ClinGen Dosage Sensitivity Curation Page

ASXL2

  • Curation Status: Complete

Location Information

Select assembly: (NC_000002.11) (NC_000002.12)
  • Haploinsufficiency score: 0
  • Strength of Evidence (disclaimer): No evidence for dosage pathogenicity

Haploinsufficiency phenotype comments:

27693232 Shashi (2016) performed whole exome sequencing on six unrelated probands with developmental delay, macrocephaly, dysmorphic features. All six had de novo truncating variants in ASXL2. The patients had a specific phenotype including: macrocephaly, prominent eyes, arched eyebrows, hypertelorism, glabellar nevus flammeus, neonatal feeding difficulties, hypotonia, developmental disabilities, described as Shashi-Pena syndrome. mRNA studies performed support dominant-negative effect due to mutated transcripts escaping nonsense-mediated decay.

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