Mitochondrial disorders
Gene: CA5A
CA5A (carbonic anhydrase 5A)
EnsemblGeneIds (GRCh38): ENSG00000174990
EnsemblGeneIds (GRCh37): ENSG00000174990
OMIM: 114761, Gene2Phenotype
CA5A is in 9 panels
EnsemblGeneIds (GRCh38): ENSG00000174990
EnsemblGeneIds (GRCh37): ENSG00000174990
OMIM: 114761, Gene2Phenotype
CA5A is in 9 panels
1 review
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.
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- NHS GMS
- 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
23 May 2019, Gel status: 3
Set Phenotypes
Sarah Leigh (Genomics England Curator)Phenotypes for gene: CA5A were changed from to Hyperammonemia due to carbonic anhydrase VA deficiency, 615751
23 May 2019, Gel status: 3
Set publications
Sarah Leigh (Genomics England Curator)Publications for gene: CA5A were set to
23 May 2019, Gel status: 3
Set mode of inheritance
Sarah Leigh (Genomics England Curator)Mode of inheritance for gene: CA5A was changed from to BIALLELIC, autosomal or pseudoautosomal
23 May 2019, Gel status: 3
Entity classified by Genomics England curator
Sarah Leigh (Genomics England Curator)Gene: ca5a has been classified as Green List (High Evidence).
21 May 2019, Gel status: 4
Created, Added New Source, Set mode of inheritance
Sarah Leigh (Genomics England Curator)gene: CA5A was added gene: CA5A was added to Mitochondrial disorders. Sources: NHS GMS,Expert Review Green Mode of inheritance for gene: CA5A was set to