Previous symbols: RP7, RDS. Aliases: TSPAN22, rd2, CACD2.
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 |
|---|---|---|
| PRPH2-Related Retinopathy | causative |
mechanism: PRPH2 complex assembly defect
subtype: Choroidal dystrophy, central areolar 2; Leber congenital amaurosis 18; Patterned macular dystrophy 1; Retinitis pigmentosa 7; Retinitis pigmentosa 7, digenic; Vitelliform macular dystrophy 3
|
| Central Areolar Choroidal Dystrophy |
untyped
Causative
|
scoped to subtype: CACD3
|
| Adult-Onset Foveomacular Vitelliform Dystrophy | no genetic record |
mechanism: Photoreceptor Outer-Segment / RPE Interface Dysfunction
subtype: PRPH2-related
|
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 |
|---|---|---|---|
| PRPH2-related retinopathy MONDO:1040055 | SD | Definitive 2024-02-01 |
PRPH2-Related Retinopathy
causative
|
Identity from HGNC (snapshot 2026-10-01). Page layers are described in the gene pages documentation.