Neonatal cholestasis
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
1 review
Sarah Leigh (Genomics England Curator)
Comment when marking as ready: Associated with relevant phenotype in OMIM and as confirmed Gen2Phen gene. At least 14 variants reported.Created: 14 Aug 2018, 12:29 p.m.
Comment on phenotypes: Phenotype appears to include features relevant to the neonatal cholestasis panelCreated: 14 Aug 2018, 12:28 p.m.
Comment on phenotypes: Galactosemia 230400Created: 14 Aug 2018, 12:02 p.m.
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Victorian Clinical Genetics Services
- Phenotypes
-
- Galactosemia 230400
- OMIM
- 606999
- Clinvar variants
- Variants in GALT
- Penetrance
- None
- Panels with this gene
-
- Undiagnosed metabolic disorders
- Bilateral congenital or childhood onset cataracts
- Childhood onset dystonia, chorea or related movement disorder
- Likely inborn error of metabolism
- Cholestasis
- DDG2P
- Primary ovarian insufficiency
- Structural eye disease
- Intellectual disability
- Neonatal cholestasis
- Fetal anomalies
History Filter Activity
3 Sep 2018, Gel status: 3
Panel promoted to version 1.0
Sarah Leigh (Genomics England Curator)This panel has been subjected to extensive internal and external review.
14 Aug 2018, Gel status: 3
Entity classified by Genomics England curator
Sarah Leigh (Genomics England Curator)Gene: galt has been classified as Green List (High Evidence).
14 Aug 2018, Gel status: 3
Set Phenotypes
Sarah Leigh (Genomics England Curator)Phenotypes for gene: GALT were set to Galactosemia 230400
14 Aug 2018, Gel status: 3
Entity classified by Genomics England curator
Sarah Leigh (Genomics England Curator)Gene: galt has been classified as Green List (High Evidence).
14 Aug 2018, Gel status: 1
Set Phenotypes
Sarah Leigh (Genomics England Curator)Phenotypes for gene: GALT were set to Galactosemia 230400
14 Aug 2018, Gel status: 1
Set mode of inheritance
Sarah Leigh (Genomics England Curator)Mode of inheritance for gene: GALT was changed from to BIALLELIC, autosomal or pseudoautosomal
21 Jun 2018, Gel status: 1
Added New Source
Ellen McDonagh (Genomics England Curator)GALT was added to Cholestasis panel. Sources: Victorian Clinical Genetics Services
21 Jun 2018, Gel status: 1
Created
Ellen McDonagh (Genomics England Curator)GALT was created by Ellen McDonagh