Aliases: KIAA0373, FLJ13615, 3H11Ag, rd16, NPHP6, JBTS5, SLSN6, LCA10, MKS4, BBS14, CT87, POC3.
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 |
|---|---|---|
| Meckel Syndrome | causative germline |
mechanism: Basal body localization without proper ciliogenesis
subtype: Meckel syndrome, type 4
|
| Senior-Loken Syndrome | causative |
mechanism: Ciliary Transition Zone Dysfunction
subtype: SLSN6
scoped to subtype: SLSN6
|
| Bardet-Biedl syndrome |
untyped
Pathogenic biallelic variants
|
mechanism: Ciliary transition zone and basal body dysfunction; Pathogenic BBS gene defects
|
| Joubert syndrome |
untyped
Causative
|
mechanism: Ciliary transition zone gating defect; Defective canonical Wnt signaling at the cerebellar midline; Pathogenic JBTS gene defects; Photoreceptor outer segment dystrophy; Renal tubular ciliary dysfunction
|
| Leber Congenital Amaurosis 10 |
untyped
Causative
|
treatment: Sepofarsen (QR-110) intravitreal antisense oligonucleotide
|
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 |
|---|---|---|---|
| CEP290-related ciliopathy MONDO:0100451 | AR | Definitive 2022-02-03 |
no dismech entry |
Identity from HGNC (snapshot 2026-10-01). Page layers are described in the gene pages documentation.