Cholestasis
Gene: GALTEnsemblGeneIds (GRCh38): ENSG00000213930
EnsemblGeneIds (GRCh37): ENSG00000213930
OMIM: 606999, Gene2Phenotype
GALT is in 11 panels
2 reviews
Ivone Leong (Genomics England Curator)
The rating of this gene has been updated following NHS Genomic Medicine Service approval.Created: 3 Mar 2022, 4:18 p.m. | Last Modified: 3 Mar 2022, 4:18 p.m.
Panel Version: 1.105
Comment on list classification: New gene added by Zornitza Stark. This gene is Green on the Neonatal cholestasis panel (v1.7) with the following 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.
Sarah Leigh (Genomics England Curator), 14 Aug 2018
Comment on phenotypes: Phenotype appears to include features relevant to the neonatal cholestasis panel
Sarah Leigh (Genomics England Curator), 14 Aug 2018"
Therefore, this gene has been given an Amber rating and will be promoted to Green status at the next major review.Created: 16 Nov 2020, 8:54 a.m. | Last Modified: 16 Nov 2020, 8:54 a.m.
Panel Version: 1.65
Comment on list classification: New gene added by Zornitza Stark. This gene is Green on the Neonatal cholestasis panel (v1.7) with the following 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.
Sarah Leigh (Genomics England Curator), 14 Aug 2018
Comment on phenotypes: Phenotype appears to include features relevant to the neonatal cholestasis panel
Sarah Leigh (Genomics England Curator), 14 Aug 2018"
Therefore, this gene has been given an Amber rating and will be promoted to Green status at the next major review.Created: 16 Nov 2020, 8:54 a.m. | Last Modified: 16 Nov 2020, 8:54 a.m.
Panel Version: 1.64
Zornitza Stark (Australian Genomics)
Liver disease, including cholestasis is a prominent part of the presenting phenotype of this relatively common, treatable metabolic disorder.
Sources: Expert listCreated: 8 Aug 2020, 8:36 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Galactosemia, MIM# 230400
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Phenotypes
-
- Galactosemia, OMIM:230400
- MONDO:0018116
- OMIM
- 606999
- Clinvar variants
- Variants in GALT
- Penetrance
- None
- Publications
- 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
- Intellectual disability
- Structural eye disease
- Neonatal cholestasis
- Fetal anomalies
History Filter Activity
Removed Tag
Ivone Leong (Genomics England Curator)Tag for-review was removed from gene: GALT.
Added New Source, Status Update
Ivone Leong (Genomics England Curator)Source Expert Review Green was added to GALT. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Entity classified by Genomics England curator
Ivone Leong (Genomics England Curator)Gene: galt has been classified as Amber List (Moderate Evidence).
Entity classified by Genomics England curator
Ivone Leong (Genomics England Curator)Gene: galt has been classified as Amber List (Moderate Evidence).
Added Tag
Ivone Leong (Genomics England Curator)Tag for-review tag was added to gene: GALT.
Set Phenotypes
Ivone Leong (Genomics England Curator)Phenotypes for gene: GALT were changed from Galactosemia, MIM# 230400 to Galactosemia, OMIM:230400; MONDO:0018116
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Zornitza Stark (Australian Genomics)gene: GALT was added gene: GALT was added to Cholestasis. Sources: Expert list Mode of inheritance for gene: GALT was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: GALT were set to 30693370 Phenotypes for gene: GALT were set to Galactosemia, MIM# 230400 Review for gene: GALT was set to GREEN