Cholestasis
Gene: GALK1

GALK1 (galactokinase 1)
EnsemblGeneIds (GRCh38): ENSG00000108479
EnsemblGeneIds (GRCh37): ENSG00000108479
OMIM: 604313, Gene2Phenotype
GALK1 is in 10 panels

3 reviews

Catherine Snow (Genomics England)

Red List (low evidence)

The rating of this gene has been updated to RED following NHS Genomic Medicine Service approval.
Created: 31 Jan 2023, 2:01 p.m. | Last Modified: 31 Jan 2023, 2:01 p.m.

Panel Version: 2.3

Created: 31 Jan 2023, 2:01 p.m.
Last Modified: 31 Jan 2023, 2:01 p.m.
Panel version: 2.3

Miranda Durkie (Genetics)

I don't know

Can't find any publications on PubMed or OMIM which mention jaundice. Presentation of congenital cataracts most common
Created: 18 Jan 2022, 5:16 p.m. | Last Modified: 18 Jan 2022, 5:16 p.m.

Panel Version: 1.100

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Galactokinase deficiency with cataracts

Publications

PMID: 33413482
PMID: 28108845

Created: 18 Jan 2022, 5:16 p.m.
Last Modified: 18 Jan 2022, 5:16 p.m.
Panel version: 1.100

Ivone Leong (Genomics England Curator)

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, 10:20 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

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

Created: 16 Nov 2020, 10:20 a.m.

Panel version: 1.105

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

NHS GMS
Expert Review Red
Expert Review

Phenotypes

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

OMIM

604313

Clinvar variants

Variants in GALK1

Penetrance

None

Publications

Panels with this gene

History Filter Activity

31 Jan 2023, Gel status: 1

Removed Tag, Removed Tag, Removed Tag

Catherine Snow (Genomics England)

Tag Q1_22_NHS_review was removed from gene: GALK1. Tag Q2_22_rating was removed from gene: GALK1. Tag Q2_22_expert_review was removed from gene: GALK1.

31 Jan 2023, Gel status: 1

Added New Source, Added New Source, Status Update

Catherine Snow (Genomics England)

Source Expert Review Red was added to GALK1. Source NHS GMS was added to GALK1. Rating Changed from Green List (high evidence) to Red List (low evidence)

24 May 2022, Gel status: 3