BRIDGE_SPEED_NEURO_v2.0_20160416
Gene: MTM1

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

1 review

BRIDGE consortium (NIHRBR-RD)

Green List (high evidence)

ddg2p_20141118; ddg2p_20141118_conf; ddg2p_201507; ddg2p_201507_conf; GEL_ID_red_20160217; neuro_20160418_strict; Loss of function
Created: 7 Feb 2017, 4:36 p.m.

Mode of inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females

Phenotypes
Myotubular myopathy, X-linked, 310400

Variants in this GENE are reported as part of current diagnostic practice

Created: 7 Feb 2017, 4:36 p.m.

Panel version: 0.2

Details

Mode of Inheritance

X-LINKED: hemizygous mutation in males, biallelic mutations in females

Sources

BRIDGE

Phenotypes

Myotubular myopathy, X-linked, 310400

OMIM

300415

Clinvar variants

Variants in MTM1

Penetrance

Complete

Panels with this gene

History Filter Activity

7 Feb 2017, Gel status: 0

Created

Ellen McDonagh (Genomics England Curator)

MTM1 was created by ellenmcdonagh

7 Feb 2017, Gel status: 0

Added New Source