ClinGen Dosage Sensitivity Curation Page

PAK2

  • Curation Status: Complete

Location Information

Select assembly: (NC_000003.11) (NC_000003.12)
  • Haploinsufficiency score: 1
  • Strength of Evidence (disclaimer): Little evidence for dosage pathogenicity
Evidence for haploinsufficiency phenotype
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
Evidence for triplosensitivity phenotype
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.