This Panel is marked as Internal
Non-Fanconi anaemia
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
Helen Savage (Congenica Ltd)
Some overlapping phenotypic features, as defined in the inclusion criteria, between Fanconi anaemia and Pseudohypoparathyroidism Ia.Created: 29 Jan 2016, 2:18 p.m.
Phenotypes
Pseudohypoparathyroidism Ia
Details
- Sources
-
- Emory Genetics Laboratory
- Phenotypes
-
- Limb Malformation
- OMIM
- 139320
- Clinvar variants
- Variants in GNAS
- Penetrance
- Complete
- 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
30 Sep 2015, Gel status: 1
Added New Source
Ellen McDonagh (Genomics England Curator)GNAS was added to Non-Fanconi anaemiapanel. Source: Emory Genetics Laboratory
15 Jul 2015, Gel status: 1
Added New Source
Ellen McDonagh (Genomics England Curator)GNAS was added to Non-Fanconi anaemiapanel. Sources: Emory Genetics Laboratory