Ophthalmological ciliopathies
Gene: IFT74The rating of this gene has been updated following NHS Genomic Medicine Service approval.Created: 8 Mar 2022, 9:57 a.m. | Last Modified: 8 Mar 2022, 9:57 a.m.
Panel Version: 1.27
Comment on list classification: Promoted from Red to Amber. This gene is associated with a relevant phenotype in OMIM but not in Gene2Phenotype. PMID: 32144365 is the second case for this gene. Taken together there are 2 cases and an animal model. There is enough evidence to support a gene-disease association. This gene has been given an Amber rating and should be made Green at the next review.Created: 7 Jan 2021, 10:46 a.m. | Last Modified: 7 Jan 2021, 10:46 a.m.
Panel Version: 1.14
Only reported in one patient although supported by zebrafish modelCreated: 25 Jan 2017, 1:11 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
?Bardet-Biedl syndrome 20 617119
Publications
Tag for-review was removed from gene: IFT74.
Source Expert Review Green was added to IFT74. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Publications for gene: IFT74 were set to 27486776
Gene: ift74 has been classified as Amber List (Moderate Evidence).
Tag for-review tag was added to gene: IFT74.
gene: IFT74 was added gene: IFT74 was added to Ophthalmological ciliopathies. Sources: Other,Expert Review Red Mode of inheritance for gene: IFT74 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: IFT74 were set to 27486776 Phenotypes for gene: IFT74 were set to ?Bardet-Biedl syndrome 20, 617119