Previous symbols: CSNB2, AIED. Aliases: Cav1.4, JM8, JMC8, CSNBX2, CORDX3, CSNB2A, OA2.
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 |
|---|---|---|
| Aland Islands Eye Disease | causative germline |
mechanism: CACNA1F Cav1.4 Channel Variant
|
| CACNA1F-Related Retinopathy | causative | |
| Congenital Stationary Night Blindness | causative |
mechanism: Presynaptic Calcium Channel Defect at the Photoreceptor Ribbon Synapse
subtype: CSNB2A
scoped to subtype: icCSNB
|
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 |
|---|---|---|---|
| CACNA1F-related retinopathy MONDO:0700243 | XL | Definitive 2023-01-05 |
CACNA1F-Related Retinopathy
causative
|
Identity from HGNC (snapshot 2026-10-01). Page layers are described in the gene pages documentation.