Newborns additional phenotypes panel 2
Gene: GNASEnsemblGeneIds (GRCh38): ENSG00000087460
EnsemblGeneIds (GRCh37): ENSG00000087460
OMIM: 139320, Gene2Phenotype
GNAS is in 19 panels
1 review
Mafalda Gomes (Genomics England Curator)
The mechanism of pathogenicity is loss-of-function (LOF).Created: 1 Jun 2023, 2:40 p.m. | Last Modified: 1 Jun 2023, 2:40 p.m.
Panel Version: 0.8
Genetic and epigenetic alterations in the GNAS locus and clinical consequences in Pseudohypoparathyroidism: Italian common healthcare pathways adoption - PubMed (nih.gov)Created: 1 Jun 2023, 12:22 p.m. | Last Modified: 1 Jun 2023, 12:22 p.m.
Panel Version: 0.5
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
- Sources
-
- Expert Review Amber
- Phenotypes
-
- Pseudohypoparathyroidism Ic
- OMIM
- 139320
- Clinvar variants
- Variants in GNAS
- Penetrance
- None
- Panels with this gene
-
- VACTERL-like phenotypes
- Severe early-onset obesity
- DDG2P
- Cytopenias and congenital anaemias
- Albright hereditary osteodystrophy, pseudohypoparathyroidism, pseudopseudohypoparathyroidism, acrodysostosis and osteoma cutis
- Fetal anomalies
- Mosaic skin disorders - deep sequencing
- Renal tubulopathies
- Neurofibromatosis Type 1
- Rare syndromic craniosynostosis or isolated multisuture synostosis
- Cholestasis
- Limb disorders
- Intellectual disability
- Osteogenesis imperfecta
- Pigmentary skin disorders
- Congenital hypothyroidism
- Skeletal dysplasia
- Inherited non-medullary thyroid cancer
- Neonatal cholestasis
History Filter Activity
Added New Source, Set Phenotypes, Status Update
Mafalda Gomes (Genomics England Curator)Source Expert Review Amber was added to GNAS. Added phenotypes Pseudohypoparathyroidism Ic for gene: GNAS Rating Changed from Green List (high evidence) to Amber List (moderate evidence)
Added New Source, Set Phenotypes, Status Update
Mafalda Gomes (Genomics England Curator)Source Expert Review Green was added to GNAS. Added phenotypes Pseudohypoparathyroidism Ic for gene: GNAS Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Mafalda Gomes (Genomics England Curator)gene: GNAS was added gene: GNAS was added to Newborns additional phenotypes panel 2. Sources: Expert Review Amber Mode of inheritance for gene: GNAS was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: GNAS were set to Pseudohypoparathyroidism Ic