Cytopenias and congenital anaemias
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
2 reviews
Arianna Tucci (Genomics England Curator)
Mode of inheritance
Unknown
Phenotypes
Acute myeloid leukaemia (AML)
BRIDGE consortium (NIHRBR-RD)
Mode of inheritance
Unknown
Phenotypes
Acute myeloid leukaemia (AML)
Variants in this GENE are reported as part of current diagnostic practice
Details
- Mode of Inheritance
- Unknown
- Sources
-
- Expert Review Red
- BRIDGE consortium (NIHRBR-RD)
- Phenotypes
-
- Acute myeloid leukaemia (AML)
- Tags
- OMIM
- 139320
- Clinvar variants
- Variants in GNAS
- Penetrance
- Complete
- Panels with this gene
-
- VACTERL-like phenotypes
- Skeletal dysplasia
- Limb disorders
- Severe early-onset obesity
- Intellectual disability
- DDG2P
- Cytopenias and congenital anaemias
- Albright hereditary osteodystrophy, pseudohypoparathyroidism, pseudopseudohypoparathyroidism, acrodysostosis and osteoma cutis
- Mosaic skin disorders - deep sequencing
- Fetal anomalies
- Renal tubulopathies
- Pigmentary skin disorders
- Neurofibromatosis Type 1
- Rare syndromic craniosynostosis or isolated multisuture synostosis
- Cholestasis
- Osteogenesis imperfecta
- Congenital hypothyroidism
- Inherited non-medullary thyroid cancer
- Neonatal cholestasis
History Filter Activity
11 Mar 2017, Gel status: 1
panel promoted to version 1
Arianna Tucci (Genomics England Curator)Promoted to V1 on 11 March 2017, after internal review and discussion with the clinical team.
9 Mar 2017, Gel status: 1
Added New Source
Sarah Leigh (Genomics England Curator)GNAS was added to Cytopaenias and congenital anaemiaspanel. Source: Expert Review Red
17 Feb 2017, Gel status: 0
Added New Source
Louise Daugherty (Genomics England Curator)GNAS was added to Cytopaenias and congenital anaemiaspanel. Sources: BRIDGE consortium (NIHRBR-RD)
17 Feb 2017, Gel status: 0
Created
Louise Daugherty (Genomics England Curator)GNAS was created by LouiseD