Limb-Girdle Muscular Dystrophy and Distal Myopathy
Gene: MTM1

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

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Well established myopathy gene, onset and severity variable, but includes severe neonatal onset form.
Created: 15 May 2022, 1:33 a.m. | Last Modified: 15 May 2022, 1:33 a.m.

Panel Version: 0.14299

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

Phenotypes
Myopathy, centronuclear, X-linked, MIM# 310400

Publications

10790201

Created: 15 May 2022, 1:33 a.m.
Last Modified: 15 May 2022, 1:33 a.m.
Panel version: Imported from Mendeliome panel version 0.14299

Details

Mode of Inheritance

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

Sources

Expert Review Green
Expert Review Green
Royal Melbourne Hospital
Victorian Clinical Genetics Services

Phenotypes

Myotubular myopathy, X-linked, 310400

OMIM

300415

Clinvar variants

Variants in MTM1

Penetrance

None

Panels with this gene

History Filter Activity

13 Jan 2020, Gel status: 3

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

Bryony Thompson (Royal Melbourne Hospital)

gene: MTM1 was added gene: MTM1 was added to Limb Girdle Muscular Dystrophy_RMH. Sources: Royal Melbourne Hospital,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

Limb-Girdle Muscular Dystrophy and Distal Myopathy Gene: MTM1