Renal ciliopathies
Gene: IFT172The rating of this gene has been updated following NHS Genomic Medicine Service approval.Created: 8 Mar 2022, 10:44 a.m. | Last Modified: 8 Mar 2022, 10:44 a.m.
Panel Version: 1.51
Comment on list classification: Changed rating to Amber so that Green genes on this panel reflect the NHS signed-off version. This will be reviewed at the next GMS panel update.Created: 19 Oct 2020, 2:31 p.m. | Last Modified: 19 Oct 2020, 2:31 p.m.
Panel Version: 1.30
Comment on list classification: A number of publications identify relationship of variants in IFT172 and phenotypes associated with Bardet-Biedl syndrome and Jeune and Mainzer-Saldino Syndromes, all are ciliopathy diseases. The range of phenotypes can result in serve skeletal and multiple affected organs but also includes a reported case of non-syndromic retinal dystrophy.
Sufficient numbers of unrelated individuals reported to have kidney dysfunction to include IFT172 as Green on the panel.Created: 30 Mar 2020, 1:28 p.m. | Last Modified: 30 Mar 2020, 1:28 p.m.
Panel Version: 1.9
Nephronophthisis is a recognised feature of this ciliopathy.
Sources: Expert listCreated: 3 Jan 2020, 4:07 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Short-rib thoracic dysplasia 10 with or without polydactyly, MIM# 615630
Phenotypes for gene: IFT172 were changed from Short-rib thoracic dysplasia 10 with or without polydactyly, MIM# 615630 to Short-rib thoracic dysplasia 10 with or without polydactyly, OMIM:615630
Tag for-review was removed from gene: IFT172.
Source Expert Review Green was added to IFT172. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Gene: ift172 has been classified as Amber List (Moderate Evidence).
Tag for-review tag was added to gene: IFT172.
Gene: ift172 has been classified as Green List (High Evidence).
Publications for gene: IFT172 were set to
gene: IFT172 was added gene: IFT172 was added to Renal ciliopathies. Sources: Expert list Mode of inheritance for gene: IFT172 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: IFT172 were set to Short-rib thoracic dysplasia 10 with or without polydactyly, MIM# 615630 Review for gene: IFT172 was set to GREEN