Rare multisystem ciliopathy disorders
Gene: IFT74Comment on list classification: Promoted from Red to Green. 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.Created: 7 Jan 2021, 10:44 a.m. | Last Modified: 7 Jan 2021, 10:44 a.m.
Panel Version: 1.131
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
Publications for gene: IFT74 were set to 27486776
Gene: ift74 has been classified as Green List (High Evidence).
Promoted to version 1 by Alice Gardham on 26th January 2017
This gene has been classified as Red List (Low Evidence).
Phenotypes for IFT74 were set to ?Bardet-Biedl syndrome 20, 617119
Publications for IFT74 were set to 27486776
Mode of inheritance for IFT74 was changed to BIALLELIC, autosomal or pseudoautosomal
IFT74 was added to Rare multisystem ciliopathy disorderspanel. Sources: Other
IFT74 was created by ellenmcdonagh