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Intellectual disability syndromic and non-syndromic

Gene: MTM1

Red List (low evidence)

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

1 review

Chirag Patel (Genetic Health Queensland)

Red List (low evidence)

No ID but delayed motor development as part of phenotype of neuromuscular disorder.
Created: 5 Dec 2019, 1:43 a.m. | Last Modified: 5 Dec 2019, 1:43 a.m.
Panel Version: 0.445

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

Phenotypes
Myotubular myopathy, X-linked; OMIM#310400

History Filter Activity

5 Jan 2020, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: mtm1 has been classified as Red List (Low Evidence).

5 Dec 2019, Gel status: 1

Entity classified by Genomics England curator

Chirag Patel (Genetic Health Queensland)

Gene: mtm1 has been classified as Red List (Low Evidence).

5 Dec 2019, Gel status: 3

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

Chirag Patel (Genetic Health Queensland)

Source Genetic Health Queensland was removed from MTM1. Source Expert list was added to MTM1. Mode of inheritance for gene MTM1 was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: MTM1 were changed from to Myotubular myopathy, X-linked; OMIM#310400

22 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: MTM1 was added gene: MTM1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: MTM1 was set to Unknown