KAT6B - dismech genes

In the knowledge base · computed from kb/ at build time

Disorders

Relationship is the entry's genetic[].relationship_type. untyped means the entry has a genetic record for the gene but does not type it; its free-text association is shown instead.

Disorder	Relationship	Where the gene appears
Genitopatellar Syndrome	untyped CAUSAL	mechanism: KAT6B C-terminal truncating variants
Say-Barber-Biesecker-Young-Simpson Syndrome	untyped CAUSAL de novo	mechanism: KAT6B protein-truncating variants (proximal NMD-sensitive and distal last-exon alleles) animal model: Mouse (Mus musculus)

ClinGen gene–disease validity · snapshot 2026-10-03 · matched to entries by MONDO

An entry matches when ClinGen's MONDO disease is the entry's own disease term, a subtype term, or an exact-match mapping. An amber status marks an entry ClinGen supports the gene for (Definitive, Strong or Moderate) whose own record does not type it. A Limited, Disputed or Refuted tier on such an entry is not a gap.

ClinGen disease	MOI	Classification	dismech entry
RASopathy MONDO:0021060	AD	Disputed 2019-02-04	no dismech entry
KAT6B-related multiple congenital anomalies syndrome MONDO:0036042	AD	Definitive 2023-01-04	no dismech entry

Identity from HGNC (snapshot 2026-10-01). Page layers are described in the gene pages documentation.