Cholestasis

Gene: GALE

Amber List (moderate evidence)

GALE (UDP-galactose-4-epimerase)
EnsemblGeneIds (GRCh38): ENSG00000117308
EnsemblGeneIds (GRCh37): ENSG00000117308
OMIM: 606953, Gene2Phenotype
GALE is in 10 panels

1 review

Ivone Leong (Genomics England Curator)

I don't know

This gene is associated with an appropriate phenotype in OMIM and Gene2phenotype. It is a Green gene on Inborn errors of metabolism (v2.28) and Fetal anomalies (v1.111). There is enough evidence for a gene-disease association.

After discussion with the Genomics England Clinical Team, it was decided that this gene should be added as an Amber gene on this panel as the phenotype can mimic cholestasis with a presentation with jaundice.
Sources: Expert Review
Created: 16 Nov 2020, 10:19 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Galactose epimerase deficiency, OMIM:230350; MONDO:0009257

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Expert Review
Phenotypes
  • Galactose epimerase deficiency, OMIM:230350
  • MONDO:0009257
Tags
for-review
OMIM
606953
Clinvar variants
Variants in GALE
Penetrance
None
Publications
Panels with this gene

History Filter Activity

16 Nov 2020, Gel status: 2

Entity classified by Genomics England curator

Ivone Leong (Genomics England Curator)

Gene: gale has been classified as Amber List (Moderate Evidence).

16 Nov 2020, Gel status: 1

Created, Added New Source, Added Tag, Set mode of inheritance, Set publications, Set Phenotypes

Ivone Leong (Genomics England Curator)

gene: GALE was added gene: GALE was added to Cholestasis. Sources: Expert Review for-review tags were added to gene: GALE. Mode of inheritance for gene: GALE was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: GALE were set to 27604308 Phenotypes for gene: GALE were set to Galactose epimerase deficiency, OMIM:230350; MONDO:0009257 Review for gene: GALE was set to AMBER