BRIDGE_SPEED_NEURO_20170705
Gene: GLE1

GLE1 (GLE1, RNA export mediator)
EnsemblGeneIds (GRCh38): ENSG00000119392
EnsemblGeneIds (GRCh37): ENSG00000119392
OMIM: 603371, Gene2Phenotype
GLE1 is in 7 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;in_omim_20150205_movement . Main mutation mechanism : All missense/in frame
Created: 28 Jul 2017, 9:14 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Publications

25529582
omim.org

Mode of pathogenicity
Other

Created: 2 Aug 2017, 3:40 p.m.

Panel version: 0.191

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Green
BRIDGE study SPEED NEURO Tier1 Gene

Phenotypes

Lethal congenital contracture syndrome 1, 253310
Arthrogryposis, lethal, with anterior horn cell disease, 611890

OMIM

603371

Clinvar variants

Variants in GLE1

Penetrance

Complete

Panels with this gene

History Filter Activity

27 Jul 2017, Gel status: 4

Added New Source

Louise Daugherty (Genomics England Curator)

GLE1 was added to BRIDGE_SPEED_NEURO_20170705panel. Sources: BRIDGE study SPEED NEURO Tier1 Gene,Expert Review Green

27 Jul 2017, Gel status: 0

Created