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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

1 review

Chris Buxton (North Bristol NHS Trust)

Red List (low evidence)

Low evidence, one report
Created: 27 Nov 2018, 9:41 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Abnormal gait; Nonambulatory; Absent deep tendon reflexes; Pes equinovarus; Corpus callosum & cerebellar hypoplasia, colpocephaly; Severe sensory/motor polyneuropathy

Publications

Created: 27 Nov 2018, 9:41 a.m.

Panel version: 1.71

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Expert list
OMIM
610009
Clinvar variants
Variants in ARSI
Penetrance
Complete
Publications
  • Novarino et al. (2014)
Panels with this gene

History Filter Activity

9 Mar 2016, Gel status: 1

Gene classified by Genomics England curator

emma baple (Genomics England Curator)

This gene has been classified as Red List (Low Evidence).

20 Jul 2015, Gel status: 0

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Model of inheritance for gene ARSI was changed to BIALLELIC, autosomal or pseudoautosomal

20 Jul 2015, Gel status: 0

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Model of inheritance for gene ARSI was changed to BIALLELIC, autosomal or pseudoautosomal

20 Jul 2015, Gel status: 0

Added New Source

Ellen McDonagh (Genomics England Curator)

ARSI was added to Hereditary spastic paraplegiapanel. Sources: Expert list