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Newborns main panel

Gene: CA5A

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

1 review

Mafalda Gomes (Genomics England Curator)

The mechanism of pathogenicity is loss-of-function (LOF).
Created: 1 Jun 2023, 2:40 p.m. | Last Modified: 1 Jun 2023, 2:40 p.m.
Panel Version: 0.137
CA5A curation results (clinicalgenome.org)
Created: 1 Jun 2023, 12:22 p.m. | Last Modified: 1 Jun 2023, 12:22 p.m.
Panel Version: 0.134
half of cases due to deletion/duplication
Created: 1 Jun 2023, 12:20 p.m. | Last Modified: 1 Jun 2023, 12:20 p.m.
Panel Version: 0.133
Created: 1 Jun 2023, 12:20 p.m.
Last Modified: 1 Jun 2023, 12:20 p.m.
Panel version: 0.137

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Hyperammonemia due to carbonic anhydrase VA deficiency
OMIM
114761
Clinvar variants
Variants in CA5A
Penetrance
None
Panels with this gene

History Filter Activity

31 Dec 2025, Gel status: 3

Added New Source, Status Update

Arina Puzriakova (Genomics England Curator)

Source Expert Review Green was added to CA5A. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)

14 Sep 2023, Gel status: 2

Added New Source, Set Phenotypes, Status Update

Mafalda Gomes (Genomics England Curator)

Source Expert Review Amber was added to CA5A. Added phenotypes Hyperammonemia due to carbonic anhydrase VA deficiency for gene: CA5A Rating Changed from Green List (high evidence) to Amber List (moderate evidence)

14 Jul 2023, Gel status: 3

Set mode of inheritance

Mafalda Gomes (Genomics England Curator)

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

5 Jul 2023, Gel status: 3

Added New Source, Set mode of inheritance, Set Phenotypes, Status Update

Mafalda Gomes (Genomics England Curator)

Source Expert Review Green was added to CA5A. Mode of inheritance for gene CA5A was changed from BIALLELIC, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Added phenotypes Hyperammonemia due to carbonic anhydrase VA deficiency for gene: CA5A Rating Changed from Amber List (moderate evidence) to Green List (high evidence)

31 May 2023, Gel status: 2

Added New Source, Set Phenotypes, Status Update

Mafalda Gomes (Genomics England Curator)

Source Expert Review Amber was added to CA5A. Added phenotypes Hyperammonemia due to carbonic anhydrase VA deficiency for gene: CA5A Rating Changed from Green List (high evidence) to Amber List (moderate evidence)

5 May 2023, Gel status: 3

Added New Source, Set Phenotypes, Status Update

Mafalda Gomes (Genomics England Curator)

Source Expert Review Green was added to CA5A. Added phenotypes Hyperammonemia due to carbonic anhydrase VA deficiency for gene: CA5A Rating Changed from Amber List (moderate evidence) to Green List (high evidence)

9 Mar 2023, Gel status: 2

Set Phenotypes

Mafalda Gomes (Genomics England Curator)

Added phenotypes Hyperammonemia due to carbonic anhydrase VA deficiency for gene: CA5A

9 Mar 2023, Gel status: 2

Created, Added New Source, Set mode of inheritance

Mafalda Gomes (Genomics England Curator)

gene: CA5A was added gene: CA5A was added to Newborns main panel. Sources: Expert Review Amber Mode of inheritance for gene: CA5A was set to BIALLELIC, autosomal or pseudoautosomal