Cholestasis

Gene: GALE

Green List (high evidence)

Clinical presentation can be jaundice, hepatomegaly, liver dysfunction therefore can mimic cholestasis presentation. Agree with GMS decision to upgrade to green

Created: 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

• PMID: 21290786

I don't know

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 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

• 27604308