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  2. Hereditary Neuropathy_CMT - isolated
  3. MTMR2
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Hereditary Neuropathy_CMT - isolated

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

More than 10 unrelated families reported, mouse model.
Created: 8 May 2021, 3:27 a.m. | Last Modified: 8 May 2021, 3:27 a.m.
Panel Version: 0.131

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

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

Publications

Created: 8 May 2021, 3:27 a.m.
Last Modified: 8 May 2021, 3:27 a.m.
Panel version: 0.131

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Charcot-Marie-Tooth disease, type 4B1, 601382
  • HMSN
  • MONDO:0011066
OMIM
603557
Clinvar variants
Variants in MTMR2
Penetrance
None
Publications
Panels with this gene

History Filter Activity

8 May 2021, 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).

8 May 2021, 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; HMSN to Charcot-Marie-Tooth disease, type 4B1, 601382; HMSN; MONDO:0011066

8 May 2021, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: MTMR2 were set to

13 Jan 2020, Gel status: 3

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

Bryony Thompson (Royal Melbourne Hospital)

gene: MTMR2 was added gene: MTMR2 was added to Hereditary Neuropathy - isolated_RMH. Sources: Royal Melbourne Hospital,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; HMSN