Skeletal dysplasia

Gene: ATP6V0A2

Green List (high evidence)

Listed in OI and decreasing bone density gp of SD. >3 cases reported.; Review on behalf of Tracy Lester

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

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Cutis laxa, autosomal recessive, type IIA 219200

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: ATP6V0A2; Initial rating suggestion: green

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

Comment when marking as ready: Four variants reported in CDG - Cutis laxa, autosomal recessive, type IIA 219200; Wrinkly skin syndrome 278250.

Created: 13 Jul 2016, 7:41 a.m.

Comment on phenotypes: Variant also reported in Wrinkly skin syndrome 278250

Created: 13 Jul 2016, 7:41 a.m.

Comment on list classification: Used diagnostically by Ana Beleza (Guy's and St Thomas' NHS Foundation Trust)

Created: 21 Jun 2016, 12:29 p.m.

Green List (high evidence)

Tier 3

Created: 17 Jun 2016, 8:01 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
CDG - Cutis laxa, autosomal recessive, type IIA 219200; Wrinkly skin syndrome 278250

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