1. Panels
  2. Congenital muscular dystrophy and congenital myopathy
  3. MTMR14
STRs in panel
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Congenital muscular dystrophy and congenital myopathy

Gene: MTMR14

Amber List (moderate evidence)
MTMR14 (myotubularin related protein 14)
EnsemblGeneIds (GRCh38): ENSG00000163719
EnsemblGeneIds (GRCh37): ENSG00000163719
OMIM: 611089, Gene2Phenotype
MTMR14 is in 3 panels

4 reviews

Louise Daugherty (Genomics England Curator)

I don't know

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.
Created: 30 Apr 2019, 10:09 a.m.

Copied from panel: Congenital myopathy v3.65

Rachael Mein (Viapath at Guy's Hospital)

Green List (high evidence)

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Phenotypes
centronuclear myopathy

Publications

Created: 30 Apr 2019, 10:05 a.m.

Copied from panel: Congenital myopathy v3.65

Helen Brittain (Genomics England Curator)

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 model
Created: 7 Mar 2017, 3 p.m.
Created: 7 Mar 2017, 3 p.m.

Copied from panel: Congenital myopathy v3.65

Anna Sarkozy (Great Ormond Street Hospital)

Green List (high evidence)

it is going to be added in the new diagnostic panel
Created: 6 Mar 2017, 12:14 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Phenotypes
centronuclear myopathy

Created: 6 Mar 2017, 12:14 p.m.

Copied from panel: Congenital myopathy v3.65

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • London South GLH
  • Expert Review
  • Expert Review Amber
  • NHS GMS
Phenotypes
  • {Centronuclear myopathy, autosomal, modifier of}, OMIM:160150
Tags
watchlist
OMIM
611089
Clinvar variants
Variants in MTMR14
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

3 Feb 2023, Gel status: 2

Created, Added New Source, Added Tag, Set mode of inheritance, Set publications, Set Phenotypes, Set penetrance

Arina Puzriakova (Genomics England Curator)

gene: MTMR14 was added gene: MTMR14 was added to Congenital muscular dystrophy and congenital myopathy. Sources: NHS GMS,Expert Review Amber,Expert Review,London South GLH watchlist tags were added to gene: MTMR14. Mode of inheritance for gene: MTMR14 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: MTMR14 were set to 19465920 Phenotypes for gene: MTMR14 were set to {Centronuclear myopathy, autosomal, modifier of}, OMIM:160150 Penetrance for gene: MTMR14 were set to Complete