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  3. GALK1
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Miscellaneous Metabolic Disorders

Gene: GALK1

Green List (high evidence)
GALK1 (galactokinase 1)
EnsemblGeneIds (GRCh38): ENSG00000108479
EnsemblGeneIds (GRCh37): ENSG00000108479
OMIM: 604313, Gene2Phenotype
GALK1 is in 7 panels

1 review

Bryony Thompson (Royal Melbourne Hospital)

Green List (high evidence)

Well-established gene-disease association (see OMIM entry). Galactokinase deficiency is classified as a metabolic disorder by the NIH GARD (https://rarediseases.info.nih.gov/diseases/diseases-by-category/14/metabolic-disorders) and is an inborn error of galactose metabolism.
Sources: NHS GMS
Created: 4 Feb 2021, 4 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Galactokinase deficiency with cataracts MIM#230200; Disorders of galactose metabolism

Publications

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

Created: 4 Feb 2021, 4 a.m.

Panel version: 0.146

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Galactokinase deficiency with cataracts MIM#230200
  • Disorders of galactose metabolism
Tags
treatable
OMIM
604313
Clinvar variants
Variants in GALK1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

5 Oct 2022, Gel status: 3

Added Tag

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Tag treatable tag was added to gene: GALK1.

4 Feb 2021, Gel status: 3

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: galk1 has been classified as Green List (High Evidence).

4 Feb 2021, Gel status: 3

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: galk1 has been classified as Green List (High Evidence).

4 Feb 2021, Gel status: 1

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Bryony Thompson (Royal Melbourne Hospital)

gene: GALK1 was added gene: GALK1 was added to Miscellaneous Metabolic Disorders. Sources: NHS GMS Mode of inheritance for gene: GALK1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: GALK1 were set to 27604308; 5129682 Phenotypes for gene: GALK1 were set to Galactokinase deficiency with cataracts MIM#230200; Disorders of galactose metabolism Review for gene: GALK1 was set to GREEN gene: GALK1 was marked as current diagnostic