Miscellaneous Metabolic Disorders v0.78 SUOX Zornitza Stark Gene: suox has been classified as Green List (High Evidence).
Miscellaneous Metabolic Disorders v0.78 SUOX Zornitza Stark Classified gene: SUOX as Green List (high evidence)
Miscellaneous Metabolic Disorders v0.78 SUOX Zornitza Stark Gene: suox has been classified as Green List (High Evidence).
Miscellaneous Metabolic Disorders v0.77 SUOX Zornitza Stark gene: SUOX was added
gene: SUOX was added to Miscellaneous Metabolic Disorders. Sources: Expert list
Mode of inheritance for gene: SUOX was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SUOX were set to 9428520; 15952210; 31127934]
Phenotypes for gene: SUOX were set to Sulfite oxidase deficiency, MIM# 272300
Review for gene: SUOX was set to GREEN
Added comment: More than 5 unrelated families reported.
Sources: Expert list
Miscellaneous Metabolic Disorders v0.76 TALDO1 Zornitza Stark Marked gene: TALDO1 as ready
Miscellaneous Metabolic Disorders v0.76 TALDO1 Zornitza Stark Gene: taldo1 has been classified as Green List (High Evidence).
Miscellaneous Metabolic Disorders v0.76 TALDO1 Zornitza Stark Classified gene: TALDO1 as Green List (high evidence)
Miscellaneous Metabolic Disorders v0.76 TALDO1 Zornitza Stark Gene: taldo1 has been classified as Green List (High Evidence).
Miscellaneous Metabolic Disorders v0.75 TALDO1 Zornitza Stark gene: TALDO1 was added
gene: TALDO1 was added to Miscellaneous Metabolic Disorders. Sources: Expert list
Mode of inheritance for gene: TALDO1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TALDO1 were set to Transaldolase deficiency , MIM#606003
Review for gene: TALDO1 was set to GREEN
Added comment: Well established gene-disease association.
Sources: Expert list
Miscellaneous Metabolic Disorders v0.74 TAT Zornitza Stark Marked gene: TAT as ready
Miscellaneous Metabolic Disorders v0.74 TAT Zornitza Stark Gene: tat has been classified as Green List (High Evidence).
Miscellaneous Metabolic Disorders v0.74 TAT Zornitza Stark Classified gene: TAT as Green List (high evidence)
Miscellaneous Metabolic Disorders v0.74 TAT Zornitza Stark Gene: tat has been classified as Green List (High Evidence).
Miscellaneous Metabolic Disorders v0.73 TAT Zornitza Stark gene: TAT was added
gene: TAT was added to Miscellaneous Metabolic Disorders. Sources: Expert list
Mode of inheritance for gene: TAT was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TAT were set to Tyrosinemia, type II, MIM# 276600
Review for gene: TAT was set to GREEN
Added comment: Well established gene-disease association.
Sources: Expert list
Miscellaneous Metabolic Disorders v0.72 TCN2 Zornitza Stark Marked gene: TCN2 as ready
Miscellaneous Metabolic Disorders v0.72 TCN2 Zornitza Stark Gene: tcn2 has been classified as Green List (High Evidence).
Miscellaneous Metabolic Disorders v0.72 TCN2 Zornitza Stark Classified gene: TCN2 as Green List (high evidence)
Miscellaneous Metabolic Disorders v0.72 TCN2 Zornitza Stark Gene: tcn2 has been classified as Green List (High Evidence).
Miscellaneous Metabolic Disorders v0.71 TCN2 Zornitza Stark gene: TCN2 was added
gene: TCN2 was added to Miscellaneous Metabolic Disorders. Sources: Expert list
Mode of inheritance for gene: TCN2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TCN2 were set to 19373259
Phenotypes for gene: TCN2 were set to Transcobalamin II deficiency, 275350
Review for gene: TCN2 was set to GREEN
Added comment: Well established gene-disease association.
Sources: Expert list
Miscellaneous Metabolic Disorders v0.70 UGT1A1 Zornitza Stark Marked gene: UGT1A1 as ready
Miscellaneous Metabolic Disorders v0.70 UGT1A1 Zornitza Stark Gene: ugt1a1 has been classified as Green List (High Evidence).
Miscellaneous Metabolic Disorders v0.70 UGT1A1 Zornitza Stark Classified gene: UGT1A1 as Green List (high evidence)
Miscellaneous Metabolic Disorders v0.70 UGT1A1 Zornitza Stark Gene: ugt1a1 has been classified as Green List (High Evidence).
Miscellaneous Metabolic Disorders v0.69 UGT1A1 Zornitza Stark gene: UGT1A1 was added
gene: UGT1A1 was added to Miscellaneous Metabolic Disorders. Sources: Expert Review
Mode of inheritance for gene: UGT1A1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: UGT1A1 were set to Bilirubin UDP-glucuronosyltransferase 1 deficiency (Disorders of bile acid metabolism and transport); Crigler-Najjar syndrome, type I 218800; Crigler-Najjar syndrome, type II 606785
Review for gene: UGT1A1 was set to GREEN
Added comment: Well established gene-disease association.
Sources: Expert Review
Miscellaneous Metabolic Disorders v0.68 ABCD4 Zornitza Stark Marked gene: ABCD4 as ready
Miscellaneous Metabolic Disorders v0.68 ABCD4 Zornitza Stark Gene: abcd4 has been classified as Green List (High Evidence).
Miscellaneous Metabolic Disorders v0.67 UMPS Zornitza Stark Marked gene: UMPS as ready
Miscellaneous Metabolic Disorders v0.67 UMPS Zornitza Stark Gene: umps has been classified as Green List (High Evidence).
Miscellaneous Metabolic Disorders v0.67 UMPS Zornitza Stark Classified gene: UMPS as Green List (high evidence)
Miscellaneous Metabolic Disorders v0.67 UMPS Zornitza Stark Gene: umps has been classified as Green List (High Evidence).
Miscellaneous Metabolic Disorders v0.66 UMPS Zornitza Stark gene: UMPS was added
gene: UMPS was added to Miscellaneous Metabolic Disorders. Sources: Expert Review
Mode of inheritance for gene: UMPS was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: UMPS were set to Orotic aciduria, MIM# 258900
Review for gene: UMPS was set to GREEN
Added comment: Well established gene-disease association.
Sources: Expert Review
Miscellaneous Metabolic Disorders v0.65 UPB1 Zornitza Stark Marked gene: UPB1 as ready
Miscellaneous Metabolic Disorders v0.65 UPB1 Zornitza Stark Gene: upb1 has been classified as Green List (High Evidence).
Miscellaneous Metabolic Disorders v0.65 UPB1 Zornitza Stark Classified gene: UPB1 as Green List (high evidence)
Miscellaneous Metabolic Disorders v0.65 UPB1 Zornitza Stark Gene: upb1 has been classified as Green List (High Evidence).
Miscellaneous Metabolic Disorders v0.64 UPB1 Zornitza Stark gene: UPB1 was added
gene: UPB1 was added to Miscellaneous Metabolic Disorders. Sources: Expert list
Mode of inheritance for gene: UPB1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: UPB1 were set to 27604308; 24526388; 25638458; 22525402; 15385443; 17964839
Phenotypes for gene: UPB1 were set to Beta-ureidopropionase deficiency, MIM# 613161
Review for gene: UPB1 was set to GREEN
Added comment: Disorder of pyrimidine metabolism.

Phenotype can range from severe neurologic involvement with ID and seizures to normal neurologic development, likely related to amount of residual enzyme activity.
Sources: Expert list
Miscellaneous Metabolic Disorders v0.63 UROC1 Zornitza Stark Marked gene: UROC1 as ready
Miscellaneous Metabolic Disorders v0.63 UROC1 Zornitza Stark Gene: uroc1 has been classified as Amber List (Moderate Evidence).
Miscellaneous Metabolic Disorders v0.63 UROC1 Zornitza Stark Publications for gene: UROC1 were set to 19304569 30619714
Miscellaneous Metabolic Disorders v0.62 UROC1 Zornitza Stark Classified gene: UROC1 as Amber List (moderate evidence)
Miscellaneous Metabolic Disorders v0.62 UROC1 Zornitza Stark Gene: uroc1 has been classified as Amber List (Moderate Evidence).
Miscellaneous Metabolic Disorders v0.61 UROC1 Zornitza Stark gene: UROC1 was added
gene: UROC1 was added to Miscellaneous Metabolic Disorders. Sources: Expert list
Mode of inheritance for gene: UROC1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: UROC1 were set to 19304569 30619714
Phenotypes for gene: UROC1 were set to Urocanase deficiency, MIM#276880
Review for gene: UROC1 was set to AMBER
Added comment: Three individuals from two families, one presenting with ID/ataxia, and the sibs from the second family following a normal clinical course despite distinctive biochemical abnormalities.
Sources: Expert list
Miscellaneous Metabolic Disorders v0.60 WDR45 Zornitza Stark Marked gene: WDR45 as ready
Miscellaneous Metabolic Disorders v0.60 WDR45 Zornitza Stark Gene: wdr45 has been classified as Green List (High Evidence).
Miscellaneous Metabolic Disorders v0.60 WDR45 Zornitza Stark Classified gene: WDR45 as Green List (high evidence)
Miscellaneous Metabolic Disorders v0.60 WDR45 Zornitza Stark Gene: wdr45 has been classified as Green List (High Evidence).
Miscellaneous Metabolic Disorders v0.59 WDR45 Zornitza Stark gene: WDR45 was added
gene: WDR45 was added to Miscellaneous Metabolic Disorders. Sources: Expert list
Mode of inheritance for gene: WDR45 was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Publications for gene: WDR45 were set to 23176820
Phenotypes for gene: WDR45 were set to Neurodegeneration with brain iron accumulation 5, MIM# 300894
Review for gene: WDR45 was set to GREEN
Added comment: The WDR45 gene has an important role in the autophagy pathway, which is the major intracellular degradation system by which cytoplasmic materials are packaged into autophagosomes and delivered to lysosomes for degradation.

More than 20 unrelated individuals reported. XLD.
Sources: Expert list
Miscellaneous Metabolic Disorders v0.58 ASS1 Bryony Thompson Marked gene: ASS1 as ready
Miscellaneous Metabolic Disorders v0.58 ASS1 Bryony Thompson Gene: ass1 has been classified as Green List (High Evidence).
Miscellaneous Metabolic Disorders v0.58 ASS1 Bryony Thompson Classified gene: ASS1 as Green List (high evidence)
Miscellaneous Metabolic Disorders v0.58 ASS1 Bryony Thompson Gene: ass1 has been classified as Green List (High Evidence).
Miscellaneous Metabolic Disorders v0.57 ASS1 Bryony Thompson gene: ASS1 was added
gene: ASS1 was added to Miscellaneous Metabolic Disorders. Sources: NHS GMS
Mode of inheritance for gene: ASS1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ASS1 were set to 19006241
Phenotypes for gene: ASS1 were set to Citrullinemia MIM#215700; Urea cycle disorders and inherited hyperammonaemias; disorder of amino acid metabolism
Review for gene: ASS1 was set to GREEN
gene: ASS1 was marked as current diagnostic
Added comment: Biallelic variants cause an inborn error of amino acid metabolism. Well-established gene-disease association (see OMIM entry).
Sources: NHS GMS
Miscellaneous Metabolic Disorders v0.56 ASPA Bryony Thompson Marked gene: ASPA as ready
Miscellaneous Metabolic Disorders v0.56 ASPA Bryony Thompson Gene: aspa has been classified as Green List (High Evidence).
Miscellaneous Metabolic Disorders v0.56 ASPA Bryony Thompson Classified gene: ASPA as Green List (high evidence)
Miscellaneous Metabolic Disorders v0.56 ASPA Bryony Thompson Gene: aspa has been classified as Green List (High Evidence).
Miscellaneous Metabolic Disorders v0.55 ASPA Bryony Thompson gene: ASPA was added
gene: ASPA was added to Miscellaneous Metabolic Disorders. Sources: NHS GMS
Mode of inheritance for gene: ASPA was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ASPA were set to 8252036; 8023850
Phenotypes for gene: ASPA were set to Canavan disease MIM#271900; disorder of amino acid metabolism
Review for gene: ASPA was set to GREEN
gene: ASPA was marked as current diagnostic
Added comment: Biallelic variants cause an inborn error of amino acid metabolism. Well-established gene-disease association (see OMIM entry).
Sources: NHS GMS
Miscellaneous Metabolic Disorders v0.54 ASL Bryony Thompson Marked gene: ASL as ready
Miscellaneous Metabolic Disorders v0.54 ASL Bryony Thompson Gene: asl has been classified as Green List (High Evidence).
Miscellaneous Metabolic Disorders v0.54 ASL Bryony Thompson Classified gene: ASL as Green List (high evidence)
Miscellaneous Metabolic Disorders v0.54 ASL Bryony Thompson Gene: asl has been classified as Green List (High Evidence).
Miscellaneous Metabolic Disorders v0.53 ASL Bryony Thompson gene: ASL was added
gene: ASL was added to Miscellaneous Metabolic Disorders. Sources: NHS GMS
Mode of inheritance for gene: ASL was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ASL were set to 2263616; 12384776
Phenotypes for gene: ASL were set to Argininosuccinic aciduria MIM#207900; Urea cycle disorders and inherited hyperammonaemias; disorder of amino acid metabolism
Review for gene: ASL was set to GREEN
gene: ASL was marked as current diagnostic
Added comment: Biallelic variants cause an inborn error of amino acid metabolism. Well-established gene-disease association (see OMIM entry).
Sources: NHS GMS
Miscellaneous Metabolic Disorders v0.52 ARG1 Bryony Thompson Marked gene: ARG1 as ready
Miscellaneous Metabolic Disorders v0.52 ARG1 Bryony Thompson Gene: arg1 has been classified as Green List (High Evidence).
Miscellaneous Metabolic Disorders v0.52 ARG1 Bryony Thompson Classified gene: ARG1 as Green List (high evidence)
Miscellaneous Metabolic Disorders v0.52 ARG1 Bryony Thompson Gene: arg1 has been classified as Green List (High Evidence).
Miscellaneous Metabolic Disorders v0.51 ARG1 Bryony Thompson gene: ARG1 was added
gene: ARG1 was added to Miscellaneous Metabolic Disorders. Sources: NHS GMS
Mode of inheritance for gene: ARG1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ARG1 were set to 2365823; 1598908; 29726057
Phenotypes for gene: ARG1 were set to Argininemia MIM#207800; Urea cycle disorders and inherited hyperammonaemias; disorder of arginine metabolism
Review for gene: ARG1 was set to GREEN
gene: ARG1 was marked as current diagnostic
Added comment: Biallelic variants cause an inborn error of of arginine metabolism. Well-established gene-disease association (see OMIM entry).
Sources: NHS GMS
Miscellaneous Metabolic Disorders v0.50 AMT Bryony Thompson Marked gene: AMT as ready
Miscellaneous Metabolic Disorders v0.50 AMT Bryony Thompson Gene: amt has been classified as Green List (High Evidence).
Miscellaneous Metabolic Disorders v0.50 AMT Bryony Thompson Classified gene: AMT as Green List (high evidence)
Miscellaneous Metabolic Disorders v0.50 AMT Bryony Thompson Gene: amt has been classified as Green List (High Evidence).
Miscellaneous Metabolic Disorders v0.49 AMT Bryony Thompson gene: AMT was added
gene: AMT was added to Miscellaneous Metabolic Disorders. Sources: NHS GMS
Mode of inheritance for gene: AMT was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: AMT were set to 8188235; 10873393; 11592811
Phenotypes for gene: AMT were set to Glycine encephalopathy MIM#605899; disorder of glycine metabolism
Review for gene: AMT was set to GREEN
gene: AMT was marked as current diagnostic
Added comment: Biallelic variants cause inborn error of glycine metabolism. Well-established gene-disease association (see OMIM entry).
Sources: NHS GMS
Miscellaneous Metabolic Disorders v0.48 ALPL Bryony Thompson Marked gene: ALPL as ready
Miscellaneous Metabolic Disorders v0.48 ALPL Bryony Thompson Gene: alpl has been classified as Green List (High Evidence).
Miscellaneous Metabolic Disorders v0.48 ALPL Bryony Thompson Classified gene: ALPL as Green List (high evidence)
Miscellaneous Metabolic Disorders v0.48 ALPL Bryony Thompson Gene: alpl has been classified as Green List (High Evidence).
Miscellaneous Metabolic Disorders v0.47 ALPL Bryony Thompson gene: ALPL was added
gene: ALPL was added to Miscellaneous Metabolic Disorders. Sources: NHS GMS
Mode of inheritance for gene: ALPL was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: ALPL were set to 3174660; 1409720
Phenotypes for gene: ALPL were set to Hypophosphatasia; disorder of bone metabolism
Review for gene: ALPL was set to GREEN
gene: ALPL was marked as current diagnostic
Added comment: Inborn error of bone metabolism. Well-established gene-disease association (see OMIM entry).
Sources: NHS GMS
Miscellaneous Metabolic Disorders v0.46 ALDH7A1 Bryony Thompson Marked gene: ALDH7A1 as ready
Miscellaneous Metabolic Disorders v0.46 ALDH7A1 Bryony Thompson Gene: aldh7a1 has been classified as Green List (High Evidence).
Miscellaneous Metabolic Disorders v0.46 ALDH7A1 Bryony Thompson Classified gene: ALDH7A1 as Green List (high evidence)
Miscellaneous Metabolic Disorders v0.46 ALDH7A1 Bryony Thompson Gene: aldh7a1 has been classified as Green List (High Evidence).
Miscellaneous Metabolic Disorders v0.45 ALDH7A1 Bryony Thompson gene: ALDH7A1 was added
gene: ALDH7A1 was added to Miscellaneous Metabolic Disorders. Sources: NHS GMS
Mode of inheritance for gene: ALDH7A1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ALDH7A1 were set to 16491085; 17068770
Phenotypes for gene: ALDH7A1 were set to Epilepsy, pyridoxine-dependent MM#266100; disorder of lysine metabolism
Review for gene: ALDH7A1 was set to GREEN
gene: ALDH7A1 was marked as current diagnostic
Added comment: Inborn error of lysine metabolism. Well-established gene-disease association (see OMIM entry).
Sources: NHS GMS
Miscellaneous Metabolic Disorders v0.44 ALDH6A1 Bryony Thompson Marked gene: ALDH6A1 as ready
Miscellaneous Metabolic Disorders v0.44 ALDH6A1 Bryony Thompson Gene: aldh6a1 has been classified as Green List (High Evidence).
Miscellaneous Metabolic Disorders v0.44 ALDH6A1 Bryony Thompson Classified gene: ALDH6A1 as Green List (high evidence)
Miscellaneous Metabolic Disorders v0.44 ALDH6A1 Bryony Thompson Gene: aldh6a1 has been classified as Green List (High Evidence).
Miscellaneous Metabolic Disorders v0.43 ALDH6A1 Bryony Thompson gene: ALDH6A1 was added
gene: ALDH6A1 was added to Miscellaneous Metabolic Disorders. Sources: NHS GMS
Mode of inheritance for gene: ALDH6A1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ALDH6A1 were set to 32151545; 10947204; 21863277; 23835272
Phenotypes for gene: ALDH6A1 were set to Methylmalonate semialdehyde dehydrogenase deficiency MIM#614105; disorder of valine and pyrimidine metabolism
Review for gene: ALDH6A1 was set to GREEN
gene: ALDH6A1 was marked as current diagnostic
Added comment: At least 5 unrelated cases reported. Inborn error of valine and pyrimidine catabolism.
Sources: NHS GMS
Miscellaneous Metabolic Disorders v0.42 ALDH5A1 Bryony Thompson Marked gene: ALDH5A1 as ready
Miscellaneous Metabolic Disorders v0.42 ALDH5A1 Bryony Thompson Gene: aldh5a1 has been classified as Green List (High Evidence).
Miscellaneous Metabolic Disorders v0.42 ALDH5A1 Bryony Thompson Classified gene: ALDH5A1 as Green List (high evidence)
Miscellaneous Metabolic Disorders v0.42 ALDH5A1 Bryony Thompson Gene: aldh5a1 has been classified as Green List (High Evidence).
Miscellaneous Metabolic Disorders v0.41 ALDH5A1 Bryony Thompson gene: ALDH5A1 was added
gene: ALDH5A1 was added to Miscellaneous Metabolic Disorders. Sources: NHS GMS
Mode of inheritance for gene: ALDH5A1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ALDH5A1 were set to 9683595; 14635103; 32887777
Phenotypes for gene: ALDH5A1 were set to Succinic semialdehyde dehydrogenase deficiency MIM#271980; disorder of neurotransmitter metabolism
Review for gene: ALDH5A1 was set to GREEN
gene: ALDH5A1 was marked as current diagnostic
Added comment: Inborn error of gamma-aminobutyric acid metabolism. Well-established gene-disease association (see OMIM entry).
Sources: NHS GMS
Miscellaneous Metabolic Disorders v0.40 ALDH4A1 Bryony Thompson Marked gene: ALDH4A1 as ready
Miscellaneous Metabolic Disorders v0.40 ALDH4A1 Bryony Thompson Gene: aldh4a1 has been classified as Green List (High Evidence).
Miscellaneous Metabolic Disorders v0.40 ALDH4A1 Bryony Thompson Classified gene: ALDH4A1 as Green List (high evidence)
Miscellaneous Metabolic Disorders v0.40 ALDH4A1 Bryony Thompson Gene: aldh4a1 has been classified as Green List (High Evidence).
Miscellaneous Metabolic Disorders v0.39 ALDH4A1 Bryony Thompson gene: ALDH4A1 was added
gene: ALDH4A1 was added to Miscellaneous Metabolic Disorders. Sources: NHS GMS
Mode of inheritance for gene: ALDH4A1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ALDH4A1 were set to 9700195; 31884946
Phenotypes for gene: ALDH4A1 were set to Hyperprolinemia, type II MIM#239510; disorders of ornithine or proline metabolism
Review for gene: ALDH4A1 was set to GREEN
gene: ALDH4A1 was marked as current diagnostic
Added comment: At least 4 unrelated cases reported. Biallelic variants cause an inborn error or ornithine/proline metabolism.
Sources: NHS GMS
Miscellaneous Metabolic Disorders v0.38 ALDH3A2 Bryony Thompson Marked gene: ALDH3A2 as ready
Miscellaneous Metabolic Disorders v0.38 ALDH3A2 Bryony Thompson Gene: aldh3a2 has been classified as Green List (High Evidence).
Miscellaneous Metabolic Disorders v0.38 ALDH3A2 Bryony Thompson Classified gene: ALDH3A2 as Green List (high evidence)
Miscellaneous Metabolic Disorders v0.38 ALDH3A2 Bryony Thompson Gene: aldh3a2 has been classified as Green List (High Evidence).
Miscellaneous Metabolic Disorders v0.37 ALDH3A2 Bryony Thompson gene: ALDH3A2 was added
gene: ALDH3A2 was added to Miscellaneous Metabolic Disorders. Sources: NHS GMS
Mode of inheritance for gene: ALDH3A2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ALDH3A2 were set to 8528251; 31273323
Phenotypes for gene: ALDH3A2 were set to Sjogren-Larsson syndrome MIM#270200; disorder of lipid metabolism
Review for gene: ALDH3A2 was set to GREEN
gene: ALDH3A2 was marked as current diagnostic
Added comment: Well-established gene-disease association (see OMIM entry), and causes an inborn error of lipid metabolism.
Sources: NHS GMS
Miscellaneous Metabolic Disorders v0.36 ALDH18A1 Bryony Thompson changed review comment from: Well-established gene-disease association. Certain types of disease-causing variants alter proline/ornithine metabolism.
Sources: NHS GMS; to: Well-established gene-disease association (see OMIM). Certain types of disease-causing variants alter proline/ornithine metabolism.
Sources: NHS GMS
Miscellaneous Metabolic Disorders v0.36 ALDH18A1 Bryony Thompson Marked gene: ALDH18A1 as ready
Miscellaneous Metabolic Disorders v0.36 ALDH18A1 Bryony Thompson Gene: aldh18a1 has been classified as Green List (High Evidence).
Miscellaneous Metabolic Disorders v0.36 ALDH18A1 Bryony Thompson Classified gene: ALDH18A1 as Green List (high evidence)
Miscellaneous Metabolic Disorders v0.36 ALDH18A1 Bryony Thompson Gene: aldh18a1 has been classified as Green List (High Evidence).
Miscellaneous Metabolic Disorders v0.35 ALDH18A1 Bryony Thompson gene: ALDH18A1 was added
gene: ALDH18A1 was added to Miscellaneous Metabolic Disorders. Sources: NHS GMS
Mode of inheritance for gene: ALDH18A1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: ALDH18A1 were set to 32221810; 11092761; 29754261; 26026163
Phenotypes for gene: ALDH18A1 were set to 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
Review for gene: ALDH18A1 was set to GREEN
gene: ALDH18A1 was marked as current diagnostic
Added comment: Well-established gene-disease association. Certain types of disease-causing variants alter proline/ornithine metabolism.
Sources: NHS GMS
Miscellaneous Metabolic Disorders v0.34 AKR1D1 Bryony Thompson Phenotypes for gene: AKR1D1 were changed from Bile acid synthesis defect, congenital, 2 MIM#235555 to Bile acid synthesis defect, congenital, 2 MIM#235555; disorder of bile acid metabolism
Miscellaneous Metabolic Disorders v0.33 AHCY Bryony Thompson Phenotypes for gene: AHCY were changed from Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase MIM#613752 to Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase MIM#613752; disorder of methionine metabolism
Miscellaneous Metabolic Disorders v0.32 ADSL Bryony Thompson Phenotypes for gene: ADSL were changed from Adenylosuccinase deficiency MIM#103050 to Adenylosuccinase deficiency MIM#103050; disorder of purine metabolism
Miscellaneous Metabolic Disorders v0.31 ADA Bryony Thompson Phenotypes for gene: ADA were changed from Adenosine deaminase deficiency, partial MIM#102700; Severe combined immunodeficiency due to ADA deficiency MIM#102700 to Adenosine deaminase deficiency, partial MIM#102700; Severe combined immunodeficiency due to ADA deficiency MIM#102700; disorder of purine metabolism
Miscellaneous Metabolic Disorders v0.30 ACY1 Bryony Thompson Phenotypes for gene: ACY1 were changed from Aminoacylase 1 deficiency MIM#609924 to Aminoacylase 1 deficiency MIM#609924; disorder of amino acid metabolism
Miscellaneous Metabolic Disorders v0.29 ACAD8 Bryony Thompson Phenotypes for gene: ACAD8 were changed from Isobutyryl-CoA dehydrogenase deficiency MIM#611283 to Isobutyryl-CoA dehydrogenase deficiency MIM#611283; of valine metabolism
Miscellaneous Metabolic Disorders v0.28 ABHD5 Bryony Thompson Phenotypes for gene: ABHD5 were changed from Chanarin-Dorfman syndrome MIM#275630; neutral lipid storage disease with ichthyosis to Chanarin-Dorfman syndrome MIM#275630; neutral lipid storage disease with ichthyosis; lipid metabolism
Miscellaneous Metabolic Disorders v0.27 ABHD12 Bryony Thompson Phenotypes for gene: ABHD12 were changed from Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract MIM#612674 to Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract MIM#612674; disorder of of endocannabinoid metabolism
Miscellaneous Metabolic Disorders v0.26 ABCD4 Bryony Thompson Phenotypes for gene: ABCD4 were changed from Methylmalonic aciduria and homocystinuria, cblJ type MIM#614857 to Methylmalonic aciduria and homocystinuria, cblJ type MIM#614857; disorder of vitamin B12 metabolism
Miscellaneous Metabolic Disorders v0.25 AKR1D1 Bryony Thompson Marked gene: AKR1D1 as ready
Miscellaneous Metabolic Disorders v0.25 AKR1D1 Bryony Thompson Gene: akr1d1 has been classified as Green List (High Evidence).
Miscellaneous Metabolic Disorders v0.25 AKR1D1 Bryony Thompson Classified gene: AKR1D1 as Green List (high evidence)
Miscellaneous Metabolic Disorders v0.25 AKR1D1 Bryony Thompson Gene: akr1d1 has been classified as Green List (High Evidence).
Miscellaneous Metabolic Disorders v0.24 AKR1D1 Bryony Thompson gene: AKR1D1 was added
gene: AKR1D1 was added to Miscellaneous Metabolic Disorders. Sources: NHS GMS
Mode of inheritance for gene: AKR1D1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: AKR1D1 were set to 12970144; 20522910; 15030995
Phenotypes for gene: AKR1D1 were set to Bile acid synthesis defect, congenital, 2 MIM#235555
Review for gene: AKR1D1 was set to GREEN
gene: AKR1D1 was marked as current diagnostic
Added comment: Inborn error of bile acid metabolism. At least 6 cases (with 5 variants) in 5 families reported.
Sources: NHS GMS
Miscellaneous Metabolic Disorders v0.23 AHCY Bryony Thompson Marked gene: AHCY as ready
Miscellaneous Metabolic Disorders v0.23 AHCY Bryony Thompson Gene: ahcy has been classified as Green List (High Evidence).
Miscellaneous Metabolic Disorders v0.23 AHCY Bryony Thompson Classified gene: AHCY as Green List (high evidence)
Miscellaneous Metabolic Disorders v0.23 AHCY Bryony Thompson Gene: ahcy has been classified as Green List (High Evidence).
Miscellaneous Metabolic Disorders v0.22 AHCY Bryony Thompson gene: AHCY was added
gene: AHCY was added to Miscellaneous Metabolic Disorders. Sources: NHS GMS
Mode of inheritance for gene: AHCY was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: AHCY were set to 28779239; 26095522; 20852937; 15024124; 27626380
Phenotypes for gene: AHCY were set to Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase MIM#613752
Review for gene: AHCY was set to GREEN
gene: AHCY was marked as current diagnostic
Added comment: S-adenosylhomocysteine hydrolase deficiency causes an inborn error in methionine metabolism. >3 cases reported with biallelic variants. Mouse model is homozygous-lethal.
Sources: NHS GMS
Miscellaneous Metabolic Disorders v0.21 ADSL Bryony Thompson Marked gene: ADSL as ready
Miscellaneous Metabolic Disorders v0.21 ADSL Bryony Thompson Gene: adsl has been classified as Green List (High Evidence).
Miscellaneous Metabolic Disorders v0.21 ADSL Bryony Thompson Classified gene: ADSL as Green List (high evidence)
Miscellaneous Metabolic Disorders v0.21 ADSL Bryony Thompson Gene: adsl has been classified as Green List (High Evidence).
Miscellaneous Metabolic Disorders v0.20 ADSL Bryony Thompson gene: ADSL was added
gene: ADSL was added to Miscellaneous Metabolic Disorders. Sources: NHS GMS
Mode of inheritance for gene: ADSL was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ADSL were set to 1302001; 22180458; 18524658; 27626380
Phenotypes for gene: ADSL were set to Adenylosuccinase deficiency MIM#103050
Review for gene: ADSL was set to GREEN
gene: ADSL was marked as current diagnostic
Added comment: Adenylosuccinase deficiency is an autosomal recessive inborn error of purine metabolism caused by an enzymatic defect in de novo purine synthesis (DNPS) pathway. Well-established gene-disease association (see OMIM). Knockout mouse model is homozygous lethal.
Sources: NHS GMS
Miscellaneous Metabolic Disorders v0.19 ADA Bryony Thompson Marked gene: ADA as ready
Miscellaneous Metabolic Disorders v0.19 ADA Bryony Thompson Gene: ada has been classified as Green List (High Evidence).
Miscellaneous Metabolic Disorders v0.19 ADA Bryony Thompson Classified gene: ADA as Green List (high evidence)
Miscellaneous Metabolic Disorders v0.19 ADA Bryony Thompson Gene: ada has been classified as Green List (High Evidence).
Miscellaneous Metabolic Disorders v0.18 ADA Bryony Thompson gene: ADA was added
gene: ADA was added to Miscellaneous Metabolic Disorders. Sources: NHS GMS
Mode of inheritance for gene: ADA was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ADA were set to 3475710; 3684597; 2783588; 1680289
Phenotypes for gene: ADA were set to Adenosine deaminase deficiency, partial MIM#102700; Severe combined immunodeficiency due to ADA deficiency MIM#102700
Review for gene: ADA was set to GREEN
gene: ADA was marked as current diagnostic
Added comment: Well-established cause of disease (see OMIM). Biallelic variants cause an inborn error in purine metabolism.
Sources: NHS GMS
Miscellaneous Metabolic Disorders v0.17 ACY1 Bryony Thompson Marked gene: ACY1 as ready
Miscellaneous Metabolic Disorders v0.17 ACY1 Bryony Thompson Gene: acy1 has been classified as Green List (High Evidence).
Miscellaneous Metabolic Disorders v0.17 ACY1 Bryony Thompson Classified gene: ACY1 as Green List (high evidence)
Miscellaneous Metabolic Disorders v0.17 ACY1 Bryony Thompson Gene: acy1 has been classified as Green List (High Evidence).
Miscellaneous Metabolic Disorders v0.16 ACY1 Bryony Thompson gene: ACY1 was added
gene: ACY1 was added to Miscellaneous Metabolic Disorders. Sources: NHS GMS
Mode of inheritance for gene: ACY1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ACY1 were set to 16465618; 17562838; 24117009
Phenotypes for gene: ACY1 were set to Aminoacylase 1 deficiency MIM#609924
Review for gene: ACY1 was set to GREEN
gene: ACY1 was marked as current diagnostic
Added comment: Well-established inborn error of metabolism (see OMIM). Cases exhibit urinary excretion of specific N-acetyl amino acids and manifest heterogeneous clinical features including intellectual disability, motor delay, seizures, moderate to severe mental retardation, absent speech, growth delay, muscular hypotonia and autistic features.
Sources: NHS GMS
Miscellaneous Metabolic Disorders v0.15 ACSF3 Bryony Thompson Classified gene: ACSF3 as Amber List (moderate evidence)
Miscellaneous Metabolic Disorders v0.15 ACSF3 Bryony Thompson Gene: acsf3 has been classified as Amber List (Moderate Evidence).
Miscellaneous Metabolic Disorders v0.14 ACSF3 Bryony Thompson gene: ACSF3 was added
gene: ACSF3 was added to Miscellaneous Metabolic Disorders. Sources: NHS GMS
Mode of inheritance for gene: ACSF3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ACSF3 were set to 21841779; 30740739
Phenotypes for gene: ACSF3 were set to Combined malonic and methylmalonic aciduria MIM#614265
Review for gene: ACSF3 was set to AMBER
Added comment: ACSF3 deficiency causes combined malonic and methylmalonic aciduria, however the clinical significance of this deficiency appears uncertain. No specific or consistent pattern of clinical manifestations was identified in an unselected cohort of 25 cases identified through NBS in Quebec.
Sources: NHS GMS
Miscellaneous Metabolic Disorders v0.13 ACAD8 Bryony Thompson Marked gene: ACAD8 as ready
Miscellaneous Metabolic Disorders v0.13 ACAD8 Bryony Thompson Gene: acad8 has been classified as Green List (High Evidence).
Miscellaneous Metabolic Disorders v0.13 ACAD8 Bryony Thompson Classified gene: ACAD8 as Green List (high evidence)
Miscellaneous Metabolic Disorders v0.13 ACAD8 Bryony Thompson Gene: acad8 has been classified as Green List (High Evidence).
Miscellaneous Metabolic Disorders v0.12 ACAD8 Bryony Thompson gene: ACAD8 was added
gene: ACAD8 was added to Miscellaneous Metabolic Disorders. Sources: NHS GMS
Mode of inheritance for gene: ACAD8 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ACAD8 were set to 12359132; 17304052
Phenotypes for gene: ACAD8 were set to Isobutyryl-CoA dehydrogenase deficiency MIM#611283
Review for gene: ACAD8 was set to GREEN
gene: ACAD8 was marked as current diagnostic
Added comment: Inborn error of valine metabolism. Isobutyryl-CoA dehydrogenase deficiency was identified in at least 9 cases in 8 families, 6 of the cases were asymptomatic at the time of the study.
Sources: NHS GMS
Miscellaneous Metabolic Disorders v0.11 ABHD5 Bryony Thompson Marked gene: ABHD5 as ready
Miscellaneous Metabolic Disorders v0.11 ABHD5 Bryony Thompson Gene: abhd5 has been classified as Green List (High Evidence).
Miscellaneous Metabolic Disorders v0.11 ABHD5 Bryony Thompson Classified gene: ABHD5 as Green List (high evidence)
Miscellaneous Metabolic Disorders v0.11 ABHD5 Bryony Thompson Gene: abhd5 has been classified as Green List (High Evidence).
Miscellaneous Metabolic Disorders v0.10 ABHD5 Bryony Thompson gene: ABHD5 was added
gene: ABHD5 was added to Miscellaneous Metabolic Disorders. Sources: NHS GMS
Mode of inheritance for gene: ABHD5 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ABHD5 were set to 30795549
Phenotypes for gene: ABHD5 were set to Chanarin-Dorfman syndrome MIM#275630; neutral lipid storage disease with ichthyosis
Review for gene: ABHD5 was set to GREEN
gene: ABHD5 was marked as current diagnostic
Added comment: Well-established disease gene (see OMIM) that is involved in lipid metabolism.
Sources: NHS GMS
Miscellaneous Metabolic Disorders v0.9 ABHD12 Bryony Thompson Marked gene: ABHD12 as ready
Miscellaneous Metabolic Disorders v0.9 ABHD12 Bryony Thompson Gene: abhd12 has been classified as Green List (High Evidence).
Miscellaneous Metabolic Disorders v0.9 ABHD12 Bryony Thompson Classified gene: ABHD12 as Green List (high evidence)
Miscellaneous Metabolic Disorders v0.9 ABHD12 Bryony Thompson Gene: abhd12 has been classified as Green List (High Evidence).
Miscellaneous Metabolic Disorders v0.8 ABHD12 Bryony Thompson gene: ABHD12 was added
gene: ABHD12 was added to Miscellaneous Metabolic Disorders. Sources: NHS GMS
Mode of inheritance for gene: ABHD12 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ABHD12 were set to 20797687
Phenotypes for gene: ABHD12 were set to Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract MIM#612674
Review for gene: ABHD12 was set to GREEN
gene: ABHD12 was marked as current diagnostic
Added comment: Well-established disease gene (see OMIM). Biallelic variants cause an inborn error of endocannabinoid metabolism.
Sources: NHS GMS
Miscellaneous Metabolic Disorders v0.6 Bryony Thompson Panel status changed from internal to public
Miscellaneous Metabolic Disorders v0.5 ABCD4 Bryony Thompson Classified gene: ABCD4 as Green List (high evidence)
Miscellaneous Metabolic Disorders v0.5 ABCD4 Bryony Thompson Gene: abcd4 has been classified as Green List (High Evidence).
Miscellaneous Metabolic Disorders v0.4 ABCD4 Bryony Thompson gene: ABCD4 was added
gene: ABCD4 was added to Miscellaneous Metabolic Disorders. Sources: NHS GMS
Mode of inheritance for gene: ABCD4 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ABCD4 were set to 22922874; 31113616; 30651581; 28572511
Phenotypes for gene: ABCD4 were set to Methylmalonic aciduria and homocystinuria, cblJ type MIM#614857
Review for gene: ABCD4 was set to GREEN
Added comment: Inborn error of vitamin B12 metabolism - >3 unrelated cases and a supporting mouse model
PMID: 22922874 - 2 unrelated cases with biallelic variants. Expression of wildtype ABCD4 in patient fibroblasts led to rescue of the biochemical phenotype.
PMID: 30651581 - a Chinese case with a homozygous variant c.423C>G (p.Asn141Lys)
PMID: 28572511 - 1 compound het case with supporting functional assays
PMID: 31113616 - abcd4 null zebrafish model leads to vitamin B 12-deficiency anemia
Sources: NHS GMS
Miscellaneous Metabolic Disorders v0.3 AASS Bryony Thompson Marked gene: AASS as ready
Miscellaneous Metabolic Disorders v0.3 AASS Bryony Thompson Gene: aass has been classified as Amber List (Moderate Evidence).
Miscellaneous Metabolic Disorders v0.3 AASS Bryony Thompson Classified gene: AASS as Amber List (moderate evidence)
Miscellaneous Metabolic Disorders v0.3 AASS Bryony Thompson Gene: aass has been classified as Amber List (Moderate Evidence).
Miscellaneous Metabolic Disorders v0.1 AASS Bryony Thompson gene: AASS was added
gene: AASS was added to Miscellaneous Metabolic Disorders. Sources: NHS GMS
Mode of inheritance for gene: AASS was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: AASS were set to 23570448
Phenotypes for gene: AASS were set to Hyperlysinemia, MIM# 238700
Miscellaneous Metabolic Disorders v0.0 Bryony Thompson Added Panel Miscellaneous Metabolic Disorders
Set panel types to: Royal Melbourne Hospital; Rare Disease