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  3. CA2
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Osteopetrosis

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Well established gene-disease association.
Created: 15 Oct 2022, 12:45 a.m. | Last Modified: 15 Oct 2022, 12:45 a.m.
Panel Version: 0.24

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

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

Created: 15 Oct 2022, 12:45 a.m.
Last Modified: 15 Oct 2022, 12:45 a.m.
Panel version: 0.24

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
Panels with this gene

History Filter Activity

15 Oct 2022, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: ca2 has been classified as Green List (High Evidence).

15 Oct 2022, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: CA2 were changed from to Osteopetrosis, autosomal recessive 3, with renal tubular acidosis, MIM#259730

15 Oct 2022, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: CA2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: CA2 was added gene: CA2 was added to Osteopetrosis_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: CA2 was set to Unknown