Previous symbols: FKHL13. Aliases: HFH-4, HFH4.
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 |
|---|---|---|
| Congenital Hydrocephalus | causative de novo |
mechanism: Ependymal Motile Cilia Beat Dysfunction and Loss of Directional CSF Flow
|
| Double Outlet Right Ventricle | causative germline | |
| Primary_Ciliary_Dyskinesia |
untyped
Pathogenic Variants
|
mechanism: Ependymal Ciliary Dysfunction; Reduced Multiciliogenesis
|
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 |
|---|---|---|---|
| ciliary dyskinesia, primary, 43 MONDO:0032874 | AD | Definitive 2025-10-17 |
no dismech entry |
Identity from HGNC (snapshot 2026-10-01). Page layers are described in the gene pages documentation.