Retinal disorders

Gene: IFT172

Green List (high evidence)

Three unrelated families reported in PMID 25168386, together with functional data. Note gene is associated with multi-system ciliopathies as well.

Created: 11 Oct 2020, 11:12 p.m. | Last Modified: 11 Oct 2020, 11:12 p.m.

Panel Version: 2.17

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Retinitis pigmentosa 71, MIM# 616394

Publications

• 25168386
• 29659833

I don't know

The 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

This gene is associated with a relevant phenotype in OMIM and Gene2Phenotype. There is enough data to support a gene-disease association. This gene should be made Green at the next review (tagged with "for-review").

This gene is also Green on the following panels:
- Ophthalmological ciliopathies (Version 1.13)
- Skeletal ciliopathies (Version 1.4)
- Rare multisystem ciliopathy disorders (Version 1.130)

Created: 7 Jan 2021, 10:30 a.m. | Last Modified: 7 Jan 2021, 10:30 a.m.

Panel Version: 2.74

Submitted on behalf of the GMS Eye specialist group. These genes are also from RetNet. There is currently not enough evidence to rate these genes Green, therefore they have been given an Amber rating.

Created: 27 Dec 2019, 9:10 a.m. | Last Modified: 27 Dec 2019, 9:10 a.m.

Panel Version: 2.5