SRCAP - 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
Developmental Delay, Hypotonia, Musculoskeletal Defects, and Behavioral Abnormalities	causative de novo loss of function	mechanism: SRCAP Complex Haploinsufficiency; SRCAP Loss-of-Function Allele Outside the FLHS Hotspot animal model: Srcap heterozygous knockout mouse diagnosis: Trio exome or genome sequencing
Floating-Harbor syndrome	untyped Causal heterozygous truncating variant	mechanism: SRCAP truncation-driven chromatin dysregulation diagnosis: SRCAP molecular genetic testing

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
Floating-Harbor syndrome MONDO:0007621	AD	Definitive 2023-08-01	Floating-Harbor syndrome untyped

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