1. Panels
  2. Test panel testing 2020-07-27
  3. ARSB

Test panel testing 2020-07-27

Gene: ARSB

Amber List (moderate evidence)
ARSB (arylsulfatase B)
EnsemblGeneIds (GRCh38): ENSG00000113273
EnsemblGeneIds (GRCh37): ENSG00000113273
OMIM: 611542, Gene2Phenotype
ARSB is in 15 panels

2 reviews

Reviewer Test (GenomicsEnglandTesting)

review
Created: 27 Jul 2020, 2:07 p.m. | Last Modified: 27 Jul 2020, 2:07 p.m.
Panel Version: 1.13
Created: 27 Jul 2020, 2:07 p.m.
Last Modified: 27 Jul 2020, 2:07 p.m.
Panel version: 1.13

Eleanor Williams (Genomics England Curator)

Red List (low evidence)

Test of Red review
Created: 27 Jul 2020, 12:09 p.m. | Last Modified: 27 Jul 2020, 12:09 p.m.
Panel Version: 1.6

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Phenotype 1

Publications

Mode of pathogenicity
Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype -please provide details in the comments

Created: 27 Jul 2020, 12:09 p.m.
Last Modified: 27 Jul 2020, 12:09 p.m.
Panel version: 1.6

History Filter Activity

27 Jul 2020, Gel status: 2

Entity classified by Genomics England curator

Eleanor Williams (Genomics England Curator)

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

27 Jul 2020, Gel status: 3

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

Eleanor Williams (Genomics England Curator)

gene: ARSB was added gene: ARSB was added to Test panel testing 2020-07-27. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: ARSB was set to Other Phenotypes for gene: ARSB were set to Mucopolysaccharidosis VI (MPS6) 253200