Adult onset hereditary spastic paraplegia
Gene: SPG21

SPG21 (SPG21, maspardin)
EnsemblGeneIds (GRCh38): ENSG00000090487
EnsemblGeneIds (GRCh37): ENSG00000090487
OMIM: 608181, Gene2Phenotype
SPG21 is in 8 panels

3 reviews

Nick Beauchamp (Sheffield Diagnostic Genetics Service)

Green List (high evidence)

Adult onset, three families reported. No additional patients identified using Sheffield panel.
Created: 10 May 2019, 10:06 a.m.

Adult onset, three families reported. No additional patients identified using Sheffield panel.
Created: 10 May 2019, 10:04 a.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, 10:04 a.m.

Panel version: 0.53

Louise Daugherty (Genomics England Curator)

I don't know

Review and rating submitted byJames Polke (Neurogenetics Laboratory,Institute of Neurology, London), unless specified in the review comment, on behalf of London North GLH for GMS Neurology specialist test group.
Created: 9 May 2019, 4:50 p.m.

Created: 25 Apr 2019, 1:37 p.m.

Panel version: 0.53

James Polke (Neurogenetics Laboratory, Institute of Neurology, London)

Green List (high evidence)

2 unlread cases published, one in affected members in an amish pedigree with complicated SP and in 2 japanese brothers. In sheffields HSP panel
Created: 25 Apr 2019, 1:22 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Spastic Paraplegia, autosomal recessive; Mast syndrome, 248900

Created: 25 Apr 2019, 1:22 p.m.

Panel version: 0.5

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Yorkshire and North East GLH
Expert Review Green
NHS GMS
London North GLH

Phenotypes

Mast syndrome, 248900
Spastic Paraplegia, autosomal recessive

OMIM

608181

Clinvar variants

Variants in SPG21

Penetrance

None

Publications

Panels with this gene