Previous symbols: FLN2. Aliases: ABP-280, ABPL.
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 |
|---|---|---|
| FLNC-Related Dilated Cardiomyopathy | causative |
mechanism: FLNC Truncating Variant Causing Filamin C Haploinsufficiency
|
| Hypertrophic Cardiomyopathy 26 | causative |
mechanism: Filamin C Z-Disc Cross-Linking Defect
|
| Left ventricular noncompaction | unknown | |
| Myofibrillar Myopathy | causative |
mechanism: Z-Disc and Chaperone Protein Variant
subtype: MFM5
scoped to subtype: MFM5
|
| Restrictive Cardiomyopathy | causative |
mechanism: Sarcomeric or Cytoskeletal Variant with Increased Myofilament Tension
|
| Dilated Cardiomyopathy |
untyped
Pathogenic Variants
|
mechanism: Sarcomeric and Cytoskeletal Dysfunction
|
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 |
|---|---|---|---|
| dilated cardiomyopathy MONDO:0005021 | AD | Definitive 2025-05-30 |
Dilated Cardiomyopathy
untyped
|
| myofibrillar myopathy MONDO:0018943 | AD | Definitive 2023-10-26 |
Myofibrillar Myopathy
causative
|
Identity from HGNC (snapshot 2026-10-01). Page layers are described in the gene pages documentation.