Gene
SHANK3
SH3 and multiple ankyrin repeat domains 3
- HGNC 14294(opens in a new tab)
- Ensembl gene ENSG00000251322(opens in a new tab)
- NCBI Gene 85358(opens in a new tab)
Summary
- Cytogenetic location
- 22q13.33
- Inheritance
- Autosomal dominant
- Also known as
- SPANK-2, prosap2, KIAA1650, PSAP2
- Locus type
- gene with protein product
- Very high
- Confident
- Low
- Very low
Reference genomeGRCh38hg38
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Intellectual Disability
- Phelan-McDermid syndromeAutosomal dominant
A condition caused by deletion or variants of SHANK3 on chromosome 22q13 that causes developmental delay, intellectual disability, absent or delayed speech and autistic features.
- ClinGen rates the link definitive
- 6 GenCC submitters rate it definitive or strong
Inheritance
- Autosomal dominant
- One changed copy, from either parent, is enough. A parent who has one passes it on to each child with a one-in-two chance.
How a genome test reads SHANK3
92
positions in SHANK3 where ClinVar classes a change as pathogenic or likely pathogenic
None of them falls in a region short reads find hard.
Traits linked to SHANK3
The Human Phenotype Ontology lists these as features of the rare conditions SHANK3 can cause. Each trait's page lists the other genes linked to it.
Abnormality of the nervous system
- Delayed speech and language development
- Global developmental delay
- Schizophrenia
- Behavioral abnormality
- Autism
- Epilepsy
- Hyperorality
- Impaired pain sensation
Show 18 more traits
- Intellectual disability
- Poor eye contact
- Poor social interactions
- Repetitive movements
- Teeth grinding
- Unsteady walk
- Wide based walk
- Abnormal periventricular white matter morphology
- Aggressive behavior
- Delayed CNS myelination
- Difficulty sleeping
- Fluid-filled sac located in membrane surrounding brain or spinal cord
- More active than typical
- Tongue thrusting
- Ventriculomegaly
- Decreased reflex response
- IQ between 34 and 49
- Motor delay
External links
Where this comes from
- HGNC: the gene's symbol, name, other symbols and location.
- GenCC and ClinGen, released 2026-10-16: which conditions the gene is linked to, and how strongly.
- The ACMG secondary findings list, SF v3.2.
- ClinVar and the GIAB stratifications: known disease-causing sites, and the regions short reads find hard.
- The Human Phenotype Ontology, release 2026-09-01: the traits linked to the gene. Find out more at hpo.jax.org.
- Data release 2026.10.16-c6eea6bf.
Cite this page
Dante Labs. (n.d.). SHANK3 gene: SH3 and multiple ankyrin repeat domains 3. Retrieved 17 October 2026, from https://dantelabs.com/genes/shank3
Dante Labs. SHANK3 gene: SH3 and multiple ankyrin repeat domains 3 [Internet]. [cited 17 October 2026]. Available from: https://dantelabs.com/genes/shank3
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