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Inborn errors of metabolism

Gene: CA5A

Green List (high evidence)

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

2 reviews

Sarah Leigh (Genomics England Curator)

Comment on list classification: This gene was added as Green due to the overall review and evidence assessment from the GMS mitochondrial specialist test group, submitted by Carl Fratter (May 2019) on behalf of GMS mitochondrial specialist test group: Multiple unrelated families; discussed & agreed that this should be included within 'primary mitochondrial disease' (symptoms include hyperammonemia, hyperlactatemia and ketonuria).
From panel: Possible mitochondrial disorder - nuclear genes (Version 0.187).
Created: 23 May 2019, 12:11 p.m.

Saikat Santra (Birmingham Children's Hospital)

Green List (high evidence)

Confirmed link to metabolic disease and not likely to be considered in first line metabolic testing and therefore appropriate for this panel. Metabolic abnormalities may disappear outside of illness so definitely worth adding to this panel.
Created: 3 Jan 2017, 11:22 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
  • London North GLH
  • NHS GMS
  • Expert Review Green
Phenotypes
  • Hyperammonemia due to carbonic anhydrase VA deficiency
  • Hyperammonemia (Urea cycle disorders and inherited hyperammonaemias)
OMIM
114761
Clinvar variants
Variants in CA5A
Penetrance
None
Publications
Panels with this gene

History Filter Activity

13 Feb 2019, Gel status: 4

Added New Source, Added New Source

Ivone Leong (Genomics England Curator)

Source NHS GMS was added to CA5A. Source London North GLH was added to CA5A.

8 Jan 2019, Gel status: 4

Panel promoted to version 1.0

Ellen McDonagh (Genomics England Curator)

Checked against super panel made up of the panel constituents. Ready to promote to version 1.

16 Dec 2018, Gel status: 4

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

Ellen McDonagh (Genomics England Curator)

gene: CA5A was added gene: CA5A was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: CA5A was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CA5A were set to 27604308 Phenotypes for gene: CA5A were set to Hyperammonemia due to carbonic anhydrase VA deficiency; Hyperammonemia (Urea cycle disorders and inherited hyperammonaemias)