Neonatal cholestasisGene: GALK1
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
Galactokinase deficiency with cataracts, OMIM:230200; MONDO:0009255
Gene: galk1 has been classified as Green List (High Evidence).
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