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
Galactose epimerase deficiency, OMIM:230350; MONDO:0009257
Gene: gale has been classified as Amber List (Moderate Evidence).
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