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Intellectual disability syndromic and non-syndromic

Gene: MTMR2

Red List (low evidence)

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

1 review

Chirag Patel (Genetic Health Queensland)

Red List (low evidence)

No ID as part of the neurological phenotype.
Created: 5 Dec 2019, 1:52 a.m. | Last Modified: 5 Dec 2019, 1:52 a.m.
Panel Version: 0.451

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

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

Details

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

History Filter Activity

5 Jan 2020, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: mtmr2 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: mtmr2 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 MTMR2. Source Expert list was added to MTMR2. Mode of inheritance for gene MTMR2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: MTMR2 were changed from to Charcot-Marie-Tooth disease, type 4B1; OMIM #601382

22 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: MTMR2 was added gene: MTMR2 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: MTMR2 was set to Unknown