IFT74

intraflagellar transport 74

3 disorders 3 untyped 9p21.2 gene with protein product

HGNC:21424 Monarch NCBI Gene 80173 ENSG00000096872 UniProt Q96LB3 OMIM 608040

Previous symbols: CCDC2. Aliases: CMG1, CMG-1, FLJ22621.

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
Bardet-Biedl syndrome	untyped Pathogenic biallelic variants	mechanism: ARL6/IFT BBSome membrane recruitment and transport defect
Jeune Asphyxiating Thoracic Dystrophy	untyped Causative	scoped to subtype: IFT74-associated
Joubert syndrome	untyped Causative	mechanism: Impaired intraciliary transport

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-IFT74 MONDO:1060191	AR	Definitive 2025-08-27	no dismech entry

Mechanism modules · computed from kb/

bbsome_trafficking via Bardet-Biedl syndrome

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