1. Panels
  2. Nephrocalcinosis or nephrolithiasis
  3. CA2
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Nephrocalcinosis or nephrolithiasis

Gene: CA2

Green List (high evidence)
CA2 (carbonic anhydrase 2)
EnsemblGeneIds (GRCh38): ENSG00000104267
EnsemblGeneIds (GRCh37): ENSG00000104267
OMIM: 611492, Gene2Phenotype
CA2 is in 7 panels

2 reviews

Ellen McDonagh (Genomics England Curator)

Comment on list classification: Promoted from red to green due to expert review (and current diagnostic), and evidence in OMIM/G2P for association with Osteopetrosis, autosomal recessive 3, with renal tubular acidosis.
Created: 20 May 2016, 9:15 a.m.
Created: 20 May 2016, 9:15 a.m.

Panel version: 0.52

Fiona Karet (Universit y of Cambridge)

Green List (high evidence)

see RTA category
Created: 31 Oct 2015, 2:52 p.m.

Phenotypes
Osteopetrosis with RTA

Variants in this GENE are reported as part of current diagnostic practice

Created: 31 Oct 2015, 2:52 p.m.

Panel version: 0

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert
Phenotypes
  • Osteopetrosis, autosomal recessive 3, with renal tubular acidosis
OMIM
611492
Clinvar variants
Variants in CA2
Penetrance
Complete
Panels with this gene

History Filter Activity

20 May 2016, Gel status: 4

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

20 May 2016, Gel status: 4

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

20 May 2016, Gel status: 0

Set Phenotypes

Ellen McDonagh (Genomics England Curator)

Phenotypes for CA2 were set to Osteopetrosis, autosomal recessive 3, with renal tubular acidosis

8 May 2015, Gel status: 0

Added New Source

Eik Haraldsdottir (Genomics England)

CA2 was added to Renal tract calcification (or Nephrolithiasis/nephrocalcinosis)panel. Sources: Expert