Congenital ophthalmoplegia

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

External ophthalmoplegia is a prominent feature.
Sources: Expert list
Created: 16 Nov 2020, 4:41 a.m.

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

Phenotypes
Myotubular myopathy, X-linked, MIM# 310400

History Filter Activity

16 Nov 2020, 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).

16 Nov 2020, 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).

16 Nov 2020, Gel status: 1

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 Congenital ophthalmoplegia. Sources: Expert list 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, MIM# 310400 Review for gene: MTM1 was set to GREEN