Mitochondrial disease
Gene: CA5A

CA5A (carbonic anhydrase 5A)
EnsemblGeneIds (GRCh38): ENSG00000174990
EnsemblGeneIds (GRCh37): ENSG00000174990
OMIM: 114761, Gene2Phenotype
CA5A is in 7 panels

2 reviews

Elena Savva (Victorian Clinical Genetics Services)

Green List (high evidence)

Loss of function - transfected Sf9 cells show a 75% decreas in enzyme activity and more thermal instability (PMID: 26913920)

CNVs commonly reported (PMID: 26913920, PMID: 32381389).
Created: 1 Sep 2020, 2:48 a.m. | Last Modified: 1 Sep 2020, 2:48 a.m.

Panel Version: 0.4059

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Hyperammonemia due to carbonic anhydrase VA deficiency, 615751

Publications

PMID: 26913920
32381389

Created: 1 Sep 2020, 2:48 a.m.
Last Modified: 1 Sep 2020, 2:48 a.m.
Panel version: Imported from Mendeliome panel version 0.4059

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Acute onset of encephalopathy in infancy or early childhood with metabolic acidosis and respiratory alkalosis, hypoglycemia, increased serum lactate and alanine, and evidence of impaired provision of bicarbonate to essential mitochondrial enzymes. Episodic acute events in early childhood with intercurrent illness but relatively limited neurological sequelae.
Sources: Expert list
Created: 11 Mar 2020, 6:25 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Hyperammonemia due to carbonic anhydrase VA deficiency, MIM# 615751

Created: 11 Mar 2020, 6:25 a.m.

Panel version: 0.112

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Green
Expert list

Phenotypes

Hyperammonemia due to carbonic anhydrase VA deficiency, MIM# 615751

Tags

SV/CNV treatable

OMIM

114761

Clinvar variants

Variants in CA5A

Penetrance

None

Panels with this gene