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Mackenzie's Mission_Reproductive Carrier Screening

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

Sarah Righetti (University of New South Wales)

Green List (high evidence)

Not included on NBS in Victoria, included in all three states for consistency.

Treatable but can still be signficant speech problems and long-term neurological issues - treatment only resolves liver phenotype.
Created: 23 Oct 2020, 4:48 a.m. | Last Modified: 23 Oct 2020, 4:49 a.m.
Panel Version: 0.32

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Galactosaemia, MIM #230400

Created: 23 Oct 2020, 4:48 a.m.
Last Modified: 23 Oct 2020, 4:49 a.m.
Panel version: 0.32

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Comment when marking as ready: Only screened in Victoria as galactosaemia is not part of newborn screening.
Created: 26 Apr 2020, 8:15 a.m. | Last Modified: 26 Apr 2020, 8:15 a.m.
Panel Version: 0.3
Created: 26 Apr 2020, 8:15 a.m.
Last Modified: 26 Apr 2020, 8:15 a.m.
Panel version: 0.3

History Filter Activity

29 Oct 2020, Gel status: 3

Entity classified by Genomics England curator

Seb Lunke (Victorian Clinical Genetics Services)

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

26 Apr 2020, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: galt has been classified as Amber List (Moderate Evidence).

26 Apr 2020, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: galt has been classified as Amber List (Moderate Evidence).

19 Apr 2020, Gel status: 3

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: GALT was added gene: GALT was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: GALT was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: GALT were set to Galactosemia, 230400 (3)