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Intellectual disability update Jan 2018

Gene: MTMR2

Red List (low evidence)
MTMR2 (myotubularin related protein 2)
EnsemblGeneIds (GRCh38): ENSG00000087053
EnsemblGeneIds (GRCh37): ENSG00000087053
OMIM: 603557, Gene2Phenotype
MTMR2 is in 3 panels

1 review

Louise Daugherty (Genomics England Curator)

Comment on list classification: Demoting from Amber to Red. Absent in Developmental Disorders Genotype-Phenotype Database (DDG2P), there doesn’t seem to be clear genotype/phenotype correlation for ID, only for movement. This gene is involved in Delayed motor development. MTMR2 is currently a Green gene on our Charcot-Marie-Tooth disease Panel.
Created: 20 Feb 2018, 11:28 a.m.
Created: 20 Feb 2018, 11:28 a.m.

Panel version: 0.50

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • BRIDGE study SPEED NEURO Tier1 Gene
Phenotypes
  • Charcot-Marie-Tooth disease, type 4B, 601382
OMIM
603557
Clinvar variants
Variants in MTMR2
Penetrance
None
Panels with this gene

History Filter Activity

20 Feb 2018, Gel status: 1

Gene classified by Genomics England curator

Louise Daugherty (Genomics England Curator)

This gene has been classified as Red List (Low Evidence).

20 Feb 2018, Gel status: 2

Set mode of inheritance

Louise Daugherty (Genomics England Curator)

Mode of inheritance for MTMR2 was changed from to BIALLELIC, autosomal or pseudoautosomal

20 Feb 2018, Gel status: 2

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Phenotypes for MTMR2 were set to Charcot-Marie-Tooth disease, type 4B, 601382

20 Feb 2018, Gel status: 2

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Phenotypes for MTMR2 were set to Charcot-Marie-Tooth disease, type 4B1; 601382

18 Dec 2017, Gel status: 2

Added New Source

Ellen McDonagh (Genomics England Curator)

MTMR2 was added to Intellectual disability update Jan 2018 panel. Sources: BRIDGE study SPEED NEURO Tier1 Gene,Expert Review Amber

18 Dec 2017, Gel status: 2

Created

Ellen McDonagh (Genomics England Curator)

MTMR2 was created by Ellen McDonagh