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  3. GALT
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Dystonia - complex

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

1 review

Bryony Thompson (Royal Melbourne Hospital)

Green List (high evidence)

Dystonia can be a feature of the phenotype (PMID: 30718057).
Sources: Expert list
Created: 30 Dec 2019, 10:29 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Galactosemia, MIM#230400

Publications

Created: 30 Dec 2019, 10:29 a.m.

Panel version: 0.5

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: GALT.

30 Dec 2019, Gel status: 3

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

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

30 Dec 2019, Gel status: 3

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

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

30 Dec 2019, 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 Dystonia - complex_RMH. Sources: Expert list Mode of inheritance for gene: GALT was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: GALT were set to 30718057 Phenotypes for gene: GALT were set to Galactosemia, MIM#230400 Review for gene: GALT was set to GREEN