Neonatal cholestasis

Gene: GALK1

Green List (high 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)

Green List (high evidence)

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
Created: 16 Nov 2020, 10:09 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

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

Details

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

History Filter Activity

16 Nov 2020, Gel status: 3

Entity classified by Genomics England curator

Ivone Leong (Genomics England Curator)

Gene: galk1 has been classified as Green List (High Evidence).

16 Nov 2020, Gel status: 1

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

Ivone Leong (Genomics England Curator)

gene: GALK1 was added gene: GALK1 was added to Neonatal cholestasis. Sources: Expert Review 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 Review for gene: GALK1 was set to GREEN