Lysosomal storage disorder
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: 1 Feb 2023, 11:23 a.m. | Last Modified: 1 Feb 2023, 11:23 a.m.

Panel Version: 2.3

Created: 1 Feb 2023, 11:23 a.m.
Last Modified: 1 Feb 2023, 11:23 a.m.
Panel version: 2.3

Zornitza Stark (Australian Genomics)

Green List (high evidence)

Two more unrelated cases reported from Portugal, with supporting functional assays demonstrating loss of enzyme function. Now 8 cases with 5 different variants (4 missense and 1 frameshift), and an animal model.
Created: 5 Mar 2021, 6:16 a.m. | Last Modified: 5 Mar 2021, 6:16 a.m.

Panel Version: 1.11

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Usher syndrome, type IV MIM#618144

Publications

33300174

Variants in this GENE are reported as part of current diagnostic practice

Created: 5 Mar 2021, 6:16 a.m.
Last Modified: 5 Mar 2021, 6:16 a.m.
Panel version: 1.11

Sarah Leigh (Genomics England Curator)

Green List (high evidence)

Associated with relevant phenotype in OMIM and as possible Gen2Phen gene. At least five variants reported in at least four unrelated cases, together with supportive functional studies and animal models.
Created: 16 Mar 2021, 12:32 p.m. | Last Modified: 15 Mar 2022, 3:07 p.m.

Panel Version: 1.78

Comment on list classification: There is enough evidence for this gene to be rated GREEN at the next major review.
Created: 16 Mar 2021, 12:19 p.m. | Last Modified: 16 Mar 2021, 12:19 p.m.

Panel Version: 1.14

Comment on phenotypes: Including of neuronal ceroid lipofuscinosis
Created: 1 Jul 2019, 1:21 p.m. | Last Modified: 1 Jul 2019, 1:21 p.m.

Panel Version: 0.6

Publications

Created: 4 Apr 2019, 12:56 p.m.
Last Modified: 15 Mar 2022, 3:07 p.m.
Panel version: 1.15

Emma Ashton (Great Ormond Street Hospital)

I don't know

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Created: 13 Feb 2019, 1:33 p.m.

Panel version: 0.3

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

NHS GMS
Expert Review Green
North London GLH

Phenotypes

Usher syndrome, type IV OMIM:618144
usher syndrome, type 4 MONDO:0029141

OMIM

610008

Clinvar variants

Variants in ARSG

Penetrance

None

Publications

Panels with this gene

History Filter Activity

1 Feb 2023, Gel status: 3

Removed Tag

Achchuthan Shanmugasundram (Genomics England Curator)

Tag Q2_21_rating was removed from gene: ARSG.

1 Feb 2023, Gel status: 3

Added New Source, Added New Source, Status Update

Achchuthan Shanmugasundram (Genomics England Curator)

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

16 Mar 2021, Gel status: 2