Variant Synonymizer: Platform to identify mutations defined in different ways is available now!
Over 2,000 gene–disease validation summaries are now available—no login required!
The histone acetyltransferase gene KAT6B was included in a targeted next-generation sequencing panel of 18 Ras-MAPK pathway genes for patients with RASopathy. In a cohort of 51 unrelated probands and four affected relatives, no pathogenic or likely pathogenic KAT6B variants were reported, and no familial segregation was observed (PMID:35418823). No experimental studies to date have linked KAT6B dysfunction to aberrant Ras-MAPK signaling or RASopathy phenotypes. Therefore, there is currently no evidence supporting a causal role for KAT6B in RASopathies, and further investigation is required to evaluate any potential association.
Gene–Disease AssociationLimitedNo pathogenic KAT6B variants identified among 51 RASopathy probands and four affected relatives in a large NGS panel study ([PMID:35418823]). Genetic EvidenceLimitedTargeted sequencing of KAT6B in 51 unrelated probands yielded no P/LP variants ([PMID:35418823]). Functional EvidenceNo evidenceNo functional assays have demonstrated a role for KAT6B in Ras-MAPK signaling or RASopathy pathogenesis. |