Genes in panel

STRs in panel

Prev Next

Regions in panel

Prev Next

2p21 region (includes PREPL and SLC3A1) Loss
ISCA-37440-Loss 2

Likely inborn error of metabolism
Gene: ARSG

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

3 reviews

Sadaf Naz (University of the Punjab)

Green List (high evidence)

This gene should also be included in the Monogenic hearing loss panel. OMIM 610008.
Created: 2 May 2025, 6:56 a.m. | Last Modified: 2 May 2025, 6:56 a.m.

Panel Version: 8.2

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Usher syndrome, type IV

Publications

Created: 2 May 2025, 6:56 a.m.
Last Modified: 2 May 2025, 6:56 a.m.
Panel version: 8.2

Achchuthan Shanmugasundram (Genomics England Curator)

Green List (high evidence)

The rating of this gene has been updated to green and the mode of inheritance updated to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.
Created: 26 Sep 2024, 3:37 p.m. | Last Modified: 26 Sep 2024, 3:37 p.m.

Panel Version: 6.10

Comment on list classification: This gene should be rated green as it is green on 'Lysosomal storage disorder' panel (https://panelapp.genomicsengland.co.uk/panels/529/gene/ARSG/)
Created: 20 Jun 2024, 3:03 p.m. | Last Modified: 20 Jun 2024, 3:03 p.m.

Panel Version: 5.17

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Usher syndrome, type IV, OMIM:618144

Created: 20 Jun 2024, 2:48 p.m.
Last Modified: 20 Jun 2024, 2:48 p.m.
Panel version: 6.10

Sarah Leigh (Genomics England Curator)

Red List (low evidence)

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

Panel Version: 1.112

Candidate gene for neuronal ceroid lipofuscinosis as reported in dogs and mice models (PubMed: 20679209, 22689975, 25452429, 26975023) and in 5 affected members of 3 consanguineous Yemenite Jewish families (PMID 29300381).
Created: 23 Jan 2017, 11:58 a.m. | Last Modified: 1 Jul 2019, 1:51 p.m.

Panel Version: 1.114

Mode of inheritance
Unknown

Phenotypes
neuronal ceroid lipofuscinosis

Publications

Created: 23 Jan 2017, 11:58 a.m.
Last Modified: 1 Jul 2019, 1:51 p.m.
Panel version: Imported from Undiagnosed metabolic disorders panel version 0.248

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Green
NHS GMS

Phenotypes

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

OMIM

Clinvar variants

Variants in ARSG

Penetrance

None

Publications

Panels with this gene

History Filter Activity

26 Sep 2024, Gel status: 3

Removed Tag

Achchuthan Shanmugasundram (Genomics England Curator)

Tag Q2_24_promote_green was removed from gene: ARSG.

26 Sep 2024, Gel status: 3

Added New Source, Added New Source, Status Update

Achchuthan Shanmugasundram (Genomics England Curator)

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

20 Jun 2024, Gel status: 2

Entity classified by Genomics England curator

Achchuthan Shanmugasundram (Genomics England Curator)

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

20 Jun 2024, Gel status: 2

Entity classified by Genomics England curator

Achchuthan Shanmugasundram (Genomics England Curator)

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

20 Jun 2024, Gel status: 2

Entity classified by Genomics England curator

Achchuthan Shanmugasundram (Genomics England Curator)

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

20 Jun 2024, Gel status: 2

Entity classified by Genomics England curator

Achchuthan Shanmugasundram (Genomics England Curator)

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

20 Jun 2024, Gel status: 2

Entity classified by Genomics England curator

Achchuthan Shanmugasundram (Genomics England Curator)

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

20 Jun 2024, Gel status: 1

Set Phenotypes

Achchuthan Shanmugasundram (Genomics England Curator)

Phenotypes for gene: ARSG were changed from Usher syndrome, type IV OMIM:618144; usher syndrome, type 4 MONDO:0029141 to Usher syndrome, type IV, OMIM:618144; usher syndrome, type 4, MONDO:0029141

20 Jun 2024, Gel status: 1

Set Phenotypes

Achchuthan Shanmugasundram (Genomics England Curator)

Phenotypes for gene: ARSG were changed from Usher syndrome, type IV OMIM:618144; usher syndrome, type 4 MONDO:0029141 to Usher syndrome, type IV OMIM:618144; usher syndrome, type 4 MONDO:0029141

20 Jun 2024, Gel status: 1

Set Phenotypes

Achchuthan Shanmugasundram (Genomics England Curator)

Phenotypes for gene: ARSG were changed from Usher syndrome, type IV, OMIM:618144; usher syndrome, type 4, MONDO:0029141 to Usher syndrome, type IV OMIM:618144; usher syndrome, type 4 MONDO:0029141

20 Jun 2024, Gel status: 1

Set Phenotypes

Achchuthan Shanmugasundram (Genomics England Curator)

Phenotypes for gene: ARSG were changed from Usher syndrome, type IV, OMIM:618144; usher syndrome, type 4, MONDO:0029141 to Usher syndrome, type IV, OMIM:618144; usher syndrome, type 4, MONDO:0029141

20 Jun 2024, Gel status: 1

Set Phenotypes

Achchuthan Shanmugasundram (Genomics England Curator)

Phenotypes for gene: ARSG were changed from neuronal ceroid lipofuscinosis to Usher syndrome, type IV, OMIM:618144; usher syndrome, type 4, MONDO:0029141

20 Jun 2024, Gel status: 1

Set publications

Achchuthan Shanmugasundram (Genomics England Curator)

Publications for gene: ARSG were set to 26975023; 20679209; 25452429; 33300174

20 Jun 2024, Gel status: 1

Set mode of inheritance

Achchuthan Shanmugasundram (Genomics England Curator)

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

20 Jun 2024, Gel status: 1

Set mode of inheritance

Achchuthan Shanmugasundram (Genomics England Curator)

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

20 Jun 2024, Gel status: 1

Set publications

Achchuthan Shanmugasundram (Genomics England Curator)

Publications for gene: ARSG were set to 26975023; 20679209; 25452429; 33300174

20 Jun 2024, Gel status: 1

Set publications

Achchuthan Shanmugasundram (Genomics England Curator)

Publications for gene: ARSG were set to 26975023; 20679209; 25452429

20 Jun 2024, Gel status: 1

Set mode of inheritance

Achchuthan Shanmugasundram (Genomics England Curator)

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

20 Jun 2024, Gel status: 1

Set mode of inheritance

Achchuthan Shanmugasundram (Genomics England Curator)

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

20 Jun 2024, Gel status: 1

Set mode of inheritance

Achchuthan Shanmugasundram (Genomics England Curator)

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

20 Jun 2024, Gel status: 1

Set mode of inheritance

Achchuthan Shanmugasundram (Genomics England Curator)

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

20 Jun 2024, Gel status: 1

Set mode of inheritance

Achchuthan Shanmugasundram (Genomics England Curator)

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

20 Jun 2024, Gel status: 1

Added Tag

Achchuthan Shanmugasundram (Genomics England Curator)

Tag Q2_24_promote_green tag was added to gene: ARSG.

8 Jan 2019, Gel status: 1

Panel promoted to version 1.0

Ellen McDonagh (Genomics England Curator)

Sarah Leigh: Associated with phenotype in O

16 Dec 2018, Gel status: 1

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Ellen McDonagh (Genomics England Curator)

gene: ARSG was added gene: ARSG was added to Inborn errors of metabolism. Sources: Expert Review Red Mode of inheritance for gene: ARSG was set to Unknown Publications for gene: ARSG were set to 26975023; 20679209; 25452429 Phenotypes for gene: ARSG were set to neuronal ceroid lipofuscinosis