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  2. Congenital myopathy
  3. MTMR14
STRs in panel
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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.

Panel version: 1.76

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.

Panel version: 1.158

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.

Panel version: 1.15

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.

Panel version: 1.0

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • NHS GMS
  • London South GLH
  • Expert Review Amber
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

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

Phenotypes for gene: MTMR14 were changed from centronuclear myopathy; Centronuclear myopathy, autosomal, modifier of, 160150 to {Centronuclear myopathy, autosomal, modifier of}, OMIM:160150

17 Oct 2019, Gel status: 2

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Phenotypes for gene: MTMR14 were changed from centronuclear myopathy to centronuclear myopathy; Centronuclear myopathy, autosomal, modifier of, 160150

30 Apr 2019, Gel status: 2

Added New Source

Louise Daugherty (Genomics England Curator)

Source NHS GMS was added to MTMR14.

30 Apr 2019, Gel status: 2

Added New Source

Louise Daugherty (Genomics England Curator)

Source London South GLH was added to MTMR14.

7 Mar 2017, Gel status: 2

Gene classified by Genomics England curator

Helen Brittain (Genomics England Curator)

This gene has been classified as Amber List (Moderate Evidence).

7 Mar 2017, Gel status: 2

Set publications

Helen Brittain (Genomics England Curator)

Publications for MTMR14 were set to 19465920

7 Mar 2017, Gel status: 2

Gene classified by Genomics England curator

Helen Brittain (Genomics England Curator)

This gene has been classified as Amber List (Moderate Evidence).

6 Mar 2017, Gel status: 0

Added New Source

Anna Sarkozy (Great Ormond Street Hospital)

MTMR14 was added to Congenital myopathypanel. Sources: Expert Review

6 Mar 2017, Gel status: 0

Created

Anna Sarkozy (Great Ormond Street Hospital)

MTMR14 was created by anna.sarkozy