BRIDGE_SPEED_NEURO_v2.0_20160416
Gene: GALE

GALE (UDP-galactose-4-epimerase)
EnsemblGeneIds (GRCh38): ENSG00000117308
EnsemblGeneIds (GRCh37): ENSG00000117308
OMIM: 606953, Gene2Phenotype
GALE is in 9 panels

1 review

BRIDGE consortium (NIHRBR-RD)

Green List (high evidence)

ddg2p_20141118; ddg2p_20141118_conf; ddg2p_201507; ddg2p_201507_conf; gilissen_2014_known; Nijmegen_ID_diagnostic; Nijmegen_ID_candidates; GEL_ID_green_20160217; neuro_20160418_strict; Loss of function
Created: 7 Feb 2017, 4:24 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Galactose epimerase deficiency, 230350

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

Created: 7 Feb 2017, 4:24 p.m.

Panel version: 0.2

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

BRIDGE

Phenotypes

Galactose epimerase deficiency, 230350

OMIM

606953

Clinvar variants

Variants in GALE

Penetrance

Complete

Panels with this gene

History Filter Activity

7 Feb 2017, Gel status: 0

Added New Source

Ellen McDonagh (Genomics England Curator)

GALE was added to BRIDGE_SPEED_NEURO_v2.0_20160416panel. Sources: BRIDGE

7 Feb 2017, Gel status: 0

Created