Fetal anomalies
Gene: CA5A

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

1 review

Rebecca Foulger (Genomics England curator)

I don't know

DDG2P rating in original PAGE list: Probable for HYPERAMMONEMIA DUE TO CARBONIC ANHYDRASE VA DEFICIENCY
Created: 11 Dec 2018, 9:04 a.m.

Created: 11 Dec 2018, 9:04 a.m.

Panel version: 0.9

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Amber
PAGE DD-Gene2Phenotype

Phenotypes

HYPERAMMONEMIA DUE TO CARBONIC ANHYDRASE VA DEFICIENCY

OMIM

114761

Clinvar variants

Variants in CA5A

Penetrance

None

Panels with this gene

History Filter Activity

8 Nov 2018, Gel status: 2

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

Rebecca Foulger (Genomics England curator)

gene: CA5A was added gene: CA5A was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber Mode of inheritance for gene: CA5A was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: CA5A were set to HYPERAMMONEMIA DUE TO CARBONIC ANHYDRASE VA DEFICIENCY

Fetal anomalies Gene: CA5A