GNAS - Gene browser

GNAS

GNAS complex locus

HCNC Approved Symbol: GNAS (HGNC:4392)
Genomic Coordinates: 20:58,839,748 - 58,911,192 (20q13.32)
Synonyms: NESP55, NESP, GNASXL, GPSA, SCG6, SgVI, GNAS1
Disease Associations: This gene is associated with the following 8 diseases in OMIM.

Diagnosed Cases

35Patients

In total, 35 patients were diagnosed with a variant in the GNAS gene.

(Top 5 only, Patient count*)
*% of total patients presenting each phenotype is shown in parentheses.

035
Patient count

Pseudohypoparathyroidism: 10 (28.6%)
Patient Count: 10 (28.6%)
% of total patients presenting each phenotype is shown in parentheses.
10 (28.6%)
Hypothyroidism: 10 (28.6%)
Patient Count: 10 (28.6%)
% of total patients presenting each phenotype is shown in parentheses.
10 (28.6%)
Obesity: 9 (25.7%)
Patient Count: 9 (25.7%)
% of total patients presenting each phenotype is shown in parentheses.
9 (25.7%)
Short stature: 7 (20.0%)
Patient Count: 7 (20.0%)
% of total patients presenting each phenotype is shown in parentheses.
7 (20.0%)
Brachydactyly: 5 (14.3%)
Patient Count: 5 (14.3%)
% of total patients presenting each phenotype is shown in parentheses.
5 (14.3%)