Mosaic skin disorders - deep sequencing
Gene: GNASEnsemblGeneIds (GRCh38): ENSG00000087460
EnsemblGeneIds (GRCh37): ENSG00000087460
OMIM: 139320, Gene2Phenotype
GNAS is in 19 panels
2 reviews
Tom Cullup (Great Ormond Street Hospital)
R201C, R201H, R201S, R201G, Q227R, Q227HCreated: 5 Dec 2019, 3:40 p.m. | Last Modified: 5 Dec 2019, 3:40 p.m.
Panel Version: 0.16
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
McCune-Albright syndrome (174800)
Publications
Mode of pathogenicity
Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype -please provide details in the comments
Rebecca Foulger (Genomics England curator)
This gene was part of an initial gene list collated by Thomas Cullup, GOSH and Veronica Kinsler, UCL, 25.Jan.2019 on behalf of the GMS Skin Specialist Test Group. Gene Symbol submitted: GNAS; Suggested initial gene rating: Green; Evidence for inclusion: none provided; Evidence for exclusion: none provided; Technical notes (e.g. non-coding/CNV mutations requiring coverage?): none provided.Created: 31 Jan 2019, 2:50 p.m.
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
- Sources
-
- London North GLH
- NHS GMS
- Expert Review Green
- Phenotypes
-
- McCune-Albright syndrome, somatic, mosaic, OMIM:174800
- panostotic fibrous dysplasia, MONDO:0043168
- OMIM
- 139320
- Clinvar variants
- Variants in GNAS
- Penetrance
- None
- Publications
- 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
- Fetal anomalies
- 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
- Congenital hypothyroidism
History Filter Activity
Set Phenotypes
Sarah Leigh (Genomics England Curator)Phenotypes for gene: GNAS were changed from McCune-Albright syndrome to McCune-Albright syndrome, somatic, mosaic, OMIM:174800; panostotic fibrous dysplasia, MONDO:0043168
Set publications
Catherine Snow (Genomics England)Publications for gene GNAS were changed from to 12970318
Added New Source
Rebecca Foulger (Genomics England curator)Source London North GLH was added to GNAS.
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Rebecca Foulger (Genomics England curator)gene: GNAS was added gene: GNAS was added to Mosaic skin disorders - deep sequencing. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: GNAS was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: GNAS were set to McCune-Albright syndrome