Newborns additional phenotypes panel 1
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: 0.29
High-throughput Molecular Analysis of Pseudohypoparathyroidism 1b Patients Reveals Novel Genetic and Epigenetic Defects - PubMed (nih.gov)Created: 1 Jun 2023, 12:22 p.m. | Last Modified: 1 Jun 2023, 12:22 p.m.
Panel Version: 0.26
Caused by deletions or imprinting abnormalities in the DMR of the maternally inherited GNAS locus. We won't be able to determine parent of origin.Created: 1 Jun 2023, 12:20 p.m. | Last Modified: 1 Jun 2023, 12:20 p.m.
Panel Version: 0.25
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
- Sources
-
- Expert Review Amber
- Phenotypes
-
- Pseudohypoparathyroidism Ib
- OMIM
- 139320
- Clinvar variants
- Variants in GNAS
- Penetrance
- None
- Panels with this gene
-
- VACTERL-like phenotypes
- Intellectual disability
- Cytopenias and congenital anaemias
- Renal tubulopathies
- Albright hereditary osteodystrophy, pseudohypoparathyroidism, pseudopseudohypoparathyroidism, acrodysostosis and osteoma cutis
- Rare syndromic craniosynostosis or isolated multisuture synostosis
- Mosaic skin disorders - deep sequencing
- Congenital hypothyroidism
- Neurofibromatosis Type 1
- Severe early-onset obesity
- Limb disorders
- Skeletal dysplasia
- Osteogenesis imperfecta
- Fetal anomalies
- DDG2P
- Inherited non-medullary thyroid cancer
- Neonatal cholestasis
- Pigmentary skin disorders
- 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 Ib 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 Ib 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 1. 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 Ib