Neurological ciliopathies
Gene: IFT74
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
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: LiteratureCreated: 8 Jul 2021, 8:09 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Joubert syndrome
Publications
Tag Q2_23_promote_green was removed from gene: IFT74.
Source Expert Review Green was added to IFT74. Source NHS GMS was added to IFT74. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Tag Q2_23_promote_green tag was added to gene: IFT74.
Gene: ift74 has been classified as Amber List (Moderate Evidence).
Phenotypes for gene: IFT74 were changed from Joubert syndrome to Joubert syndrome 40, OMIM:619582; Joubert syndrome 40, MONDO:0030462
gene: IFT74 was added gene: IFT74 was added to Neurological ciliopathies. Sources: Literature Mode of inheritance for gene: IFT74 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: IFT74 were set to 33531668 Phenotypes for gene: IFT74 were set to Joubert syndrome Review for gene: IFT74 was set to GREEN