Neonatal cholestasis

Gene: GALE

Green List (high 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)

Green List (high evidence)

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 to support a gene-disease association.

After discussion with the Genomics England Clinical Team, it was decided that this gene should be added a Green gene on this panel as the phenotype can mimic cholestasis with a presentation with jaundice.
Sources: Expert Review, Literature
Created: 16 Nov 2020, 10 a.m. | Last Modified: 16 Nov 2020, 10:09 a.m.
Panel Version: 1.9

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Galactose epimerase deficiency, OMIM:230350; MONDO:0009257



Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
  • Expert Review Green
  • Literature
  • Expert Review
  • Galactose epimerase deficiency, OMIM:230350
  • MONDO:0009257
Clinvar variants
Variants in GALE
Panels with this gene

History Filter Activity

16 Nov 2020, Gel status: 3

Entity classified by Genomics England curator

Ivone Leong (Genomics England Curator)

Gene: gale has been classified as Green List (High Evidence).

16 Nov 2020, Gel status: 1

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

Ivone Leong (Genomics England Curator)

gene: GALE was added gene: GALE was added to Neonatal cholestasis. Sources: Expert Review,Literature 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 GREEN