Hyperammonaemia

Gene: CA5A

Green List (high evidence)

CA5A (carbonic anhydrase 5A)
EnsemblGeneIds (GRCh38): ENSG00000174990
EnsemblGeneIds (GRCh37): ENSG00000174990
OMIM: 114761, Gene2Phenotype
CA5A is in 10 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

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.

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
Panels with this gene

History Filter Activity

22 Nov 2016, Gel status: 4

panel promoted to version 1

Sarah Leigh (Genomics England Curator)

Promoted to version 1 on 22nd November 2016

18 Aug 2016, Gel status: 4

Gene classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

18 Aug 2016, Gel status: 4

Gene classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

18 Aug 2016, Gel status: 0

Set publications

Sarah Leigh (Genomics England Curator)

Publications for CA5A were set to 24530203

18 Aug 2016, Gel status: 0

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for CA5A were set to Hyperammonemia due to carbonic anhydrase VA deficiency 615751

18 Aug 2016, Gel status: 0

Upload gene information

Sarah Leigh (Genomics England Curator)

CA5A was added to Hyperammonaemiapanel. Sources: Radboud University Medical Center, Nijmegen

5 Nov 2015, Gel status: 0

Created

Peter Clayton (UCL Institute of Child Health)

CA5A was created by PeterTheodoreClayton

5 Nov 2015, Gel status: 0

Added New Source

Peter Clayton (UCL Institute of Child Health)

CA5A was added to Hyperammonaemiapanel. Sources: Expert Review