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Newborns main panel

Gene: GALE

Green List (high evidence)
GALE (UDP-galactose-4-epimerase)
EnsemblGeneIds (GRCh38): ENSG00000117308
EnsemblGeneIds (GRCh37): ENSG00000117308
OMIM: 606953, Gene2Phenotype
GALE is in 9 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
Galactose epimerase deficiency: lessons from the GalNet registry - PubMed (nih.gov)
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

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Galactose epimerase deficiency
OMIM
606953
Clinvar variants
Variants in GALE
Penetrance
None
Panels with this gene

History Filter Activity

31 Dec 2025, Gel status: 3

Added New Source, Status Update

Arina Puzriakova (Genomics England Curator)

Source Expert Review Green was added to GALE. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)

14 Sep 2023, Gel status: 2

Added New Source, Set Phenotypes, Status Update

Mafalda Gomes (Genomics England Curator)

Source Expert Review Amber was added to GALE. Added phenotypes Galactose epimerase deficiency for gene: GALE Rating Changed from Green List (high evidence) to Amber List (moderate evidence)

5 Jul 2023, Gel status: 3

Added New Source, Set Phenotypes, Status Update

Mafalda Gomes (Genomics England Curator)

Source Expert Review Green was added to GALE. Added phenotypes Galactose epimerase deficiency for gene: GALE Rating Changed from Amber List (moderate evidence) to Green List (high evidence)

31 May 2023, Gel status: 2

Added New Source, Set Phenotypes, Status Update

Mafalda Gomes (Genomics England Curator)

Source Expert Review Amber was added to GALE. Added phenotypes Galactose epimerase deficiency for gene: GALE Rating Changed from Green List (high evidence) to Amber List (moderate evidence)

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 GALE. Added phenotypes Galactose epimerase deficiency for gene: GALE Rating Changed from No List (delete) to Green List (high evidence)

9 Mar 2023, Gel status: 0

Set Phenotypes

Mafalda Gomes (Genomics England Curator)

Added phenotypes Galactose epimerase deficiency for gene: GALE

9 Mar 2023, Gel status: 0

Created, Added New Source, Set mode of inheritance

Mafalda Gomes (Genomics England Curator)

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