Retinal disorders
Gene: ARSG
The rating of this gene has been updated to Green following NHS Genomic Medicine Service approval.Created: 30 Jan 2023, 2:08 p.m. | Last Modified: 30 Jan 2023, 2:08 p.m.
Panel Version: 3.26
Associated with relevant phenotype in OMIM and as limited Gen2Phen gene. At least six variants have been reported in at least five unrelated cases of Usher syndrome, type IV (OMIM:618144).Created: 24 May 2022, 3:20 p.m. | Last Modified: 24 May 2022, 3:20 p.m.
Panel Version: 2.263
Comment on list classification: There is enough evidence for this gene to be rated GREEN at the next major review.Created: 24 May 2022, 3:16 p.m. | Last Modified: 24 May 2022, 3:16 p.m.
Panel Version: 2.263
Multiple reports in the literature of various ARSG mutations causing retinal dystrophy and late-onset hearing loss (referred to as Usher syndrome type 4)Created: 20 Jan 2022, 12:21 p.m. | Last Modified: 20 Jan 2022, 12:22 p.m.
Panel Version: 2.242
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Retinal dystrophy; late-onset sensorineural hearing loss
Publications
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 Q2_22_rating was removed from gene: ARSG. Tag Q2_22_NHS_review was removed from gene: ARSG.
Source Expert Review Green was added to ARSG. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Gene: arsg has been classified as Amber List (Moderate Evidence).
Tag Q2_22_rating tag was added to gene: ARSG. Tag Q2_22_NHS_review tag was added to gene: ARSG.
Publications for gene: ARSG were set to
Phenotypes for gene: ARSG were changed from to Usher syndrome, type IV, OMIM:618144
Mode of inheritance for gene: ARSG was changed from to BIALLELIC, autosomal or pseudoautosomal
gene: ARSG was added gene: ARSG was added to Retinal disorders. Sources: Expert Review Amber,RetNet,NHS GMS Mode of inheritance for gene: ARSG was set to