Renal tubulopathies
Gene: CA2
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
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Osteopetrosis with RTA
Publications
Variants in this GENE are reported as part of current diagnostic practice
Comment when marking as ready: Known expert and OMIM in agreementCreated: 10 May 2016, 10:11 a.m.
Both Illumina and expert sources suggest a recessive mode of inheritance.Created: 8 Jul 2015, 1:21 p.m.
Source NHS GMS was added to CA2. Rating Changed from Green List (high evidence) to Green List (high evidence)
This gene has been classified as Green List (High Evidence).
Publications for CA2 were set to 1301935
CA2 was added to Renal tubular acidosispanel. Sources: Expert
CA2 was added to Renal tubular acidosispanel. Sources: UKGTN
CA2 was added to Renal tubular acidosispanel. Sources: Illumina TruGenome Clinical Sequencing Services
CA2 was added to Renal tubular acidosispanel. Sources: Radboud University Medical Center, Nijmegen