Primary ovarian insufficiency

Gene: GALT

Green List (high evidence)

GALT (galactose-1-phosphate uridylyltransferase)
EnsemblGeneIds (GRCh38): ENSG00000213930
EnsemblGeneIds (GRCh37): ENSG00000213930
OMIM: 606999, Gene2Phenotype
GALT is in 10 panels

2 reviews

Louise IZATT (GSTT Clinical Genetics Service)

Green List (high evidence)

Clear evidence of POI
Created: 9 Jun 2017, 3:28 p.m.

Publications

Arianna Tucci (Genomics England Curator)

Green List (high evidence)

Comment when marking as ready: MAarked as green as POI can be a complication of galactosemia
Created: 22 May 2017, 9:34 a.m.
Ovarian insufficiency is a common long-term complication females with galactosemia
Created: 11 May 2017, 11:38 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Galactosemia, 230400

Publications

  • 90818

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Galactosemia, 230400
OMIM
606999
Clinvar variants
Variants in GALT
Penetrance
Complete
Publications
  • 90818
Panels with this gene

History Filter Activity

31 May 2017, Gel status: 4

panel promoted to version 1

Arianna Tucci (Genomics England Curator)

Promoting to Version 1 on 31-05-2017, after internal curation and review.

22 May 2017, Gel status: 4

Gene classified by Genomics England curator

Arianna Tucci (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

22 May 2017, Gel status: 4

Gene classified by Genomics England curator

Arianna Tucci (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

11 May 2017, Gel status: 0

Added New Source

Arianna Tucci (Genomics England Curator)

GALT was added to Early onset familial premature ovarian insufficiencypanel. Sources: Literature

11 May 2017, Gel status: 0

Created

Arianna Tucci (Genomics England Curator)

GALT was created by arianna