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 |
|---|---|---|
| Cardiomyopathy Dilated 2I |
untyped
Autosomal recessive cause of pediatric dilated cardiomyopathy supported by homozygous loss-of-function variants in four families (five genotyped patients), patient-cell loss-of-function studies and concordant mouse models. The human evidence is limited to a few families, and there is no ClinGen gene-disease validity classification.
germline
loss of function
|
mechanism: Biallelic CAP2 Loss-of-Function Variants; CAP2 Protein Deficiency
|
| Dilated Cardiomyopathy |
untyped
Autosomal recessive causal pathogenic variant. CAP2 encodes a cyclase-associated actin cytoskeleton regulatory protein required for the kinetics of actin filament repolymerization; a homozygous splice-consensus variant in a consanguineous Bedouin family caused DCM with supraventricular tachycardia, and patient fibroblasts showed altered actin repolymerization kinetics.
|
mechanism: Sarcomeric and Cytoskeletal Dysfunction
|
Identity from HGNC (snapshot 2026-10-01). Page layers are described in the gene pages documentation.