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Intellectual disability update Jan 2018

Gene: MTM1

Red List (low evidence)
MTM1 (myotubularin 1)
EnsemblGeneIds (GRCh38): ENSG00000171100
EnsemblGeneIds (GRCh37): ENSG00000171100
OMIM: 300415, Gene2Phenotype
MTM1 is in 7 panels

1 review

Eleanor Williams (Genomics England Curator)

Comment on list classification: Associated with Myotubular myopathy, X-linked 310400 in OMIM and Gene2Phenotype but no evidence found of association with Intellectual Disability in OMIM, Gene2Phenotype or PubMed searches.
Created: 8 Mar 2018, 3:17 p.m.
Created: 8 Mar 2018, 3:03 p.m.

Panel version: 0.459

History Filter Activity

8 Mar 2018, Gel status: 1

Gene classified by Genomics England curator

Eleanor Williams (Genomics England Curator)

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

18 Dec 2017, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

MTM1 was added to Intellectual disability update Jan 2018 panel. Sources: Emory Genetics Laboratory,Expert Review Red

18 Dec 2017, Gel status: 1

Created

Ellen McDonagh (Genomics England Curator)

MTM1 was created by Ellen McDonagh