Skeletal dysplasia

Gene: CA2

Green List (high evidence)

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 Lester

Created: 6 Mar 2019, 11:44 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

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

I don't know

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: green

Created: 6 Mar 2019, 11:36 a.m.

Green List (high evidence)

Listed as associated with Skeletal Dysplasia by Gene Advisor (June 2016), Steve Abbs

Created: 27 Jul 2016, 9:27 a.m.

Comment when marking as ready: Osteopetrosis, autosomal recessive 3, with renal tubular acidosis 259730

Created: 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.

Green List (high evidence)

Tier 1

Created: 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