Neurological ciliopathies

Gene: IFT74

Green List (high evidence)

The rating of this gene has been updated to Green and the mode of inheritance set to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.

Created: 10 Oct 2023, 3:10 p.m. | Last Modified: 10 Oct 2023, 3:10 p.m.

Panel Version: 3.12

Associated with Joubert syndrome 40 in OMIM (OMIM:619582) and as a definitive gene for IFT74-associated ciliopathy in Gen2Phen. Five IFT74 variants have been associated with OMIM:619582, in four unrelated Chinese families, supportive functional studies have been perfomed on patient fibroblasts and zebra fish IFT74 morphants (PMID: 33531668).

Created: 18 Apr 2023, 3:42 p.m. | Last Modified: 18 Apr 2023, 3:42 p.m.

Panel Version: 3.4

Comment on list classification: There is enough evidence for this gene to be rated GREEN at the next major review.

Created: 18 Apr 2023, 3:26 p.m. | Last Modified: 18 Apr 2023, 3:26 p.m.

Panel Version: 3.4

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Green List (high evidence)

Gene is associated with BBS. Note new publication:

PMID 33531668: Identified IFT74 as a JBTS-associated gene in 3 unrelated families through WES. All the affected individuals carried truncated variants and shared one missense variant (p.Q179E) found only in East Asians. The expression of the human p.Q179E-IFT74 variant displayed compromised rescue effects in zebrafish ift74 morphants. Attenuated ciliogenesis; altered distribution of IFT proteins and ciliary membrane proteins, including ARL13B, INPP5E, and GPR161; and disrupted hedgehog signaling were observed in patient fibroblasts with IFT74 variants.
Sources: Literature

Created: 8 Jul 2021, 8:09 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Joubert syndrome

Publications

• 33531668