Aliases: CLP, MLP, CMD1M.
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 |
|---|---|---|
| Hypertrophic Cardiomyopathy | causative germline |
mechanism: Sarcomere Protein Mutations
|
| Hypertrophic Cardiomyopathy 12 | causativemodifier germline |
mechanism: CSRP3 Germline Variant
|
| Dilated Cardiomyopathy 1M |
untyped
Heterozygous CSRP3 missense variants reported in dilated cardiomyopathy (W4R, K69R and single variants from cohort screens). The relationship is classified Limited by ClinGen. relationship_type is left unset because CAUSATIVE is reserved for Definitive or Strong relationships.
germline
CLINGEN: limited
|
mechanism: Heterozygous CSRP3 Missense Variant; Loss of MLP Binding to Telethonin and Alpha-Actinin-2
|
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 | SD | Definitive 2023-08-09 |
Hypertrophic Cardiomyopathy
causative
|
| dilated cardiomyopathy 1M MONDO:0011840 | AD | Limited 2026-03-04 |
Dilated Cardiomyopathy 1M
untyped
|
Identity from HGNC (snapshot 2026-10-01). Page layers are described in the gene pages documentation.