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Skeletal dysplasia

Gene: GNAS

Green List (high evidence)

GNAS (GNAS complex locus)
EnsemblGeneIds (GRCh38): ENSG00000087460
EnsemblGeneIds (GRCh37): ENSG00000087460
OMIM: 139320, Gene2Phenotype
GNAS is in 17 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Well established gene-disease associations.
Created: 19 May 2022, 10:17 a.m. | Last Modified: 19 May 2022, 10:17 a.m.
Panel Version: 0.14609

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Osseous heteroplasia, progressive (166350) AD; Pituitary adenoma 3, multiple types, somatic (617686); Pseudohypoparathyroidism Ia (103580) AD; Pseudohypoparathyroidism Ib (603233) AD; Pseudohypoparathyroidism Ic (612462) AD; Pseudopseudohypoparathyroidism (612463)

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed)
Sources
  • Expert Review Green
  • Expert Review Green
  • NHS GMS
  • Emory Genetics Laboratory
  • Victorian Clinical Genetics Services
Phenotypes
  • Pseudohypoparathyroidism Ia 103580
  • ACTH-independent macronodular adrenal hyperplasia 219080 IC
  • Pseudohypoparathyroidism Ib 603233
  • Pseudopseudohypoparathyroidism 612463
  • McCune-Albright syndrome, somatic, mosaic 174800
  • Pseudohypoparathyroidism Ic 612462
  • Osseous heteroplasia, progressive 166350
OMIM
139320
Clinvar variants
Variants in GNAS
Penetrance
None
Panels with this gene

History Filter Activity

17 Dec 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: GNAS was added gene: GNAS was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory,NHS GMS,Expert Review Green 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 Pseudohypoparathyroidism Ia 103580; ACTH-independent macronodular adrenal hyperplasia 219080 IC; Pseudohypoparathyroidism Ib 603233; Pseudopseudohypoparathyroidism 612463; McCune-Albright syndrome, somatic, mosaic 174800; Pseudohypoparathyroidism Ic 612462; Osseous heteroplasia, progressive 166350