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Intellectual disability

Gene: CA5A

Red List (low evidence)

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

3 reviews

Zornitza Stark (Australian Genomics)

Red List (low evidence)

Episodic metabolic decompensation rather than true ID, majority have had normal neurological outcome with appropriate treatment of acute crises.
Created: 30 Jan 2020, 12:49 a.m. | Last Modified: 30 Jan 2020, 12:49 a.m.
Panel Version: 3.0

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

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

Publications

Rebecca Foulger (Genomics England curator)

The Red review by Konstantinos Varvagiannis supports the current red rating of CA5A. Table 1 of PMID: 26913920 report 'normal' long-term neurological outcome in the majority of patients. CA5A is Green on the metabolism panels, which currently seem the appropriate panel(s) for testing. The ID phenotype of patients is variable, therefore have kept rating as Red pending further cases.
Created: 24 Oct 2019, 8:11 a.m. | Last Modified: 24 Oct 2019, 8:11 a.m.
Panel Version: 2.1069

Konstantinos Varvagiannis (Other)

Red List (low evidence)

Biallelic pathogenic CA5A mutations cause Hyperammonemia due to carbonic anhydrase VA deficiency (MIM 615751).

The following publications appear to be relevant - PMIDs : 26913920 (2016), 25834911 (2015), 24530203 (2014).

Although an initial review suggested normal psychomotor development in some and mild learning difficulties/delayed motor skills in other affected individuals (PMID: 25834911), a subsequent report and review suggests normal long term neurological outcome in the majority (at least 11/14) of affected individuals and mild difficullties in the remaining ones. [Summarized in Table 1 of PMID: 26913920 / Dr. van Karnebeek among the authors of all 3 studies].

As a result, red (or amber) rating seems appropriate. (The gene was already present in the ID panel, with red rating, though with no reviews.)
Created: 23 Sep 2019, 4:16 p.m. | Last Modified: 23 Sep 2019, 4:16 p.m.
Panel Version: 2.1046

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Hyperammonemia due to carbonic anhydrase VA deficiency (MIM 615751)

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • 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

24 Oct 2019, Gel status: 1

Set mode of inheritance

Rebecca Foulger (Genomics England curator)

Mode of inheritance for gene: CA5A was changed from to BIALLELIC, autosomal or pseudoautosomal

24 Oct 2019, Gel status: 1

Set Phenotypes

Rebecca Foulger (Genomics England curator)

Phenotypes for gene: CA5A were changed from to Hyperammonemia due to carbonic anhydrase VA deficiency, 615751

24 Oct 2019, Gel status: 1

Set publications

Rebecca Foulger (Genomics England curator)

Publications for gene: CA5A were set to

28 Sep 2018, Gel status: 1

Created, Added New Source, Set mode of inheritance

Louise Daugherty (Genomics England Curator)

gene: CA5A was added gene: CA5A was added to Intellectual disability. Sources: Victorian Clinical Genetics Services Mode of inheritance for gene: CA5A was set to