Neonatal cholestasis
Gene: GNASComment on mode of pathogenicity: Caused by somatic mosaicism for activating pathogenic variantsCreated: 30 Jul 2018, 6:26 a.m.
Comment on mode of pathogenicity: Caused by somatic mosaicism for activating pathogenic variantsCreated: 30 Jul 2018, 6:26 a.m.
Comment on mode of inheritance: See mode of pathogenicity: caused by somatic mosaicism for activating pathogenic variantsCreated: 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 variantsCreated: 27 Jul 2018, 6:03 a.m.
Comment on mode of inheritance: Somatic mosaicism for activating pathogenic variantCreated: 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
Mode of inheritance for gene: GNAS was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mode of inheritance for gene: GNAS was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
This panel has been subjected to extensive internal and external review.
Mode of pathogenicity for gene: GNAS was changed to Other - please provide details in the comments
Mode of inheritance for gene: GNAS was changed from Other - please specifiy in evaluation comments to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Gene: gnas has been classified as Amber List (Moderate Evidence).
Gene: gnas has been classified as Amber List (Moderate Evidence).
Publications for gene: GNAS were set to 10673080
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
Mode of inheritance for gene: GNAS was changed from Unknown to Other - please specifiy in evaluation comments
Gene: gnas has been classified as Amber List (Moderate Evidence).
GNAS was added to Neonatal cholestasis panel. Sources: Expert list
GNAS was created by Louise Daugherty