Previous symbols: ACTC. Aliases: CMD1R.
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 |
|---|---|---|
| Atrial Septal Defect | causative germline |
mechanism: Abnormal Atrial Septation
subtype: ASD5
|
| Dilated Cardiomyopathy 1R | causative |
mechanism: ACTC1 Missense Variant in Cardiac Alpha-Actin
|
| Hypertrophic Cardiomyopathy 11 | causative |
mechanism: ACTC1 Missense Variant in Alpha-Cardiac Actin
|
| Restrictive Cardiomyopathy | causative |
mechanism: Sarcomeric or Cytoskeletal Variant with Increased Myofilament Tension
|
| Camptodactyly |
untyped
Pathogenic Variants
|
|
| Dilated Cardiomyopathy |
untyped
Pathogenic Variants
|
mechanism: Sarcomeric and Cytoskeletal Dysfunction
|
| Hypertrophic Cardiomyopathy |
untyped
Pathogenic Variants
|
mechanism: Sarcomere Protein Mutations
|
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 |
|---|---|---|---|
| hypertrophic cardiomyopathy MONDO:0005045 | AD | Definitive 2021-06-23 |
Hypertrophic Cardiomyopathy
untyped
|
| dilated cardiomyopathy 1R MONDO:0013261 | AD | Moderate 2026-03-04 |
Dilated Cardiomyopathy 1R
causative
|
| arrhythmogenic right ventricular cardiomyopathy MONDO:0016587 | AD | No Known Disease Relationship 2019-03-15 |
Identity from HGNC (snapshot 2026-10-01). Page layers are described in the gene pages documentation.