Neonatal cholestasis

Gene: GNAS

Amber List (moderate evidence)

GNAS (GNAS complex locus)
EnsemblGeneIds (GRCh38): ENSG00000087460
EnsemblGeneIds (GRCh37): ENSG00000087460
OMIM: 139320, Gene2Phenotype
GNAS is in 19 panels

2 reviews

Anna de Burca (Genomics England Curator)

Comment on mode of pathogenicity: Caused by somatic mosaicism for activating pathogenic variants
Created: 30 Jul 2018, 6:26 a.m.
Comment on mode of pathogenicity: Caused by somatic mosaicism for activating pathogenic variants
Created: 30 Jul 2018, 6:26 a.m.
Comment on mode of inheritance: See mode of pathogenicity: caused by somatic mosaicism for activating pathogenic variants
Created: 30 Jul 2018, 6:24 a.m.
Comment on list classification: Single case report of cholestasis in two infants subsequently diagnosed with McCune-Albright syndrome. Insufficient evidence.
Created: 27 Jul 2018, 6:09 a.m.
Comment on publications: Case report of two unrelated infants presenting with cholestasis and later diagnosed with McCune-Albright syndrome. Cholangiography was normal. Although cholestasis was reported in the original cases described by McCune and Albright, this is not a commonly reported finding in McCune-Albright syndrome, and this publication does not provide sufficient evidence of a causal link.
Created: 27 Jul 2018, 6:08 a.m.
Comment on mode of pathogenicity: Caused by somatic mosaicism for activating pathogenic variants
Created: 27 Jul 2018, 6:03 a.m.
Comment on mode of inheritance: Somatic mosaicism for activating pathogenic variant
Created: 27 Jul 2018, 6:03 a.m.

Louise Daugherty (Genomics England Curator)

Gene added from King's College Hospital NHS Foundation Trust diagnostic cholestasis gene panel. This gene has been rated as AMBER and needs further curational review to assess pertinence prior to v1.
Created: 25 Jul 2018, 4:20 p.m.

Mode of inheritance
Unknown

Phenotypes
McCune-Albright syndrome; Cholestasis

History Filter Activity

3 Sep 2018, Gel status: 2

Panel promoted to version 1.0

Sarah Leigh (Genomics England Curator)

This panel has been subjected to extensive internal and external review.

30 Jul 2018, Gel status: 2

Set mode of pathogenicity

Anna de Burca (Genomics England Curator)

Mode of pathogenicity for gene: GNAS was changed to Other - please provide details in the comments

30 Jul 2018, Gel status: 2

Set mode of inheritance

Anna de Burca (Genomics England Curator)

Mode of inheritance for gene: GNAS was changed from Other - please specifiy in evaluation comments to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

27 Jul 2018, Gel status: 2

Entity classified by Genomics England curator

Anna de Burca (Genomics England Curator)

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

27 Jul 2018, Gel status: 2

Entity classified by Genomics England curator

Anna de Burca (Genomics England Curator)

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

27 Jul 2018, Gel status: 2

Set publications

Anna de Burca (Genomics England Curator)

Publications for gene: GNAS were set to 10673080

27 Jul 2018, Gel status: 2

Set mode of pathogenicity

Anna de Burca (Genomics England Curator)

Mode of pathogenicity for gene: GNAS was changed to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments

27 Jul 2018, Gel status: 2

Set mode of inheritance

Anna de Burca (Genomics England Curator)

Mode of inheritance for gene: GNAS was changed from Unknown to Other - please specifiy in evaluation comments

25 Jul 2018, Gel status: 2

Entity classified by Genomics England curator

Louise Daugherty (Genomics England Curator)

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

25 Jul 2018, Gel status: 1

Added New Source

Louise Daugherty (Genomics England Curator)

GNAS was added to Neonatal cholestasis panel. Sources: Expert list

25 Jul 2018, Gel status: 1

Created

Louise Daugherty (Genomics England Curator)

GNAS was created by Louise Daugherty