This Panel is marked as Internal
Anaemias and red cell disorders
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
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
-
- Phenotypes
-
- Acute myeloid leukaemia (AML)
- OMIM
- 139320
- Clinvar variants
- Variants in GNAS
- Penetrance
- Complete
- Panels with this gene
-
- VACTERL-like phenotypes
- Limb disorders
- Congenital hypothyroidism
- Cytopenias and congenital anaemias
- Osteogenesis imperfecta
- Mosaic skin disorders - deep sequencing
- Cholestasis
- Neurofibromatosis Type 1
- Rare syndromic craniosynostosis or isolated multisuture synostosis
- DDG2P
- Severe early-onset obesity
- Fetal anomalies
- Pigmentary skin disorders
- Intellectual disability
- Inherited non-medullary thyroid cancer
- Renal tubulopathies
- Neonatal cholestasis
- Skeletal dysplasia
- Albright hereditary osteodystrophy, pseudohypoparathyroidism, pseudopseudohypoparathyroidism, acrodysostosis and osteoma cutis
History Filter Activity
16 Jan 2017, Gel status: 0
Approved Gene
Louise Daugherty (Genomics England Curator)This proposed gene was validated and added to this panel
16 Jan 2017, Gel status: 0
Created
BRIDGE consortium (NIHRBR-RD)GNAS was created by BRIDGE
16 Jan 2017, Gel status: 0
Added New Source
BRIDGE consortium (NIHRBR-RD)GNAS was added to Anaemias and red cell disorderspanel. Sources: BRIDGE consortium (NIHRBR-RD)