Retinal disorders
Gene: ARSG

ARSG (arylsulfatase G)
EnsemblGeneIds (GRCh38): ENSG00000141337
EnsemblGeneIds (GRCh37): ENSG00000141337
OMIM: 610008, Gene2Phenotype
ARSG is in 5 panels

4 reviews

Achchuthan Shanmugasundram (Genomics England Curator)

Green List (high evidence)

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

Created: 30 Jan 2023, 2:08 p.m.
Last Modified: 30 Jan 2023, 2:08 p.m.
Panel version: 3.26

Sarah Leigh (Genomics England Curator)

Green List (high evidence)

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

Created: 24 May 2022, 3:16 p.m.
Last Modified: 24 May 2022, 3:16 p.m.
Panel version: 2.263

Hannah Knight (Moorfields Eye Hospital)

Green List (high evidence)

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

Created: 20 Jan 2022, 12:21 p.m.
Last Modified: 20 Jan 2022, 12:22 p.m.
Panel version: 2.242

Ivone Leong (Genomics England Curator)

I don't know

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

Created: 27 Dec 2019, 9:10 a.m.
Last Modified: 27 Dec 2019, 9:10 a.m.
Panel version: 2.5

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Green
NHS GMS
RetNet

Phenotypes

Usher syndrome, type IV, OMIM:618144

OMIM

610008

Clinvar variants

Variants in ARSG

Penetrance

None

Publications

Panels with this gene

History Filter Activity

30 Jan 2023, Gel status: 3

Removed Tag, Removed Tag

Achchuthan Shanmugasundram (Genomics England Curator)

Tag Q2_22_rating was removed from gene: ARSG. Tag Q2_22_NHS_review was removed from gene: ARSG.

30 Jan 2023, Gel status: 3

Added New Source, Status Update

Achchuthan Shanmugasundram (Genomics England Curator)

Source Expert Review Green was added to ARSG. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)

24 May 2022, Gel status: 2