Neonatal cholestasis
Gene: GNASEnsemblGeneIds (GRCh38): ENSG00000087460
EnsemblGeneIds (GRCh37): ENSG00000087460
OMIM: 139320, Gene2Phenotype
GNAS is in 19 panels
3 reviews
Sarah Leigh (Genomics England Curator)
Anna de Burca (Oxford University Hospitals NHS Foundation Trust)
Comment 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.
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
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert list
- Phenotypes
-
- McCune-Albright syndrome
- Cholestasis
- OMIM
- 139320
- Clinvar variants
- Variants in GNAS
- Penetrance
- None
- Publications
- Mode of Pathogenicity
- Other - please provide details in the comments
- Panels with this gene
-
- Rare syndromic craniosynostosis or isolated multisuture synostosis
- Intellectual disability
- VACTERL-like phenotypes
- Cholestasis
- Cytopenias and congenital anaemias
- Limb disorders
- Albright hereditary osteodystrophy, pseudohypoparathyroidism, pseudopseudohypoparathyroidism, acrodysostosis and osteoma cutis
- DDG2P
- Renal tubulopathies
- Pigmentary skin disorders
- Osteogenesis imperfecta
- Neurofibromatosis Type 1
- Severe early-onset obesity
- Mosaic skin disorders - deep sequencing
- Inherited non-medullary thyroid cancer
- Skeletal dysplasia
- Neonatal cholestasis
- Fetal anomalies
- Congenital hypothyroidism
History Filter Activity
Set mode of inheritance
Sarah Leigh (Genomics England Curator)Mode of inheritance for gene: GNAS was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Set mode of inheritance
Sarah Leigh (Genomics England Curator)Mode of inheritance for gene: GNAS was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Panel promoted to version 1.0
Sarah Leigh (Genomics England Curator)This panel has been subjected to extensive internal and external review.
Set mode of pathogenicity
Anna de Burca (Oxford University Hospitals NHS Foundation Trust)Mode of pathogenicity for gene: GNAS was changed to Other - please provide details in the comments
Set mode of inheritance
Anna de Burca (Oxford University Hospitals NHS Foundation Trust)Mode of inheritance for gene: GNAS was changed from Other - please specifiy in evaluation comments to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Entity classified by Genomics England curator
Anna de Burca (Oxford University Hospitals NHS Foundation Trust)Gene: gnas has been classified as Amber List (Moderate Evidence).
Entity classified by Genomics England curator
Anna de Burca (Oxford University Hospitals NHS Foundation Trust)Gene: gnas has been classified as Amber List (Moderate Evidence).
Set publications
Anna de Burca (Oxford University Hospitals NHS Foundation Trust)Publications for gene: GNAS were set to 10673080
Set mode of pathogenicity
Anna de Burca (Oxford University Hospitals NHS Foundation Trust)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
Set mode of inheritance
Anna de Burca (Oxford University Hospitals NHS Foundation Trust)Mode of inheritance for gene: GNAS was changed from Unknown to Other - please specifiy in evaluation comments
Entity classified by Genomics England curator
Louise Daugherty (Genomics England Curator)Gene: gnas has been classified as Amber List (Moderate Evidence).
Added New Source
Louise Daugherty (Genomics England Curator)GNAS was added to Neonatal cholestasis panel. Sources: Expert list
Created
Louise Daugherty (Genomics England Curator)GNAS was created by Louise Daugherty