Hand and foot malformations
Gene: GNASEnsemblGeneIds (GRCh38): ENSG00000087460
EnsemblGeneIds (GRCh37): ENSG00000087460
OMIM: 139320, Gene2Phenotype
GNAS is in 17 panels
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Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed)
- Sources
-
- Expert list
- Expert Review Green
- Phenotypes
-
- McCune-Albright syndrome, somatic, mosaic 174800
- ACTH-independent macronodular adrenal hyperplasia 219080 IC
- Osseous heteroplasia, progressive 166350
- Pseudohypoparathyroidism Ic 612462
- Pseudopseudohypoparathyroidism 612463
- Pseudohypoparathyroidism Ia 103580
- Pseudohypoparathyroidism Ib 603233
- 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
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Bryony Thompson (Royal Melbourne Hospital)gene: GNAS was added gene: GNAS was added to Hand and foot malformation. Sources: Expert Review Green,Expert list Mode of inheritance for gene: GNAS was set to MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed) Phenotypes for gene: GNAS were set to McCune-Albright syndrome, somatic, mosaic 174800; ACTH-independent macronodular adrenal hyperplasia 219080 IC; Osseous heteroplasia, progressive 166350; Pseudohypoparathyroidism Ic 612462; Pseudopseudohypoparathyroidism 612463; Pseudohypoparathyroidism Ia 103580; Pseudohypoparathyroidism Ib 603233