Congenital myopathy
Gene: MTMR14
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
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
centronuclear myopathy
Publications
Comment when marking as ready: Reviewer contacted to see if they have further cases, amber and watchlist on current evidence (mouse model with potential link to centronuclear myopathy in humans however this is debated as one case had concomitant DNM2 mutation therefore causality in humans requires further evidence)Created: 7 Mar 2017, 3:03 p.m.
Comment on publications: Mouse modelCreated: 7 Mar 2017, 3 p.m.
it is going to be added in the new diagnostic panelCreated: 6 Mar 2017, 12:14 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
centronuclear myopathy
Phenotypes for gene: MTMR14 were changed from centronuclear myopathy; Centronuclear myopathy, autosomal, modifier of, 160150 to {Centronuclear myopathy, autosomal, modifier of}, OMIM:160150
Phenotypes for gene: MTMR14 were changed from centronuclear myopathy to centronuclear myopathy; Centronuclear myopathy, autosomal, modifier of, 160150
Source NHS GMS was added to MTMR14.
Source London South GLH was added to MTMR14.
This gene has been classified as Amber List (Moderate Evidence).
Publications for MTMR14 were set to 19465920
This gene has been classified as Amber List (Moderate Evidence).
MTMR14 was added to Congenital myopathypanel. Sources: Expert Review
MTMR14 was created by anna.sarkozy