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Details of Gene

Item Details
Gene/Locus name

GNAS (also called NESP55,NESP,GNASXL,GPSA,SCG6,SgVI)

Long Name

GNAS complex locus (OMIM 139320)

Laboratories
Associated Disorders

OMIM 166350 : Osseous heteroplasia, progressive
OMIM 174800 : McCune-Albright syndrome, somatic, mosai
OMIM 617686 : Pituitary adenoma 3, multiple types, somatic
OMIM 219080 : ACTH-independent macronodular adrenal hyperplasia
OMIM 103580 : Pseudohypoparathyroidism Ia
OMIM 603233 : Pseudohypoparathyroidism Ib
OMIM 612462 : Pseudohypoparathyroidism Ic
OMIM 612463 : Pseudopseudohypoparathyroidism

Interpretation / Comment

Laboratory methods do not necessarily identify all of the clinically significant variants in a gene. The failure to identify a variant does not necessarily mean that the gene is normal. Variants in a gene may cause more than one disease, and the identification of a clinically significant variant does not necessarily indicate the specific disease that the patient or relatives may be at risk of developing. Conversely, the disease/s associated with a gene might also be caused by mutations in other genes, and the failure to identify a clinically significant variant in one gene does not necessarily alter the clinical diagnosis or risk for relatives.

HGNC Last Edit Date

5/10/2016