This Panel is marked as Retired
Multiple Tumours
Gene: GNAS
GNAS (GNAS complex locus)
EnsemblGeneIds (GRCh38): ENSG00000087460
EnsemblGeneIds (GRCh37): ENSG00000087460
OMIM: 139320, Gene2Phenotype
GNAS is in 19 panels
EnsemblGeneIds (GRCh38): ENSG00000087460
EnsemblGeneIds (GRCh37): ENSG00000087460
OMIM: 139320, Gene2Phenotype
GNAS is in 19 panels
Details
- Mode of Inheritance
- Unknown
- Sources
-
- Expert Review Amber
- Other
- Phenotypes
-
- McCune-Albright syndrome, 174800
- Pseudohypoparathyroidism Ia
- OMIM
- 139320
- Clinvar variants
- Variants in GNAS
- Penetrance
- Complete
- Publications
- Panels with this gene
-
- VACTERL-like phenotypes
- Intellectual disability
- Pigmentary skin disorders
- Cytopenias and congenital anaemias
- Renal tubulopathies
- Albright hereditary osteodystrophy, pseudohypoparathyroidism, pseudopseudohypoparathyroidism, acrodysostosis and osteoma cutis
- Rare syndromic craniosynostosis or isolated multisuture synostosis
- Mosaic skin disorders - deep sequencing
- Congenital hypothyroidism
- Neurofibromatosis Type 1
- Fetal anomalies
- Severe early-onset obesity
- Skeletal dysplasia
- Osteogenesis imperfecta
- Limb disorders
- DDG2P
- Inherited non-medullary thyroid cancer
- Neonatal cholestasis
- Cholestasis
History Filter Activity
3 May 2017, Gel status: 2
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Amber List (Moderate Evidence).
3 May 2017, Gel status: 0
Created
Ellen McDonagh (Genomics England Curator)GNAS was created by ellenmcdonagh
3 May 2017, Gel status: 0
Added New Source
Ellen McDonagh (Genomics England Curator)GNAS was added to Multiple Tumourspanel. Sources: Other