Renal tubulopathies

Gene: CA2

Green List (high evidence)

CA2 (carbonic anhydrase 2)
EnsemblGeneIds (GRCh38): ENSG00000104267
EnsemblGeneIds (GRCh37): ENSG00000104267
OMIM: 611492, Gene2Phenotype
CA2 is in 10 panels

4 reviews

Eleanor Williams (Genomics England Curator)

Green List (high evidence)

This gene was part of an initial gene list collated by Emma Ashton (NE Thames Regional Genetics laboratory, GOSH NHS Foundation Trust) January 2019 on behalf of the GMS Renal Specialist Test Group; Gene Symbol submitted: CA2; Suggested initial gene rating: green; Evidence for inclusion: none provided; Evidence for exclusion: none provided; Technical notes (e.g. non-coding/CNV mutations requiring coverage?): none provided
Created: 3 Feb 2019, 11:32 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

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

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

Fiona Karet (Universit y of Cambridge)

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Osteopetrosis with RTA

Publications

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

Damian Smedley (Genomics England Curator)

Comment when marking as ready: Known expert and OMIM in agreement
Created: 10 May 2016, 10:11 a.m.

Ellen McDonagh (Genomics England Curator)

Both Illumina and expert sources suggest a recessive mode of inheritance.
Created: 8 Jul 2015, 1:21 p.m.

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Expert Review Green
  • Expert
  • UKGTN
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Osteopetrosis, autosomal recessive 3, with renal tubular acidosis, 259730
  • Osteopetrosis with Renal Tubular Acidosis
OMIM
611492
Clinvar variants
Variants in CA2
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

3 Feb 2019, Gel status: 3

Added New Source, Status Update

Eleanor Williams (Genomics England Curator)

Source NHS GMS was added to CA2. Rating Changed from Green List (high evidence) to Green List (high evidence)

10 May 2016, Gel status: 4

Gene classified by Genomics England curator

Damian Smedley (Genomics England Curator)

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

10 May 2016, Gel status: 3

Set publications

Damian Smedley (Genomics England Curator)

Publications for CA2 were set to 1301935

8 May 2015, Gel status: 3

Added New Source

Eik Haraldsdottir (Genomics England)

CA2 was added to Renal tubular acidosispanel. Sources: Expert

28 Apr 2015, Gel status: 3

Added New Source

GEL ()

CA2 was added to Renal tubular acidosispanel. Sources: UKGTN

28 Apr 2015, Gel status: 2

Added New Source

GEL ()

CA2 was added to Renal tubular acidosispanel. Sources: Illumina TruGenome Clinical Sequencing Services

28 Apr 2015, Gel status: 1

Added New Source

GEL ()

CA2 was added to Renal tubular acidosispanel. Sources: Radboud University Medical Center, Nijmegen