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  3. ARSG
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Usher Syndrome

Gene: ARSG

Green List (high evidence)
ARSG (arylsulfatase G)
EnsemblGeneIds (GRCh38): ENSG00000141337
EnsemblGeneIds (GRCh37): ENSG00000141337
OMIM: 610008, Gene2Phenotype
ARSG is in 2 panels

2 reviews

Bryony Thompson (Royal Melbourne Hospital)

Green List (high evidence)

Comment on list classification: 2 additional families reported, upgraded to green
Created: 22 Feb 2021, 6:58 a.m. | Last Modified: 22 Feb 2021, 6:58 a.m.
Panel Version: 1.1
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: 22 Feb 2021, 6:57 a.m. | Last Modified: 22 Feb 2021, 6:57 a.m.
Panel Version: 1.0

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Usher syndrome, type IV MIM#618144

Publications

Created: 22 Feb 2021, 6:57 a.m.
Last Modified: 22 Feb 2021, 6:57 a.m.
Panel version: 1.0

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Red List (low evidence)

Atypical late-onset RP/HL phenotype described in 5 individuals from three Yemenite Jewish families. Same homozygous missense variant identified in all, founder effect. Animal models associated with neuronal ceroid lipofuscinosis.
Created: 27 Feb 2020, 1:11 a.m. | Last Modified: 27 Feb 2020, 1:11 a.m.
Panel Version: 0.2

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Usher syndrome, type IV, MIM# 618144

Publications

Created: 27 Feb 2020, 1:11 a.m.
Last Modified: 27 Feb 2020, 1:11 a.m.
Panel version: 0.2

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Usher syndrome, type IV, 618144
OMIM
610008
Clinvar variants
Variants in ARSG
Penetrance
None
Publications
Panels with this gene

History Filter Activity

22 Feb 2021, Gel status: 3

Set publications

Bryony Thompson (Royal Melbourne Hospital)

Publications for gene: ARSG were set to 29300381; 20679209; 25452429; 26975023

22 Feb 2021, Gel status: 3

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: arsg has been classified as Green List (High Evidence).

27 Feb 2020, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: arsg has been classified as Red List (Low Evidence).

27 Feb 2020, Gel status: 1

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: ARSG were set to

27 Feb 2020, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: arsg has been classified as Red List (Low Evidence).

14 Jan 2020, Gel status: 3

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

Bryony Thompson (Royal Melbourne Hospital)

gene: ARSG was added gene: ARSG was added to Usher Syndrome_RMH. Sources: Royal Melbourne Hospital,Expert Review Green Mode of inheritance for gene: ARSG was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ARSG were set to Usher syndrome, type IV, 618144