ClinGen Dosage Sensitivity Curation Page
PAK2
- Curation Status: Complete
- id: ISCA-25379
- Date last evaluated: 2011-12-27
- Issue Type: ClinGen Gene Curation
- Gene type: protein-coding
- ClinGen: Search for information about PAK2 at clinicalgenome.org
- Entrez Gene: https://www.ncbi.nlm.nih.gov/gene/5062
- OMIM: https://omim.org/entry/605022
- ClinGen Haploinsufficiency Score: 1
- ClinGen Triplosensitivity Score: 1
- ExAC pLI score: 0.939
- See related regions:
- 3q29 recurrent region (includes DLG1)
Select assembly:
(NC_000003.11)
(NC_000003.12)
- Haploinsufficiency score: 1
- Strength of Evidence (disclaimer): Little evidence for dosage pathogenicity
| PubMed ID | Description |
|---|---|
| 21841781 | In a study comparing a large cohort of children with ID and/or DD to unaffected adult controls, the incidence of observed losses of PAK2 was 6/15,767 cases vs 0/8,329 controls. These deletions were likely not focal and included surrounding genes. |
Haploinsufficiency phenotype comments:
PMID 15918153, 20830797: Haploinsufficiency for PAK2 has been hypothesized to contribute to certain clinical manifestations (e.g. autism) of Chromosome 3q29 deletion syndrome (MIM# 609425).
- Triplosensitivity score: 1
- Strength of Evidence (disclaimer): Little evidence for dosage pathogenicity
| PubMed ID | Description |
|---|---|
| 21841781 | In a study comparing a large cohort of children with ID and/or DD to unaffected adult controls, the incidence of observed gains of PAK2 was 7/15,767 cases vs 0/8,329 controls. These duplications were likely not focal and included surrounding genes. |
Triplosensitivity phenotype comment:
PAK2 may be linked to features of Chromosome 3q29 Duplication Syndrome (MIM# 611936). However, amongst a cohort of 19 individuals with duplications of 3q29, duplication breakpoints were variable (PMID 18471269) and thus, this syndrome may not always involve PAK2.