Pseudohypoparathyroidism and Albright Hereditary Osteodystrophy
Gene: GNAS
GNAS (GNAS complex locus)
EnsemblGeneIds (GRCh38): ENSG00000087460
EnsemblGeneIds (GRCh37): ENSG00000087460
OMIM: 139320, Gene2Phenotype
GNAS is in 17 panels
EnsemblGeneIds (GRCh38): ENSG00000087460
EnsemblGeneIds (GRCh37): ENSG00000087460
OMIM: 139320, Gene2Phenotype
GNAS is in 17 panels
0 reviews
Details
- Mode of Inheritance
- Unknown
- Sources
-
- Victorian Clinical Genetics Services
- Expert Review Green
- OMIM
- 139320
- Clinvar variants
- Variants in GNAS
- Penetrance
- None
- Panels with this gene
-
- Calcium and Phosphate disorders
- Brain Calcification
- BabyScreen+ newborn screening
- Intellectual disability syndromic and non-syndromic
- Imprinting disorders
- Primary Ovarian Insufficiency_Premature Ovarian Failure
- Pseudohypoparathyroidism and Albright Hereditary Osteodystrophy
- Hand and foot malformations
- Craniosynostosis
- Congenital hypothyroidism
- Skeletal dysplasia
- Fetal anomalies
- Additional findings_Paediatric
- Mosaic skin disorders
- Mendeliome
- Renal Tubulopathies and related disorders
- Severe early-onset obesity
History Filter Activity
17 Nov 2019, Gel status: 3
Created, Added New Source, Set mode of inheritance
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)gene: GNAS was added gene: GNAS was added to Pseudohypoparathyroidism, Albright Hereditary Osteodystrophy_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: GNAS was set to Unknown