Miscellaneous Metabolic Disorders
Gene: GALEEnsemblGeneIds (GRCh38): ENSG00000117308
EnsemblGeneIds (GRCh37): ENSG00000117308
OMIM: 606953, Gene2Phenotype
GALE is in 7 panels
1 review
Bryony Thompson (Royal Melbourne Hospital)
Well-established gene-disease association (see OMIM entry). GALE deficiency is an inborn error of galactose metabolism.
Sources: NHS GMSCreated: 4 Feb 2021, 3:56 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Galactose epimerase deficiency MIM#230350; Disorders of galactose metabolism
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
- NHS GMS
- Phenotypes
-
- Galactose epimerase deficiency MIM#230350
- Disorders of galactose metabolism
- Tags
- OMIM
- 606953
- Clinvar variants
- Variants in GALE
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
Added Tag
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Tag treatable tag was added to gene: GALE.
Entity classified by Genomics England curator
Bryony Thompson (Royal Melbourne Hospital)Gene: gale has been classified as Green List (High Evidence).
Entity classified by Genomics England curator
Bryony Thompson (Royal Melbourne Hospital)Gene: gale has been classified as Green List (High Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Bryony Thompson (Royal Melbourne Hospital)gene: GALE was added gene: GALE was added to Miscellaneous Metabolic Disorders. Sources: NHS GMS Mode of inheritance for gene: GALE was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: GALE were set to 27604308; 9700591 Phenotypes for gene: GALE were set to Galactose epimerase deficiency MIM#230350; Disorders of galactose metabolism Review for gene: GALE was set to GREEN gene: GALE was marked as current diagnostic