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Inborn errors of metabolism

Gene: GALK1

Green List (high evidence)

GALK1 (galactokinase 1)
EnsemblGeneIds (GRCh38): ENSG00000108479
EnsemblGeneIds (GRCh37): ENSG00000108479
OMIM: 604313, Gene2Phenotype
GALK1 is in 9 panels

1 review

Sarah Leigh (Genomics England Curator)

Comment when marking as ready: Associated with phenotype in OMIM and as a confirmed Developmental Disorder Gene / G2P. At least 6 variants reported in at least 10 cases.
Created: 17 Jan 2017, 3:24 p.m.
Amber review assigned as this gene is Green on the V1 panel(s) named as a phenotype(s)
Created: 6 Jan 2017, 1:58 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Cataracts

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • London North GLH
  • NHS GMS
Phenotypes
  • Galactokinase deficiency with cataracts, 230200
OMIM
604313
Clinvar variants
Variants in GALK1
Penetrance
None
Panels with this gene

History Filter Activity

13 Feb 2019, Gel status: 4

Added New Source, Added New Source

Ivone Leong (Genomics England Curator)

Source NHS GMS was added to GALK1. Source London North GLH was added to GALK1.

9 Jan 2019, Gel status: 4

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Phenotypes for gene: GALK1 were changed from to Galactokinase deficiency with cataracts, 230200

8 Jan 2019, Gel status: 4

Panel promoted to version 1.0

Ellen McDonagh (Genomics England Curator)

Checked against super panel made up of the panel constituents. Ready to promote to version 1.

16 Dec 2018, Gel status: 4

Created, Added New Source, Set mode of inheritance

Ellen McDonagh (Genomics England Curator)

gene: GALK1 was added gene: GALK1 was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: GALK1 was set to BIALLELIC, autosomal or pseudoautosomal