Cholestasis
Gene: GALK1
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
Can't find any publications on PubMed or OMIM which mention jaundice. Presentation of congenital cataracts most commonCreated: 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
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 ReviewCreated: 16 Nov 2020, 10:20 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Galactokinase deficiency with cataracts, OMIM:230200; MONDO:0009255 Edit
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.
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)
Tag Q2_22_rating tag was added to gene: GALK1. Tag Q2_22_expert_review tag was added to gene: GALK1.
Tag for-review was removed from gene: GALK1.
Source Expert Review Green was added to GALK1. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Tag Q1_22_NHS_review tag was added to gene: GALK1.
Publications for gene: GALK1 were set to
Gene: galk1 has been classified as Amber List (Moderate Evidence).
Gene: galk1 has been classified as Amber List (Moderate Evidence).
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