Congenital myopathy
Gene: EPG5
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
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
vacuolar myopathy?
Publications
Variants in this GENE are reported as part of current diagnostic practice
Comment when marking as ready: 18 cases, 15 families therefore sufficient evidence for causation and phenotype includes myopathy.Created: 7 Mar 2017, 4:29 p.m.
Comment on list classification: 18 cases from 15 families including myopathy as a featureCreated: 7 Mar 2017, 4:28 p.m.
Phenotypes
vacuolar myopathy?
Phenotypes for gene: EPG5 were changed from vacuolar myopathy? to Vici syndrome, OMIM:242840
Source NHS GMS was added to EPG5.
Source London South GLH was added to EPG5. Rating Changed from Green List (high evidence) to Green List (high evidence)
Mode of inheritance for EPG5 was changed to BIALLELIC, autosomal or pseudoautosomal
This gene has been classified as Green List (High Evidence).
Publications for EPG5 were set to 23222957
This gene has been classified as Green List (High Evidence).
EPG5 was created by anna.sarkozy
EPG5 was added to Congenital myopathypanel. Sources: Expert Review