Miscellaneous Metabolic Disorders

Gene: GALT

Green List (high evidence)

GALT (galactose-1-phosphate uridylyltransferase)
EnsemblGeneIds (GRCh38): ENSG00000213930
EnsemblGeneIds (GRCh37): ENSG00000213930
OMIM: 606999, Gene2Phenotype
GALT is in 14 panels

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Galactosemia MIM#230400

Bryony Thompson (Royal Melbourne Hospital)

Green List (high evidence)

Well-established gene-disease association (see OMIM entry). GALT deficiency is considered an inborn error of galactose metabolism.
Sources: NHS GMS
Created: 4 Feb 2021, 4:12 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Phenotypes
Galactosemia MIM#230400; Disorders of galactose metabolism

Publications

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

History Filter Activity

7 Oct 2022, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: GALT was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status 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: GALT.

4 Feb 2021, Gel status: 3

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: galt 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: galt 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: GALT was added gene: GALT was added to Miscellaneous Metabolic Disorders. Sources: NHS GMS Mode of inheritance for gene: GALT was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: GALT were set to 27604308; 2011574 Phenotypes for gene: GALT were set to Galactosemia MIM#230400; Disorders of galactose metabolism Review for gene: GALT was set to GREEN gene: GALT was marked as current diagnostic