Renal Tubulopathies and related disorders

Gene: CA2

Green List (high evidence)

CA2 (carbonic anhydrase 2)
EnsemblGeneIds (GRCh38): ENSG00000104267
EnsemblGeneIds (GRCh37): ENSG00000104267
OMIM: 611492, Gene2Phenotype
CA2 is in 12 panels

1 review

Chirag Patel (Genetic Health Queensland)

Green List (high evidence)

Established gene-disease association
Created: 2 Dec 2022, 12:05 a.m. | Last Modified: 2 Dec 2022, 12:05 a.m.
Panel Version: 0.15

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Osteopetrosis, autosomal recessive 3, with renal tubular acidosis, MIM#259730

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Osteopetrosis, autosomal recessive 3, with renal tubular acidosis, MIM#259730
OMIM
611492
Clinvar variants
Variants in CA2
Penetrance
None
Publications
Panels with this gene

History Filter Activity

1 Dec 2022, Gel status: 3

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: CA2 was added gene: CA2 was added to Renal Tubulopathies and related disorders. Sources: Victorian Clinical Genetics Services,Expert Review Green Mode of inheritance for gene: CA2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CA2 were set to 34624559; 12566520; 33555497; 7627193 Phenotypes for gene: CA2 were set to Osteopetrosis, autosomal recessive 3, with renal tubular acidosis, MIM#259730