Congenital myopathy
Gene: COL12A1
Gene rating and review submitted by Rachael Mein, Viapath Guy's Hospital February 2019 on on behalf of London South GLH for the GMS Neurology specialist test group.Created: 30 Apr 2019, 10:09 a.m.
Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
EDS/myopathy overlap syndrome
Publications
Variants in this GENE are reported as part of current diagnostic practice
Comment when marking as ready: 3 cases from 2 families and relevant mouse model in literature. Appropriate to include.Created: 7 Mar 2017, 2:49 p.m.
Comment on list classification: 3 cases from 2 families and relevant mouse model in literatureCreated: 7 Mar 2017, 2:49 p.m.
Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
EDS/myopathy overlap syndrome
Publications
Source NHS GMS was added to COL12A1.
Source London South GLH was added to COL12A1. Rating Changed from Green List (high evidence) to Green List (high evidence)
This gene has been classified as Green List (High Evidence).
This gene has been classified as Green List (High Evidence).
COL12A1 was added to Congenital myopathypanel. Sources: UCL
COL12A1 was created by anna.sarkozy