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  2. Adult onset hereditary spastic paraplegia
  3. ARSI
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Adult onset hereditary spastic paraplegia

Gene: ARSI

Red List (low evidence)
ARSI (arylsulfatase family member I)
EnsemblGeneIds (GRCh38): ENSG00000183876
EnsemblGeneIds (GRCh37): ENSG00000183876
OMIM: 610009, Gene2Phenotype
ARSI is in 4 panels

3 reviews

Nick Beauchamp (Sheffield Diagnostic Genetics Service)

Red List (low evidence)

Appears to be childhood onset only. Novarino et al 2014 reported one kindred. No other reports.
Created: 10 May 2019, 12:20 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Publications

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

Created: 10 May 2019, 12:20 p.m.

Panel version: 0.53

Louise Daugherty (Genomics England Curator)

I don't know

Review and rating from Chris Buxton (North Bristol NHS Trust), submitted by Natalie Forrester (SWGLH - Bristol Genetics) on behalf of South West GLH for GMS Neurology specialist test group.
Created: 27 Apr 2019, 4:30 p.m.
Created: 27 Apr 2019, 4:30 p.m.

Panel version: 0.42

Chris Buxton (North Bristol NHS Trust)

Red List (low evidence)

No omim disorder. 1 report only Novarino (2014)
Created: 27 Apr 2019, 4:17 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Publications

  • Novarino et al. (2014)

Created: 27 Apr 2019, 4:17 p.m.

Panel version: 0.29

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Yorkshire and North East GLH
  • South West GLH
OMIM
610009
Clinvar variants
Variants in ARSI
Penetrance
None
Publications
Panels with this gene

History Filter Activity

13 May 2019, Gel status: 1

Set publications

Louise Daugherty (Genomics England Curator)

Publications for gene: ARSI were set to Novarino et al. (2014)

13 May 2019, Gel status: 1

Set mode of inheritance

Louise Daugherty (Genomics England Curator)

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

13 May 2019, Gel status: 1

Added New Source

Louise Daugherty (Genomics England Curator)

Source NHS GMS was added to ARSI.

13 May 2019, Gel status: 1

Added New Source

Louise Daugherty (Genomics England Curator)

Source Yorkshire and North East GLH was added to ARSI.

27 Apr 2019, Gel status: 1

Set publications

Louise Daugherty (Genomics England Curator)

Publications for gene ARSI were changed from to Novarino et al. (2014)

27 Apr 2019, Gel status: 1

Created, Added New Source, Set mode of inheritance

Louise Daugherty (Genomics England Curator)

gene: ARSI was added gene: ARSI was added to Hereditary spastic paraplegia - adult onset. Sources: South West GLH Mode of inheritance for gene: ARSI was set to