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Retinal disorders

Gene: ARSG

Amber List (moderate evidence)

ARSG (arylsulfatase G)
EnsemblGeneIds (GRCh38): ENSG00000141337
EnsemblGeneIds (GRCh37): ENSG00000141337
OMIM: 610008, Gene2Phenotype
ARSG is in 4 panels

3 reviews

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

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

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

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • NHS GMS
  • RetNet
Phenotypes
  • Usher syndrome, type IV, OMIM:618144
Tags
Q2_22_rating Q2_22_NHS_review
OMIM
610008
Clinvar variants
Variants in ARSG
Penetrance
None
Publications
Panels with this gene

History Filter Activity

24 May 2022, Gel status: 2

Entity classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

Gene: arsg has been classified as Amber List (Moderate Evidence).

24 May 2022, Gel status: 2

Added Tag, Added Tag

Sarah Leigh (Genomics England Curator)

Tag Q2_22_rating tag was added to gene: ARSG. Tag Q2_22_NHS_review tag was added to gene: ARSG.

24 May 2022, Gel status: 2

Set publications

Sarah Leigh (Genomics England Curator)

Publications for gene: ARSG were set to

24 May 2022, Gel status: 2

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for gene: ARSG were changed from to Usher syndrome, type IV, OMIM:618144

24 May 2022, Gel status: 2

Set mode of inheritance

Sarah Leigh (Genomics England Curator)

Mode of inheritance for gene: ARSG was changed from to BIALLELIC, autosomal or pseudoautosomal

27 Dec 2019, Gel status: 2

Created, Added New Source, Set mode of inheritance

Ivone Leong (Genomics England Curator)

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