Previous symbols: FLN1L, LRS1. Aliases: TAP, TABP, ABP-278, FH1.
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 |
|---|---|---|
| Atelosteogenesis Type I | causative germline |
mechanism: Monoallelic FLNB gain-of-function and abnormal actin binding
diagnosis: Molecular FLNB Testing and Spectrum Diagnosis
|
| Atelosteogenesis Type III | causative germline |
mechanism: Monoallelic FLNB gain-of-function cytoskeletal disorder
diagnosis: Molecular FLNB Confirmation and Spectrum Assignment
|
| Larsen Syndrome |
untyped
Causative
|
mechanism: Gain-of-Function Actin-Binding Dysregulation
|
| Spondylocarpotarsal Synostosis Syndrome |
untyped
Causative
|
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 |
|---|---|---|---|
| FLNB-associated autosomal dominant filamin related bone disorder MONDO:1060173 | AD | Definitive 2025-09-03 |
no dismech entry |
Identity from HGNC (snapshot 2026-10-01). Page layers are described in the gene pages documentation.