Cholestasis

Gene: GALT

Amber List (moderate evidence)

GALT (galactose-1-phosphate uridylyltransferase)
EnsemblGeneIds (GRCh38): ENSG00000213930
EnsemblGeneIds (GRCh37): ENSG00000213930
OMIM: 606999, Gene2Phenotype
GALT is in 12 panels

2 reviews

Ivone Leong (Genomics England Curator)

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)

Green List (high evidence)

Liver disease, including cholestasis is a prominent part of the presenting phenotype of this relatively common, treatable metabolic disorder.
Sources: Expert list
Created: 8 Aug 2020, 8:36 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Galactosemia, MIM# 230400

Publications

Details

History Filter Activity

16 Nov 2020, Gel status: 2

Entity classified by Genomics England curator

Ivone Leong (Genomics England Curator)

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

16 Nov 2020, Gel status: 2

Entity classified by Genomics England curator

Ivone Leong (Genomics England Curator)

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

16 Nov 2020, Gel status: 0

Added Tag

Ivone Leong (Genomics England Curator)

Tag for-review tag was added to gene: GALT.

16 Nov 2020, Gel status: 0

Set Phenotypes

Ivone Leong (Genomics England Curator)

Phenotypes for gene: GALT were changed from Galactosemia, MIM# 230400 to Galactosemia, OMIM:230400; MONDO:0018116

8 Aug 2020, Gel status: 0

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