Hyperammonaemia
Gene: HMGCS2

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

3 reviews

Peter Clayton (UCL Institute of Child Health)

Red List (low evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Mitochondrial 3-hydroxy-3-methylglutaryl coenzyme A synthase deficiency

Created: 5 Nov 2017, 2:41 a.m.

Panel version: 0

Sarah Leigh (Genomics England Curator)

Comment when marking as ready: Associated with phenotype in OMIM and G2P. At least six variants reported in four patients. This phenotype may not be relevant to this panel as it does not appear to include hyperammonaemia
Created: 18 Aug 2016, 1:38 p.m.

Created: 18 Aug 2016, 11:52 a.m.

Panel version: 0.48

Ellen McDonagh (Genomics England Curator)

Please note that phenotypes that already existed for this gene panel (viewed under Gene Summary) and Ensembl transcripts were accidently uploaded under Peter Clayton (UCL Institute of Child Health)'s review and were not suggested by him. We are working on a fix in PanelApp to correct this.
Created: 5 Nov 2015, 5:19 p.m.

Created: 5 Nov 2015, 5:19 p.m.

Panel version: 0

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Red
Illumina TruGenome Clinical Sequencing Services
Radboud University Medical Center, Nijmegen
UKGTN
Emory Genetics Laboratory

Phenotypes

HMG-CoA synthase-2 deficiency 605911

OMIM

600234

Clinvar variants

Variants in HMGCS2

Penetrance

Complete

Panels with this gene