ClinGen Dosage Sensitivity Curation Page


  • Curation Status: Complete

Location Information

Select assembly: (NC_000008.10) (NC_000008.11)
Evidence for haploinsufficiency phenotype
PubMed ID Description
25728777 Tham et al. (2015): A multi-center whole exome study found de novo, heterozygous truncating mutations in KAT6A six individuals from five families. The inactivating mutations were associated with a common phenotype of intellectual disability, hypotonia, cranio-facial and cardiac defects.
27133397 Millan et al.(2016): Whole exome studies of 1,028 trios revealed de novo heterozygous mutations in KAT6A in six unrelated patients. Five of these were truncating and one was a missense mutation. All six patients had severe neurodevelopmental delay. Phenotypes shared amongst some included hypotonia, speech impairment, microcephaly and dysmorphic features.
25728775 Arboleda et al. (2015): Clinical exome sequencing identified de novo, heterozygous, nonsense mutations in KAT6A in four unrelated patients. All four had primary microcephaly, global delay with profound speech delay, and craniofacial abnormalities.

Haploinsufficiency phenotype comments:

KAT6A plays important roles in transcriptional regulation and developmental gene expression. Although originally identified as part of a fusion with TIF2 in AML, recent exome trio studies have found that de novo, heterozygous inactivating mutations in KAT6A are responsible for Mental retardation, autosomal dominant 32.

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