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Gene: HMGCS2

Green List (high evidence)

HMGCS2 (3-hydroxy-3-methylglutaryl-CoA synthase 2)
EnsemblGeneIds (GRCh38): ENSG00000134240
EnsemblGeneIds (GRCh37): ENSG00000134240
OMIM: 600234, Gene2Phenotype
HMGCS2 is in 7 panels

1 review

Karina Sandoval (Victorian Clinical Genetics Services)

Green List (high evidence)

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.

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.

PMID 16601895: meta analysis on 8 affected individuals from 6 families with HMG-CoA synthase deficiency, age at onset ranged from 6 months to 4.5y
Created: 12 Mar 2025, 1:27 a.m. | Last Modified: 12 Mar 2025, 1:27 a.m.
Panel Version: 1.1568

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
  • Mackenzie's Mission
Phenotypes
  • HMG-CoA synthase-2 deficiency, 605911 (3)
OMIM
600234
Clinvar variants
Variants in HMGCS2
Penetrance
None
Publications
Panels with this gene

History Filter Activity

13 Mar 2025, Gel status: 3

Entity classified by Genomics England curator

Lilian Downie (Victorian Clinical Genetics Services)

Gene: hmgcs2 has been classified as Green List (High Evidence).

13 Mar 2025, Gel status: 3

Set publications

Lilian Downie (Victorian Clinical Genetics Services)

Publications for gene: HMGCS2 were set to

2 Nov 2023, Gel status: 3

Set Phenotypes

Seb Lunke (Victorian Clinical Genetics Services)

Added phenotypes HMG-CoA synthase-2 deficiency, 605911 (3) for gene: HMGCS2

1 Jun 2022, Gel status: 3

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: HMGCS2 was added gene: HMGCS2 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: HMGCS2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: HMGCS2 were set to HMG-CoA synthase-2 deficiency, 605911 (3)