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Prepair 1000+

Gene: MTM1

Green List (high evidence)
MTM1 (myotubularin 1)
EnsemblGeneIds (GRCh38): ENSG00000171100
EnsemblGeneIds (GRCh37): ENSG00000171100
OMIM: 300415, Gene2Phenotype
MTM1 is in 13 panels

1 review

Andrew Coventry (Victorian Clinical Genetics Services)

Green List (high evidence)

Well established myopathy gene, onset and severity variable, but includes severe neonatal onset form for affected males. Can sometimes present prenatally with arthrogryposis, diaphragmatic eventuation and polyhydramnios.

Female carriers routinely unaffected, but some reports in literature with facial and limb-girdle weakness - some with skewed x-inactivation determined, although this may not be primary source of disease etiology in females (PMID: 37176116; 32805447; 31541013).
Created: 2 Dec 2024, 3:29 a.m. | Last Modified: 2 Dec 2024, 3:29 a.m.
Panel Version: 1.633

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

Phenotypes
Myopathy, centronuclear, X-linked MIM#310400

Publications

Created: 2 Dec 2024, 3:29 a.m.
Last Modified: 2 Dec 2024, 3:29 a.m.
Panel version: 1.633

History Filter Activity

12 Dec 2024, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

12 Dec 2024, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: MTM1 were changed from Myotubular myopathy, X-linked, 310400 (3) to Myopathy, centronuclear, X-linked MIM#310400

12 Dec 2024, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: MTM1 were set to

2 Nov 2023, Gel status: 3

Set Phenotypes

Seb Lunke (Victorian Clinical Genetics Services)

Added phenotypes Myotubular myopathy, X-linked, 310400 (3) for gene: MTM1

1 Jun 2022, Gel status: 3

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: MTM1 was added gene: MTM1 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: MTM1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: MTM1 were set to Myotubular myopathy, X-linked, 310400 (3)