BRIDGE_SPEED_NEURO_20170705
Gene: MYO7A

MYO7A (myosin VIIA)
EnsemblGeneIds (GRCh38): ENSG00000137474
EnsemblGeneIds (GRCh37): ENSG00000137474
OMIM: 276903, Gene2Phenotype
MYO7A is in 11 panels

1 review

BRIDGE consortium (NIHRBR-RD)

Green List (high evidence)

This is a pertinent gene from the NIHR BioResource - Rare Diseases Study (NIHRBR-RD) BRIDGE Study : SPEED (Specialist Pathology: Evaluating Exomes in Diagnostics) which covers epilepsies, movement and microcephaly disorders, this gene is on the SPEED_NEURO_20170705 gene list. Evidences used for SPEED NEURO gene list: in_ddg2p_20141118_conf;in_ddg2p_20141118_conf;in_ddg2p_201507;in_ddg2p_201507_conf;in_ddg2p_2_4_2017;in_ddg2p_2_4_2017_conf . Main mutation mechanism : Loss of function
Created: 28 Jul 2017, 9:54 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Publications

25529582

Created: 2 Aug 2017, 5:13 p.m.

Panel version: 0.191

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

BRIDGE study SPEED NEURO Tier1 Gene
Expert Review Green

Phenotypes

Usher syndrome, type 1B, 276900
Deafness, autosomal recessive 2, 600060
Deafness, autosomal dominant 11, 601317

OMIM

276903

Clinvar variants

Variants in MYO7A

Penetrance

Complete

Panels with this gene

History Filter Activity

27 Jul 2017, Gel status: 0

Created

Louise Daugherty (Genomics England Curator)

MYO7A was created by LouiseD

27 Jul 2017, Gel status: 4

Added New Source