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Possible mitochondrial disorder - nuclear genes

Gene: HMGCS2

Red List (low evidence)
HMGCS2 (3-hydroxy-3-methylglutaryl-CoA synthase 2)
EnsemblGeneIds (GRCh38): ENSG00000134240
EnsemblGeneIds (GRCh37): ENSG00000134240
OMIM: 600234, Gene2Phenotype
HMGCS2 is in 9 panels

1 review

Ivone Leong (Genomics England Curator)

Red List (low evidence)

Initial gene list and info collated by Carl Fratter (Oxford University Hospitals NHS Trust) January 2019 on behalf of the GMS Mitochondrial specialist test group.
Created: 4 Feb 2019, 1:36 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
HMG-CoA synthase-2 deficiency, 605911

Created: 4 Feb 2019, 1:36 p.m.

Panel version: 0.5

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Expert Review Red
Phenotypes
  • HMG-CoA synthase-2 deficiency, 605911
OMIM
600234
Clinvar variants
Variants in HMGCS2
Penetrance
None
Panels with this gene

History Filter Activity

4 Feb 2019, Gel status: 1

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

Ivone Leong (Genomics England Curator)

gene: HMGCS2 was added gene: HMGCS2 was added to Possible mitochondrial disorder - nuclear genes. Sources: Expert Review Red,NHS GMS 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