Hyperammonaemia
Gene: CA5A

CA5A (carbonic anhydrase 5A)
EnsemblGeneIds (GRCh38): ENSG00000174990
EnsemblGeneIds (GRCh37): ENSG00000174990
OMIM: 114761, Gene2Phenotype
CA5A is in 9 panels

2 reviews

Peter Clayton (UCL Institute of Child Health)

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Hyperammonaemia due to carbonic anhydrase defciency

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. Numerous variants reported. Three variants identified in four children in three unrelated families (one consanguineous), in vitro and biochemical evidence supporting the effect of these variants is reported (PMID 24530203)
Created: 18 Aug 2016, 2:40 p.m.

Created: 18 Aug 2016, 2:40 p.m.

Panel version: 0.117

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Green
Radboud University Medical Center, Nijmegen

Phenotypes

Hyperammonemia due to carbonic anhydrase VA deficiency 615751

OMIM

114761

Clinvar variants

Variants in CA5A

Penetrance

Complete

Publications

24530203

Panels with this gene