Renal tubulopathies
Gene: CA2EnsemblGeneIds (GRCh38): ENSG00000104267
EnsemblGeneIds (GRCh37): ENSG00000104267
OMIM: 611492, Gene2Phenotype
CA2 is in 7 panels
4 reviews
Eleanor Williams (Genomics England Curator)
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 providedCreated: 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)
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 agreementCreated: 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
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)
Gene classified by Genomics England curator
Damian Smedley (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Set publications
Damian Smedley (Genomics England Curator)Publications for CA2 were set to 1301935
Added New Source
Eik Haraldsdottir (Genomics England)CA2 was added to Renal tubular acidosispanel. Sources: Expert
Added New Source
GEL ()CA2 was added to Renal tubular acidosispanel. Sources: UKGTN
Added New Source
GEL ()CA2 was added to Renal tubular acidosispanel. Sources: Illumina TruGenome Clinical Sequencing Services
Added New Source
GEL ()CA2 was added to Renal tubular acidosispanel. Sources: Radboud University Medical Center, Nijmegen