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