Renal Tubulopathies and related disorders
Gene: GNASEnsemblGeneIds (GRCh38): ENSG00000087460
EnsemblGeneIds (GRCh37): ENSG00000087460
OMIM: 139320, Gene2Phenotype
GNAS is in 17 panels
1 review
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
Sources: Expert listCreated: 30 Jan 2020, 9:13 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Pseudohypoparathyroidism Ia, MIM# 103580
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed)
- Sources
-
- Expert Review Green
- Expert list
- Expert Review Green
- Expert list
- Phenotypes
-
- Pseudohypoparathyroidism Ic (612462) AD
- Pituitary adenoma 3, multiple types, somatic (617686)
- Pseudohypoparathyroidism Ia (103580) AD
- Pseudohypoparathyroidism Ib (603233) AD
- Osseous heteroplasia, progressive (166350) AD
- Pseudopseudohypoparathyroidism (612463)
- OMIM
- 139320
- Clinvar variants
- Variants in GNAS
- Penetrance
- None
- Publications
- 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
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)gene: GNAS was added gene: GNAS was added to Renal Tubulopathies and related disorders. Sources: Expert list,Expert Review Green Mode of inheritance for gene: GNAS was set to MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed) Publications for gene: GNAS were set to 15331575 Phenotypes for gene: GNAS were set to Pseudohypoparathyroidism Ic (612462) AD; Pituitary adenoma 3, multiple types, somatic (617686); Pseudohypoparathyroidism Ia (103580) AD; Pseudohypoparathyroidism Ib (603233) AD; Osseous heteroplasia, progressive (166350) AD; Pseudopseudohypoparathyroidism (612463)