Primary ovarian insufficiency
Gene: GALT
GALT (galactose-1-phosphate uridylyltransferase)
EnsemblGeneIds (GRCh38): ENSG00000213930
EnsemblGeneIds (GRCh37): ENSG00000213930
OMIM: 606999, Gene2Phenotype
GALT is in 11 panels
EnsemblGeneIds (GRCh38): ENSG00000213930
EnsemblGeneIds (GRCh37): ENSG00000213930
OMIM: 606999, Gene2Phenotype
GALT is in 11 panels
2 reviews
Louise IZATT (GSTT Clinical Genetics Service)
Clear evidence of POICreated: 9 Jun 2017, 3:28 p.m.
Publications
Arianna Tucci (Genomics England Curator)
Comment when marking as ready: MAarked as green as POI can be a complication of galactosemiaCreated: 22 May 2017, 9:34 a.m.
Ovarian insufficiency is a common long-term complication females with galactosemiaCreated: 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
-
- Primary ovarian insufficiency
- Structural eye disease
- Neonatal cholestasis
- Fetal anomalies
- Undiagnosed metabolic disorders
- Bilateral congenital or childhood onset cataracts
- Intellectual disability
- Childhood onset dystonia, chorea or related movement disorder
- Likely inborn error of metabolism
- Cholestasis
- DDG2P
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