Congenital hypothyroidism
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)
Hypothyroidism is a feature.Created: 3 Feb 2021, 10:36 a.m. | Last Modified: 3 Feb 2021, 10:36 a.m.
Panel Version: 0.26
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Pseudohypoparathyroidism Ia, MIM# 103580
Publications
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed)
- Sources
-
- Expert Review Green
- Genomics England PanelApp
- Phenotypes
-
- Pseudohypoparathyroidism Ia, MIM#103580 (Hypothyroidism)
- 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
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: gnas has been classified as Green List (High Evidence).
Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Phenotypes for gene: GNAS were changed from Pseudohypoparathyroidism Ia, 103580 (Hypothyroidism) to Pseudohypoparathyroidism Ia, MIM#103580 (Hypothyroidism)
Set publications
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Publications for gene: GNAS were set to 27922245; 17299070; 23412865
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 Congenital hypothyroidism. Sources: Expert Review Green,Genomics England PanelApp 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 27922245; 17299070; 23412865 Phenotypes for gene: GNAS were set to Pseudohypoparathyroidism Ia, 103580 (Hypothyroidism)