SHANK1

SHANK1

SH3 and multiple ankyrin repeat domains 1

HCNC Approved Symbol: SHANK1 (HGNC:15474)
Genomic Coordinates: 19:50,659,255 - 50,719,802 (19q13.33)
Synonyms: SSTRIP, SPANK-1, synamon
Disease Associations: Currently, this gene is not associated with any human disease in OMIM.
However, the following publication(s) suggest a possible gene disease association.

Diagnosed Cases

1Patient

In total, 1 patient was diagnosed with a variant in the SHANK1 gene.

Frequently observed phenotypes(Top 5 only)

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

01
Patient count

Delayed psychomotor development: 1 (100.0%)
Patient Count: 1 (100.0%)
% of total patients presenting each phenotype is shown in parentheses.
1 (100.0%)
Paraplegia/paraparesis: 1 (100.0%)
Patient Count: 1 (100.0%)
% of total patients presenting each phenotype is shown in parentheses.
1 (100.0%)
Speech delay: 1 (100.0%)
Patient Count: 1 (100.0%)
% of total patients presenting each phenotype is shown in parentheses.
1 (100.0%)

Last updated: 2024-06-30