Cholestasis

Gene: GALK1

Amber List (moderate evidence)

GALK1 (galactokinase 1)
EnsemblGeneIds (GRCh38): ENSG00000108479
EnsemblGeneIds (GRCh37): ENSG00000108479
OMIM: 604313, Gene2Phenotype
GALK1 is in 11 panels

1 review

Ivone Leong (Genomics England Curator)

I don't know

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, 10:20 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Galactokinase deficiency with cataracts, OMIM:230200; MONDO:0009255 Edit

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Expert Review
Phenotypes
  • Galactokinase deficiency with cataracts, OMIM:230200
  • MONDO:0009255 Edit
Tags
for-review
OMIM
604313
Clinvar variants
Variants in GALK1
Penetrance
None
Panels with this gene

History Filter Activity

16 Nov 2020, Gel status: 2

Entity classified by Genomics England curator

Ivone Leong (Genomics England Curator)

Gene: galk1 has been classified as Amber List (Moderate Evidence).

16 Nov 2020, Gel status: 2

Entity classified by Genomics England curator

Ivone Leong (Genomics England Curator)

Gene: galk1 has been classified as Amber List (Moderate Evidence).

16 Nov 2020, Gel status: 1

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

Ivone Leong (Genomics England Curator)

gene: GALK1 was added gene: GALK1 was added to Cholestasis. Sources: Expert Review for-review tags were added to gene: GALK1. Mode of inheritance for gene: GALK1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: GALK1 were set to Galactokinase deficiency with cataracts, OMIM:230200; MONDO:0009255 Edit Review for gene: GALK1 was set to AMBER