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Newborns main panel

Gene: GALK1

Green List (high evidence)
GALK1 (galactokinase 1)
EnsemblGeneIds (GRCh38): ENSG00000108479
EnsemblGeneIds (GRCh37): ENSG00000108479
OMIM: 604313, Gene2Phenotype
GALK1 is in 10 panels

1 review

Mafalda Gomes (Genomics England Curator)

The mechanism of pathogenicity is loss-of-function (LOF).
Created: 1 Jun 2023, 2:39 p.m. | Last Modified: 1 Jun 2023, 2:39 p.m.
Panel Version: 0.137
GALK1 curation results (clinicalgenome.org)
Created: 1 Jun 2023, 12:22 p.m. | Last Modified: 1 Jun 2023, 12:22 p.m.
Panel Version: 0.134
Created: 1 Jun 2023, 12:22 p.m.
Last Modified: 1 Jun 2023, 12:22 p.m.
Panel version: 0.137

History Filter Activity

14 Sep 2023, Gel status: 3

Set Phenotypes

Mafalda Gomes (Genomics England Curator)

Added phenotypes Galactokinase deficiency with cataracts for gene: GALK1

5 Jul 2023, Gel status: 3

Set Phenotypes

Mafalda Gomes (Genomics England Curator)

Added phenotypes Galactokinase deficiency with cataracts for gene: GALK1

31 May 2023, Gel status: 3

Set Phenotypes

Mafalda Gomes (Genomics England Curator)

Added phenotypes Galactokinase deficiency with cataracts for gene: GALK1

5 May 2023, Gel status: 3

Added New Source, Set Phenotypes, Status Update

Mafalda Gomes (Genomics England Curator)

Source Expert Review Green was added to GALK1. Added phenotypes Galactokinase deficiency with cataracts for gene: GALK1 Rating Changed from No List (delete) to Green List (high evidence)

9 Mar 2023, Gel status: 0

Created, Added New Source, Set mode of inheritance

Mafalda Gomes (Genomics England Curator)

gene: GALK1 was added gene: GALK1 was added to Newborns main panel. Sources: Expert Review Removed Mode of inheritance for gene: GALK1 was set to BIALLELIC, autosomal or pseudoautosomal