ClinGen Dosage Sensitivity Curation Page


  • Curation Status: Complete

Location Information

Select assembly: (NC_000021.8) (NC_000021.9)
Evidence for haploinsufficiency phenotype
PubMed ID Description
18521840 Poelmans et al., detected a deletion on 21q22.3 containing four genes (PCNT, DIP2A, S100B, and PRMT2) in a family. The deletion cosegregated with dyslexia in a father and his three sons.
25363768 Iossifov et al. reported the detection of a de novo nonsense variant (21:47957426:G:A) and a de novo frameshift variant (21:47958429:A:ACTGGTCT) in the male probands of two autism families (Simons simplex collection ID 13106 and 13012 respectively). The unaffected siblings did not have the same variants. The two de novo variants were identified among 2517 autism families. The frameshift variant was reported in an earlier paper by the same first author (PMID: 22542183)
24643514 Egger etal. reported a ASD patient with a de novo 2.9Mb deletion at 21q22.3 (chr21:43,994,161-46,921,385) involving DIAP2A gene. There are about 100 refSeq genes at this interval.

Haploinsufficiency phenotype comments:

Two de novo LOF variants in autism patients and one de novo complete deletion (along with 100 other genes) in an autism patient, as well as one complete deletion (along with three other genes) segregated in a family with dyslexia

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