Retinal disordersGene: CEP250
Cone-rod dystrophy and hearing loss-2 (CRDHL2) is characterized by retinal dystrophy, with photophobia and progressive reduction in visual acuity, associated with sensorineural hearing loss. Three unrelated families reported.
Created: 10 Oct 2020, 6:55 a.m. | Last Modified: 10 Oct 2020, 6:55 a.m.
Panel Version: 2.17
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Cone-rod dystrophy and hearing loss 2, MIM# 618358
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 evidence to support a gene-disease association. This gene should be made Green at the next review.
Created: 6 Jan 2021, 2:06 p.m. | Last Modified: 6 Jan 2021, 2:06 p.m.
Panel Version: 2.58
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
Tag for-review was removed from gene: CEP250.
Source Expert Review Green was added to CEP250. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Tag for-review tag was added to gene: CEP250.
Mode of inheritance for gene: CEP250 was changed from to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CEP250 were changed from to Cone-rod dystrophy and hearing loss 2, OMIM:618358, MONDO:0020780
Publications for gene: CEP250 were set to
gene: CEP250 was added gene: CEP250 was added to Retinal disorders. Sources: Expert Review Amber,RetNet,NHS GMS Mode of inheritance for gene: CEP250 was set to