Aliases: KIAA1345, MKS6, JBTS9.
ai-gene-review has this gene at status IN_PROGRESS; the description is shown only once the review is complete. Read the draft upstream.
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: Loss of primary cilia (failed ciliogenesis)
subtype: Meckel syndrome, type 6
treatment: Mutation-specific exon skipping therapy (proposed)
|
| Joubert syndrome |
untyped
Causative
|
mechanism: Ciliary transition zone gating defect; Pathogenic JBTS gene defects
|
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 |
|---|---|---|---|
| ciliopathy MONDO:0005308 | AR | Definitive 2022-08-24 |
no dismech entry |
Identity from HGNC (snapshot 2026-10-01). Page layers are described in the gene pages documentation.