Cholestasis
Gene: GALE
Clinical presentation can be jaundice, hepatomegaly, liver dysfunction therefore can mimic cholestasis presentation. Agree with GMS decision to upgrade to greenCreated: 18 Jan 2022, 5:05 p.m. | Last Modified: 18 Jan 2022, 5:05 p.m.
Panel Version: 1.100
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Epimerase deficiency galactosemia
Publications
The rating of this gene has been updated following NHS Genomic Medicine Service approval.Created: 3 Mar 2022, 4:18 p.m. | Last Modified: 3 Mar 2022, 4:18 p.m.
Panel Version: 1.105
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 ReviewCreated: 16 Nov 2020, 10:19 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Galactose epimerase deficiency, OMIM:230350; MONDO:0009257
Publications
Tag for-review was removed from gene: GALE. Tag Q1_22_NHS_review was removed from gene: GALE.
Source Expert Review Green was added to GALE. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Tag Q1_22_NHS_review tag was added to gene: GALE.
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