Retinal disorders
Gene: IFT74The rating of this gene has been updated following NHS Genomic Medicine Service approval.Created: 8 Mar 2022, 10:06 a.m. | Last Modified: 8 Mar 2022, 10:06 a.m.
Panel Version: 2.243
Comment on list classification: New gene added by Zornitza Stark. This gene is associated with a relevant phenotype in OMIM but not in Gene2Phenotype. 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, 10:40 a.m. | Last Modified: 7 Jan 2021, 10:40 a.m.
Panel Version: 2.78
Two families reported with BBS, supportive zebrafish model.
Sources: Expert listCreated: 11 Oct 2020, 11:28 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Bardet-Biedl syndrome 20, MIM# 617119
Publications
Variants in this GENE are reported as part of current diagnostic practice
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)
Gene: ift74 has been classified as Amber List (Moderate Evidence).
Tag for-review tag was added to gene: IFT74.
Phenotypes for gene: IFT74 were changed from Bardet-Biedl syndrome 20, MIM# 617119 to ?Bardet-Biedl syndrome 20, OMIM:617119
gene: IFT74 was added gene: IFT74 was added to Retinal disorders. Sources: Expert list Mode of inheritance for gene: IFT74 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: IFT74 were set to 27486776; 32144365 Phenotypes for gene: IFT74 were set to Bardet-Biedl syndrome 20, MIM# 617119 Review for gene: IFT74 was set to GREEN gene: IFT74 was marked as current diagnostic