Cholestasis

Gene: GNAS

Amber List (moderate evidence)

GNAS (GNAS complex locus)
EnsemblGeneIds (GRCh38): ENSG00000087460
EnsemblGeneIds (GRCh37): ENSG00000087460
OMIM: 139320, Gene2Phenotype
GNAS is in 21 panels

3 reviews

Ivone Leong (Genomics England Curator)

Green List (high evidence)

Comment on list classification: As discussed in the GMS Gastrohepatology Specialist Test Group webex call 14th Jan 2019: The Specialist Test Group agreed that there is not enough evidence for this gene to be rated green. Therefore, demoted from green to amber.
Created: 31 Jan 2019, 9:57 a.m.
Initial gene list and info collated by Miranda Durkie Sheffield Diagnostic Genetics Service December 2018 on behalf of the GMS Gastrohepatology specialist test group. Gene Symbol submitted: GNAS; Suggested intial gene rating: Green; Evidence for inclusion: none given; Evidence for exclusion: none given; Technical notes (e.g. non-coding/CNV mutations requiring coverage?): none given
Created: 7 Jan 2019, 4:42 p.m.

Anna de Burca (Genomics England Curator)

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 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 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

31 Jan 2019, Gel status: 2

Entity classified by Genomics England curator

Ivone Leong (Genomics England Curator)

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

31 Jan 2019, Gel status: 2

Entity classified by Genomics England curator

Ivone Leong (Genomics England Curator)

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

14 Jan 2019, Gel status: 4

Added New Source, Set mode of inheritance, Set mode of pathogenicity, Set Phenotypes, Set publications

Ivone Leong (Genomics England Curator)

Source Other was added to GNAS. Mode of inheritance for gene GNAS was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Mode of pathogenicity for gene GNAS was changed from to Other - please provide details in the comments Added phenotypes Cholestasis; McCune-Albright syndrome for gene: GNAS Publications for gene GNAS were changed from to 10673080

7 Jan 2019, Gel status: 3

Added New Source, Status Update

Ivone Leong (Genomics England Curator)

Source Expert Review Green was added to GNAS. Rating Changed from Red List (low evidence) to Green List (high evidence)

7 Jan 2019, Gel status: 1

Created, Added New Source, Set mode of inheritance

Ivone Leong (Genomics England Curator)

gene: GNAS was added gene: GNAS was added to Cholestasis. Sources: NHS GMS Mode of inheritance for gene: GNAS was set to