Mitochondrial disease
Gene: HMGCS2EnsemblGeneIds (GRCh38): ENSG00000134240
EnsemblGeneIds (GRCh37): ENSG00000134240
OMIM: 600234, Gene2Phenotype
HMGCS2 is in 7 panels
2 reviews
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
Mitochondrial 3-hydroxy-3-methylglutaryl CoA synthase mediates the first reaction of ketogenesis. Over 20 affected individuals reported. Typical presentation is with with hypoketotic hypoglycaemia, encephalopathy, and hepatomegaly, usually precipitated by an intercurrent infection or prolonged fasting.Created: 3 Jan 2021, 11:37 p.m. | Last Modified: 3 Jan 2021, 11:37 p.m.
Panel Version: 0.5899
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
HMG-CoA synthase-2 deficiency, MIM# 605911
Publications
Bryony Thompson (Royal Melbourne Hospital)
Mitochondrial HMG-CoA synthase deficiency is a rare inherited metabolic disorder that affects ketone-body synthesis. A defect in the substrate-generating upstream reactions of OXPHOS. >3 cases reported.
Sources: NHS GMS, LiteratureCreated: 21 Mar 2020, 5:47 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
HMG-CoA synthase-2 deficiency MIM#605911
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Expert Review Green
- Literature
- NHS GMS
- Victorian Clinical Genetics Services
- Phenotypes
-
- HMG-CoA synthase-2 deficiency MIM#605911
- OMIM
- 600234
- Clinvar variants
- Variants in HMGCS2
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
Entity classified by Genomics England curator
Bryony Thompson (Royal Melbourne Hospital)Gene: hmgcs2 has been classified as Green List (High Evidence).
Entity classified by Genomics England curator
Bryony Thompson (Royal Melbourne Hospital)Gene: hmgcs2 has been classified as Green List (High Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Bryony Thompson (Royal Melbourne Hospital)gene: HMGCS2 was added gene: HMGCS2 was added to Mitochondrial disease. Sources: NHS GMS,Literature Mode of inheritance for gene: HMGCS2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: HMGCS2 were set to 25778941; 9337379; 23751782 Phenotypes for gene: HMGCS2 were set to HMG-CoA synthase-2 deficiency MIM#605911 Review for gene: HMGCS2 was set to GREEN