TBC1D32

TBC1 domain family member 32

2 disorders 1 untyped 1 no genetic record 6q22.31 gene with protein product

HGNC:21485 Monarch NCBI Gene 221322 ENSG00000146350 UniProt Q96NH3 OMIM 615867

Previous symbols: C6orf171, C6orf170. Aliases: FLJ30899, dJ310J6.1, FLJ34235, bA57L9.1, BROMI.

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
Alsahan-Harris Syndrome	untyped Causative	mechanism: TBC1D32/BROMI Ciliary Trafficking and IFT Turnaround Defect animal model: Xenopus laevis
Orofaciodigital Syndrome	no genetic record	subtype: OFD IX

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 2025-04-18	no dismech entry

Mechanism modules · computed from kb/

ciliopathy_dysfunction via Alsahan-Harris Syndrome

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