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  2. Hereditary Spastic Paraplegia - paediatric
  3. ARSI
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Hereditary Spastic Paraplegia - paediatric

Gene: ARSI

Red List (low evidence)
ARSI (arylsulfatase family member I)
EnsemblGeneIds (GRCh38): ENSG00000183876
EnsemblGeneIds (GRCh37): ENSG00000183876
OMIM: 610009, Gene2Phenotype
ARSI is in 1 panel

1 review

Bryony Thompson (Royal Melbourne Hospital)

Red List (low evidence)

Single family reported.
Created: 17 Apr 2020, 6:53 a.m. | Last Modified: 17 Apr 2020, 6:53 a.m.
Panel Version: 0.9

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Complex spastic paraplegia

Publications

Created: 17 Apr 2020, 6:53 a.m.
Last Modified: 17 Apr 2020, 6:53 a.m.
Panel version: 0.9

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Royal Melbourne Hospital
Phenotypes
  • Childhood onset spastic paraplegia
OMIM
610009
Clinvar variants
Variants in ARSI
Penetrance
None
Publications
Panels with this gene

History Filter Activity

18 Apr 2020, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

31 Dec 2019, Gel status: 1

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

Bryony Thompson (Royal Melbourne Hospital)

gene: ARSI was added gene: ARSI was added to Hereditary Spastic Paraplegia - paediatric_RMH. Sources: Expert Review Red,Royal Melbourne Hospital Mode of inheritance for gene: ARSI was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ARSI were set to 24482476 Phenotypes for gene: ARSI were set to Childhood onset spastic paraplegia