Pigmentary skin disorders
Gene: GNASEnsemblGeneIds (GRCh38): ENSG00000087460
EnsemblGeneIds (GRCh37): ENSG00000087460
OMIM: 139320, Gene2Phenotype
GNAS is in 19 panels
2 reviews
Tom Cullup (Great Ormond Street Hospital)
Removed - test not fit for purpose as only v.low level mosaicism. To be fulfilled by mosaic panel.Created: 12 Dec 2019, 12:23 p.m. | Last Modified: 12 Dec 2019, 12:23 p.m.
Panel Version: 0.25
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
McCune-Albright syndrome
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, 11:31 a.m.
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
- Sources
-
- Expert Review Red
- London North GLH
- NHS GMS
- Phenotypes
-
- McCune-Albright syndrome
- Tags
- OMIM
- 139320
- Clinvar variants
- Variants in GNAS
- Penetrance
- None
- Panels with this gene
-
- VACTERL-like phenotypes
- Cholestasis
- Cytopenias and congenital anaemias
- Albright hereditary osteodystrophy, pseudohypoparathyroidism, pseudopseudohypoparathyroidism, acrodysostosis and osteoma cutis
- Limb disorders
- DDG2P
- Renal tubulopathies
- Intellectual disability
- Pigmentary skin disorders
- Osteogenesis imperfecta
- Neurofibromatosis Type 1
- Severe early-onset obesity
- Mosaic skin disorders - deep sequencing
- Inherited non-medullary thyroid cancer
- Neonatal cholestasis
- Fetal anomalies
- Congenital hypothyroidism
- Skeletal dysplasia
- Rare syndromic craniosynostosis or isolated multisuture synostosis
History Filter Activity
Added Tag
Sarah Leigh (Genomics England Curator)Tag mosaicism tag was added to gene: GNAS.
Added Tag
Sarah Leigh (Genomics England Curator)Tag somatic tag was added to gene: GNAS.
Added New Source, Set Phenotypes, Status Update
Catherine Snow (Genomics England)Source Expert Review Red was added to GNAS. Added phenotypes McCune-Albright syndrome for gene: GNAS Rating Changed from Green List (high evidence) to Red List (low evidence)
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 Pigmentary skin disorders. 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