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  3. CA5A
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Hyperammonaemia

Gene: CA5A

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

2 reviews

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.
Created: 1 Sep 2020, 4:50 a.m. | Last Modified: 1 Sep 2020, 4:50 a.m.
Panel Version: 0.4073

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Hyperammonemia due to carbonic anhydrase VA deficiency, 615751

Created: 1 Sep 2020, 4:50 a.m.
Last Modified: 1 Sep 2020, 4:50 a.m.
Panel version: Imported from Mendeliome panel version 0.4073

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

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

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Genomics England PanelApp
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Hyperammonemia due to carbonic anhydrase VA deficiency 615751
OMIM
114761
Clinvar variants
Variants in CA5A
Penetrance
None
Publications
Panels with this gene

History Filter Activity

29 Jan 2021, Gel status: 3

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: CA5A was added gene: CA5A was added to Hyperammonaemia. Sources: Genomics England PanelApp,Expert Review Green Mode of inheritance for gene: CA5A was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CA5A were set to 24530203 Phenotypes for gene: CA5A were set to Hyperammonemia due to carbonic anhydrase VA deficiency 615751