SYNGAP1 - Gene browser

SYNGAP1

synaptic Ras GTPase activating protein 1

HCNC Approved Symbol: SYNGAP1 (HGNC:11497)
Genomic Coordinates: 6:33,418,167 - 33,453,689 (6p21.32)
Synonyms: SYNGAP, RASA5, KIAA1938
Disease Associations: This gene is associated with the following 1 diseases in OMIM.

28Patients

In total, 28 patients were diagnosed with a variant in the SYNGAP1 gene.

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

028
Patient count

Intellectual disability: 11 (39.3%)
Patient Count: 11 (39.3%)
% of total patients presenting each phenotype is shown in parentheses.
11 (39.3%)
Global developmental delay: 9 (32.1%)
Patient Count: 9 (32.1%)
% of total patients presenting each phenotype is shown in parentheses.
9 (32.1%)
Autism: 3 (10.7%)
Patient Count: 3 (10.7%)
% of total patients presenting each phenotype is shown in parentheses.
3 (10.7%)
Speech delay: 3 (10.7%)
Patient Count: 3 (10.7%)
% of total patients presenting each phenotype is shown in parentheses.
3 (10.7%)
Epilepsy: 3 (10.7%)
Patient Count: 3 (10.7%)
% of total patients presenting each phenotype is shown in parentheses.
3 (10.7%)