Previous symbols: FLN1, FLN, OPD2, OPD1. Aliases: ABP-280.
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 |
|---|---|---|
| Chronic Intestinal Pseudoobstruction | causative germline |
mechanism: Enteric Neuron Developmental Failure
subtype: Neuropathic
scoped to subtype: Neuropathic
|
| Mitral Valve Prolapse | causative |
mechanism: Valve Developmental and Cytoskeletal Gene Lesion
|
| Otopalatodigital Spectrum Disorders | causative germline |
mechanism: FLNA Gain-of-Function and Cytoskeletal Signaling Dysregulation
subtype: FMD; MNS; OPD1; OPD2
|
| Prune Belly Syndrome | unknown | |
| Terminal Osseous Dysplasia | causative germline | |
| FLNA Intestinal Pseudoobstruction |
untyped
Pathogenic Variants
|
mechanism: FLNA Deficiency and Enteric Neuron Development Failure
|
| Periventricular Nodular Heterotopia |
untyped
Pathogenic Variants
|
mechanism: FLNA Loss of Function and Neuronal Migration Failure
|
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 |
|---|---|---|---|
| periventricular nodular heterotopia MONDO:0020341 | XL | Definitive 2020-12-27 |
no dismech entry |
Identity from HGNC (snapshot 2026-10-01). Page layers are described in the gene pages documentation.