ClinGen Dosage Sensitivity Curation Page


  • Curation Status: Complete

Location Information

Select assembly: (NC_000012.11) (NC_000012.12)
Evidence for haploinsufficiency phenotype
PubMed ID Description
29698805 Gazdagh et al (2018) - DDD/Decipher paper, exomes (WES) and CMA. 5 unrelated individuals with de novo truncating mutations in the ARID2 gene. 1 individual with de novo deletion of 5' end of ARID2 gene. (1 additional individual with a larger deletion that includes ARID2). All cases had features similar to Coffin-Siris syndrome (although hypertrichosis and hypoplasia of the fifth finger nail and distal phalanx do not appear to be common in these patients, toenail hypoplasia and the presence of Wormian bones was common).
26238514 Shang et al (2015) - exomes (WES). 3 independent LOF de novo variants in ARID2. (1 additional LOF but inheritance unknown). All patients have intellectual disability and share other characteristics including attention deficit hyperactivity disorder, short stature, dysmorphic features and Wormian bones.
28124119 Bramswig et al (2017) - exomes (WES) 2 individuals with de novo ARID2 frameshift variants. Both had Coffin-Siris type phenotpyes (intellectual disability, coarsening of facial features, other recognizable facial dysmorphisms and hypoplasia of the fifth toenails).

Haploinsufficiency phenotype comments:

ARID2 haploinsufficiency leads to Coffin-Siris type phenotypes which include intellectual disability, coarsening of facial features, and hypoplasia of the fifth fingernails or toenails (PMID: 28124119).

  • Triplosensitivity score: 0
  • Strength of Evidence (disclaimer): No evidence for dosage pathogenicity

Triplosensitivity phenotype comment:

At this time there is no evidence that supports the triplosensitivity of ARID2.