Aliases: NY-CO-8, CCCAP, SLSN7, NPHP10, BBS16.
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 |
|---|---|---|
| Senior-Loken Syndrome | causative |
mechanism: Ciliary Transition Zone Dysfunction
subtype: SLSN7
scoped to subtype: SLSN7
|
| Bardet-Biedl syndrome |
untyped
Pathogenic biallelic variants
|
mechanism: Ciliary transition zone and basal body dysfunction
|
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 |
|---|---|---|---|
| Bardet-Biedl syndrome 16 MONDO:0014444 | AR | Definitive 2024-08-01 |
no dismech entry |
Identity from HGNC (snapshot 2026-10-01). Page layers are described in the gene pages documentation.