RPS6KA3 - 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
Non-Syndromic X-Linked Intellectual Disability	causative	mechanism: Convergent Disruption of Neuronal Function subtype: MRX19 scoped to subtype: MRX19
Coffin-Lowry syndrome	untyped Loss-of-function	mechanism: RPS6KA3 / RSK2 loss of function

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
Coffin-Lowry syndrome MONDO:0010561	XL	Definitive 2019-05-28	Coffin-Lowry syndrome untyped

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