1. Panels
  2. Fatty Acid Oxidation Defects
  3. HMGCS2
STRs in panel
Prev Next
Regions in panel
Prev Next

Fatty Acid Oxidation Defects

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

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, 11:35 p.m. | Last Modified: 3 Jan 2021, 11:35 p.m.
Panel Version: 0.75

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
HMG-CoA synthase-2 deficiency, MIM# 605911

Publications

Created: 3 Jan 2021, 11:35 p.m.
Last Modified: 3 Jan 2021, 11:35 p.m.
Panel version: 0.75

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • 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

3 Jan 2021, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

3 Jan 2021, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: HMGCS2 were changed from to HMG-CoA synthase-2 deficiency, MIM# 605911

3 Jan 2021, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: HMGCS2 were set to

3 Jan 2021, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: HMGCS2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: HMGCS2 was added gene: HMGCS2 was added to Fatty Oxidation Defects_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: HMGCS2 was set to Unknown