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Intellectual disability syndromic and non-syndromic

Gene: GALE

Green List (high evidence)

GALE (UDP-galactose-4-epimerase)
EnsemblGeneIds (GRCh38): ENSG00000117308
EnsemblGeneIds (GRCh37): ENSG00000117308
OMIM: 606953, Gene2Phenotype
GALE is in 7 panels

1 review

Bryony Thompson (Royal Melbourne Hospital)

Green List (high evidence)

Developmental delay is a feature of generalised galactose epimerase deficiency that may be seen after long-term exposure to galactose/lactose.
Created: 1 Oct 2024, 10:41 a.m. | Last Modified: 1 Oct 2024, 10:41 a.m.
Panel Version: 0.6289

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
galactose epimerase deficiency MONDO:0009257

Publications

Variants in this GENE are reported as part of current diagnostic practice

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Genetic Health Queensland
Phenotypes
  • galactose epimerase deficiency MONDO:0009257
Tags
treatable
OMIM
606953
Clinvar variants
Variants in GALE
Penetrance
None
Publications
Panels with this gene

History Filter Activity

1 Oct 2024, Gel status: 3

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: gale has been classified as Green List (High Evidence).

1 Oct 2024, Gel status: 3

Set Phenotypes

Bryony Thompson (Royal Melbourne Hospital)

Phenotypes for gene: GALE were changed from to galactose epimerase deficiency MONDO:0009257

1 Oct 2024, Gel status: 3

Set publications

Bryony Thompson (Royal Melbourne Hospital)

Publications for gene: GALE were set to

1 Oct 2024, Gel status: 3

Set mode of inheritance

Bryony Thompson (Royal Melbourne Hospital)

Mode of inheritance for gene: GALE was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal

5 Oct 2022, Gel status: 3

Added Tag

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Tag treatable tag was added to gene: GALE.

22 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: GALE was added gene: GALE was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: GALE was set to Unknown