Limb girdle muscular dystrophy

Gene: MTM1

Green List (high evidence)

MTM1 (myotubularin 1)
EnsemblGeneIds (GRCh38): ENSG00000171100
EnsemblGeneIds (GRCh37): ENSG00000171100
OMIM: 300415, Gene2Phenotype
MTM1 is in 8 panels

2 reviews

Louise Daugherty (Genomics England Curator)

Comment on list classification: New gene added by external expert and reviewed by curation team: appropriate phenotype, sufficient cases and external expert review all support gene-disease association and relevance to this panel to rate gene to Green.
Created: 8 Mar 2019, 2:51 p.m.
Comment on phenotypes: added OMIM phenotype
Created: 8 Mar 2019, 2:51 p.m.

Ana Topf (John Walton Muscular Dystrophy Research Centre)

Green List (high evidence)

Sources: Literature, Expert list
Created: 4 Mar 2019, 3:42 p.m.

Mode of inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females

Phenotypes
Myotubular myopathy, X-linked, 310400

Publications

Variants in this GENE are reported as part of current diagnostic practice

Details

Mode of Inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • NHS GMS
  • Yorkshire and North East GLH
  • Expert Review
  • Expert Review Green
Phenotypes
  • Myotubular myopathy, X-linked, 310400
OMIM
300415
Clinvar variants
Variants in MTM1
Penetrance
Incomplete
Publications
Panels with this gene

History Filter Activity

13 May 2019, Gel status: 4

Added New Source

Louise Daugherty (Genomics England Curator)

Source NHS GMS was added to MTM1.

13 May 2019, Gel status: 4

Added New Source

Louise Daugherty (Genomics England Curator)

Source Yorkshire and North East GLH was added to MTM1.

17 Apr 2019, Gel status: 4

Set mode of inheritance, Set Phenotypes, Set publications

Louise Daugherty (Genomics England Curator)

Mode of inheritance for gene MTM1 was changed from X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) to X-LINKED: hemizygous mutation in males, biallelic mutations in females Added phenotypes Myotubular myopathy, X-linked, 310400 for gene: MTM1 Publications for gene MTM1 were changed from 8640223; 9285787; 9305655; 10790201; 10502779 to 9305655; 9285787

17 Apr 2019, Gel status: 3

Added New Source, Status Update

Louise Daugherty (Genomics England Curator)

Source Expert Review was added to MTM1. Rating Changed from Green List (high evidence) to Green List (high evidence)

8 Mar 2019, Gel status: 3

Entity classified by Genomics England curator

Louise Daugherty (Genomics England Curator)

Gene: mtm1 has been classified as Green List (High Evidence).

8 Mar 2019, Gel status: 0

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Phenotypes for gene: MTM1 were changed from 310400 to Myotubular myopathy, X-linked, 310400

4 Mar 2019, Gel status: 0

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

Ana Topf (John Walton Muscular Dystrophy Research Centre)

gene: MTM1 was added gene: MTM1 was added to Limb girdle muscular dystrophy. Sources: Literature,Expert list Mode of inheritance for gene: MTM1 was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Publications for gene: MTM1 were set to 8640223; 9285787; 9305655; 10790201; 10502779 Phenotypes for gene: MTM1 were set to 310400 Penetrance for gene: MTM1 were set to Incomplete Review for gene: MTM1 was set to GREEN gene: MTM1 was marked as current diagnostic