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Prepair 1000+

Gene: MTMR2

Green List (high evidence)
MTMR2 (myotubularin related protein 2)
EnsemblGeneIds (GRCh38): ENSG00000087053
EnsemblGeneIds (GRCh37): ENSG00000087053
OMIM: 603557, Gene2Phenotype
MTMR2 is in 6 panels

1 review

Lucy Spencer (Victorian Clinical Genetics Services)

Green List (high evidence)

OMIM: the designation CMT4 is applied to autosomal recessive forms of demyelinating Charcot-Marie-Tooth disease, which is a peripheral neuropathy characterized by distal motor and sensory impairment resulting in gait difficulties and associated with foot deformities. Motor nerve conduction velocities are decreased, and sural nerve biopsies show loss of myelinated fibers. The age at onset and severity is variable (summary by Patzko and Shy, 2012).

Charcot-Marie-Tooth disease, type 4B1 MIM#601382 has a mean age of onset of 34 months, death in 4th to 5th decade, and a severe clinical course.
Created: 11 Oct 2024, 4:32 a.m. | Last Modified: 11 Oct 2024, 4:32 a.m.
Panel Version: 1.390

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Charcot-Marie-Tooth disease, type 4B1 MIM#601382

Created: 11 Oct 2024, 4:32 a.m.
Last Modified: 11 Oct 2024, 4:32 a.m.
Panel version: 1.390

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Charcot-Marie-Tooth disease, type 4B1, MIM#601382
OMIM
603557
Clinvar variants
Variants in MTMR2
Penetrance
None
Panels with this gene

History Filter Activity

11 Oct 2024, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: mtmr2 has been classified as Green List (High Evidence).

11 Oct 2024, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: MTMR2 were changed from Charcot-Marie-Tooth disease, type 4B1, 601382 (3) to Charcot-Marie-Tooth disease, type 4B1, MIM#601382

2 Nov 2023, Gel status: 3

Set Phenotypes

Seb Lunke (Victorian Clinical Genetics Services)

Added phenotypes Charcot-Marie-Tooth disease, type 4B1, 601382 (3) for gene: MTMR2

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: MTMR2 was added gene: MTMR2 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: MTMR2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: MTMR2 were set to Charcot-Marie-Tooth disease, type 4B1, 601382 (3)