Cholestasis

Gene: GNAS

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.

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.

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