Skeletal dysplasia
Gene: ATP6V0A2
Listed in OI and decreasing bone density gp of SD. >3 cases reported.; Review on behalf of Tracy LesterCreated: 6 Mar 2019, 11:44 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Cutis laxa, autosomal recessive, type IIA 219200
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: greenCreated: 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 278250Created: 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.
Tier 3Created: 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
Added phenotypes Cutis laxa, autosomal recessive, type IIA 219200 for gene: ATP6V0A2
Source NHS GMS was added to ATP6V0A2. 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 ATP6V0A2 were set to Cutis laxa, autosomal recessive, type IIA 219200
Phenotypes for ATP6V0A2 were set to Cutis laxa, autosomal recessive, type IIA 219200
Mode of inheritance for ATP6V0A2 was changed to BIALLELIC, autosomal or pseudoautosomal
This gene has been classified as Green List (High Evidence).
ATP6V0A2 was added to Unexplained skeletal dysplasiapanel. Source: Emory Genetics Laboratory
ATP6V0A2 was added to Unexplained skeletal dysplasiapanel. Sources:
ATP6V0A2 was created by sleigh