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Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies
Gene: MTM1

MTM1 (myotubularin 1)
EnsemblGeneIds (GRCh38): ENSG00000171100
EnsemblGeneIds (GRCh37): ENSG00000171100
OMIM: 300415, Gene2Phenotype
MTM1 is in 7 panels

3 reviews

Arina Puzriakova (Genomics England Curator)

The mode of inheritance of this gene has been updated to 'X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)' following NHS Genomic Medicine Service approval.
Created: 1 Feb 2023, 11:31 a.m. | Last Modified: 1 Feb 2023, 11:31 a.m.

Panel Version: 3.6

Comment on mode of inheritance: Rare manifesting females have been reported in literature (PMID: 10323249; 11552027; 12707446; 15883335) as well as by review of Helen Brittain (Genomics England Clinical Team) providing details of a case identified in clinic - “Participant (female singleton) has a phenotype of distal myopathies with facial hypotonia, limb weakness, progressive weakness and abnormality of muscle morphology among the HPO terms".

MOI should therefore be updated form XLR to XLD at the next GMS review.
Created: 5 Jul 2022, 9:38 a.m. | Last Modified: 5 Jul 2022, 9:38 a.m.

Panel Version: 2.43

Created: 5 Jul 2022, 9:38 a.m.
Last Modified: 5 Jul 2022, 9:38 a.m.
Panel version: 3.6

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.

Created: 8 Mar 2019, 2:51 p.m.

Panel version: 1.14

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

Created: 4 Mar 2019, 3:42 p.m.

Panel version: 1.17

Details

Mode of Inheritance

X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)

Sources

NHS GMS
Yorkshire and North East GLH
Expert Review
Expert Review Green

Phenotypes

Myopathy, centronuclear, X-linked, OMIM:310400

OMIM

300415

Clinvar variants

Variants in MTM1

Penetrance

Incomplete

Publications

Panels with this gene

History Filter Activity

1 Feb 2023, Gel status: 3

Removed Tag

Arina Puzriakova (Genomics England Curator)

Tag Q3_22_MOI was removed from gene: MTM1.

1 Feb 2023, Gel status: 3

Set mode of inheritance

Arina Puzriakova (Genomics England Curator)

Mode of inheritance for gene MTM1 was changed from X-LINKED: hemizygous mutation in males, biallelic mutations in females to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)

5 Jul 2022, Gel status: 3

Set mode of inheritance

Arina Puzriakova (Genomics England Curator)

Mode of inheritance for gene: MTM1 was changed from X-LINKED: hemizygous mutation in males, biallelic mutations in females to X-LINKED: hemizygous mutation in males, biallelic mutations in females

5 Jul 2022, Gel status: 3

Added Tag

Arina Puzriakova (Genomics England Curator)

Tag Q3_22_MOI tag was added to gene: MTM1.

5 Jul 2022, Gel status: 3

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

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

13 May 2019, Gel status: 4