TMEM216

transmembrane protein 216

3 disorders 1 untyped 1 causative 1 no genetic record 11q13.1 gene with protein product

HGNC:25018 Monarch NCBI Gene 51259 ENSG00000187049 UniProt Q9P0N5 OMIM 613277

Previous symbols: CORS2, MKS2. Aliases: MGC13379, HSPC244, JBTS2.

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: Basal body localization without proper ciliogenesis subtype: Meckel syndrome, type 2
Joubert syndrome	untyped Causative	mechanism: Ciliary gene mutations disrupt primary cilium assembly scoped to subtype: Joubert syndrome 2
Orofaciodigital Syndrome	no genetic record	mechanism: Ciliary and Centriolar Gene Defect subtype: OFD 6

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 2024-09-09	no dismech entry

Mechanism modules · computed from kb/

ciliopathy_dysfunction via Meckel Syndrome

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