Skeletal dysplasia
Gene: CA2
AR. Listed in ostepetrosis and related disorders gp of SD. Several variants have been reported - mostly North Africa/Middle East where a splice -site variant is prevalent. Can be diagnosed biochemically?; Review on behalf of Tracy LesterCreated: 6 Mar 2019, 11:44 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Osteopetrosis, autosomal recessive 3, with renal tubular acidosis 259730
This gene was part of an initial gene list collated by Tracy Lester, Oxford Medical Genetics Laboratories, Oxford University Hospitals NHS Foundation Trust, February 2019 on behalf of the GMS Musculoskeletal Specialist Group; Gene symbol submitted: CA2; Initial rating suggestion: greenCreated: 6 Mar 2019, 11:36 a.m.
Listed as associated with Skeletal Dysplasia by Gene Advisor (June 2016), Steve AbbsCreated: 27 Jul 2016, 9:27 a.m.
Comment when marking as ready: Osteopetrosis, autosomal recessive 3, with renal tubular acidosis 259730Created: 13 Jul 2016, 7:51 a.m.
Comment on list classification: Used diagnostically by Ana Beleza (Guy's and St Thomas' NHS Foundation Trust)Created: 21 Jun 2016, 12:30 p.m.
Tier 1Created: 17 Jun 2016, 8:02 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Osteopetrosis, autosomal recessive 3, with renal tubular acidosis 259730
Variants in this GENE are reported as part of current diagnostic practice
Added phenotypes Osteopetrosis, autosomal recessive 3, with renal tubular acidosis 259730 for gene: CA2
Source NHS GMS was added to CA2. Rating Changed from Green List (high evidence) to Green List (high evidence)
Promoted to version 1 9th August 2016
This gene has been classified as Green List (High Evidence).
Phenotypes for CA2 were set to Osteopetrosis, autosomal recessive 3, with renal tubular acidosis 259730
Mode of inheritance for CA2 was changed to BIALLELIC, autosomal or pseudoautosomal
This gene has been classified as Green List (High Evidence).
CA2 was created by sleigh
CA2 was added to Unexplained skeletal dysplasiapanel. Sources: