Inherited non-medullary thyroid cancer
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
1 review
Sarah Leigh (Genomics England Curator)
Comment when marking as ready: Not associated with phenotype in OMIM or G2P. Two variants reported (one of which is probably somatic)Created: 1 Aug 2017, 7:59 a.m.
One potentially pathogenic indel variant reported in two members of one family, plus over expression reported in thyroid tumours containing variant p.R201LCreated: 1 Aug 2017, 7:58 a.m.
This gene is imprintedCreated: 26 Jun 2017, 2:41 p.m.
Mode of inheritance
Unknown
Phenotypes
Inherited non-medullary thyroid cancer
Publications
Details
- Mode of Inheritance
- Unknown
- Sources
-
- Expert Review Red
- Literature
- Phenotypes
-
- Inherited non-medullary thyroid cancer
- OMIM
- 139320
- Clinvar variants
- Variants in GNAS
- Penetrance
- Complete
- Publications
- 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
7 Aug 2017, Gel status: 1
panel promoted to version 1
Sarah Leigh (Genomics England Curator)All genes have been reviewed and the reviews evaluated. 07.08.2017
1 Aug 2017, Gel status: 1
Gene classified by Genomics England curator
Sarah Leigh (Genomics England Curator)This gene has been classified as Red List (Low Evidence).
1 Aug 2017, Gel status: 0
Set publications
Sarah Leigh (Genomics England Curator)Publications for GNAS were set to 26530882; 7751320
26 Jun 2017, Gel status: 0
Created
Sarah Leigh (Genomics England Curator)GNAS was created by sleigh
26 Jun 2017, Gel status: 0
Added New Source
Sarah Leigh (Genomics England Curator)GNAS was added to Inherited non-medullary thyroid cancerpanel. Sources: Literature