RECQL4 - 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
Baller-Gerold Syndrome	untyped Causative	mechanism: Biallelic RECQL4 Loss of Function subtype: RECQL4-positive
RAPADILINO Syndrome	untyped Causative germline partial loss of function	mechanism: Biallelic RECQL4 Pathogenic Variants
Rothmund-Thomson Syndrome	untyped Causative	mechanism: RECQL4 DNA Helicase Deficiency subtype: Type 2 scoped to subtype: Type 2

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
congenital heart disease MONDO:0005453	AD	No Known Disease Relationship 2025-02-10	Congenital Heart Disease not named
Rothmund-Thomson syndrome MONDO:0010002	AR	Definitive 2018-10-11	Rothmund-Thomson Syndrome untyped

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