Neonatal cholestasis
Gene: GALK1
GALK1 (galactokinase 1)
EnsemblGeneIds (GRCh38): ENSG00000108479
EnsemblGeneIds (GRCh37): ENSG00000108479
OMIM: 604313, Gene2Phenotype
GALK1 is in 10 panels
EnsemblGeneIds (GRCh38): ENSG00000108479
EnsemblGeneIds (GRCh37): ENSG00000108479
OMIM: 604313, Gene2Phenotype
GALK1 is in 10 panels
1 review
Ivone Leong (Genomics England Curator)
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 ReviewCreated: 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