ClinGen Dosage Sensitivity Curation Page

ASXL1

  • Curation Status: Complete

Location Information

Select assembly: (NC_000020.10) (NC_000020.11)
Evidence for haploinsufficiency phenotype
PubMed ID Description
21706002 Hoischen et al (2012) identified heterozygous de novo nonsense mutations in ASXL1 in 3 patients with Bohring syndrome using exome sequencing. Sanger sequencing of ten additional individuals with the initial diagnosis of Bohring-Opitz syndrome identified de novo nonsense mutations in four further individuals. None of these variants was identified in more than 100 control chromosomes or in any of over 200 in-house sequenced exomes.
22419483 Magini at al (2012) report a further two novel cases carrying two previously undescribed de novo mutations in exon 13 including a frameshift mutation due to a heterozygous deletion of five bps causing a premature stop codon and a substitution c.2893C>T, corresponding to the nonsense mutation. Neither dbSNP nor 1000 Genomes databases reported these alterations, supporting their causative role.
  • Triplosensitivity score: 0
  • Strength of Evidence (disclaimer): No evidence for dosage pathogenicity