MKS1

MKS transition zone complex subunit 1

3 disorders 2 untyped 1 causative 17q22 gene with protein product

HGNC:7121 Monarch NCBI Gene 54903 ENSG00000011143 UniProt Q9NXB0 OMIM 609883

Previous symbols: MKS. Aliases: FLJ20345, POC12, BBS13.

In the knowledge base · computed from kb/ at build time

Disorders

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: Ciliary base protein dysfunction (MKS1) subtype: Meckel syndrome, type 1
Bardet-Biedl syndrome	untyped Pathogenic biallelic variants	mechanism: Ciliary transition zone and basal body dysfunction
Joubert syndrome	untyped Causative	mechanism: Ciliary transition zone gating defect; Pathogenic JBTS gene defects

ClinGen gene–disease validity · snapshot 2026-10-03 · matched to entries by MONDO

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 2024-09-05	no dismech entry

Mechanism modules · computed from kb/

ciliopathy_dysfunction via Bardet-Biedl syndrome, Joubert syndrome

Identity from HGNC (snapshot 2026-10-01). Page layers are described in the gene pages documentation.