SHANK3 - Gene browser

SHANK3

SH3 and multiple ankyrin repeat domains 3

HCNC Approved Symbol: SHANK3 (HGNC:14294)
Genomic Coordinates: 22:50,672,823 - 50,733,212 (22q13.33)
Synonyms: SPANK-2, prosap2, KIAA1650, PSAP2
Disease Associations: This gene is associated with the following 2 diseases in OMIM.

13Patients

In total, 13 patients were diagnosed with a variant in the SHANK3 gene.

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

013
Patient count

Global developmental delay: 4 (30.8%)
Patient Count: 4 (30.8%)
% of total patients presenting each phenotype is shown in parentheses.
4 (30.8%)
Autism spectrum disorder: 3 (23.1%)
Patient Count: 3 (23.1%)
% of total patients presenting each phenotype is shown in parentheses.
3 (23.1%)
Autism: 3 (23.1%)
Patient Count: 3 (23.1%)
% of total patients presenting each phenotype is shown in parentheses.
3 (23.1%)
Intellectual disability: 3 (23.1%)
Patient Count: 3 (23.1%)
% of total patients presenting each phenotype is shown in parentheses.
3 (23.1%)
Thick vermilion border: 2 (15.4%)
Patient Count: 2 (15.4%)
% of total patients presenting each phenotype is shown in parentheses.
2 (15.4%)