Adult onset hereditary spastic paraplegia
Gene: WASHC5

WASHC5 (WASH complex subunit 5)
EnsemblGeneIds (GRCh38): ENSG00000164961
EnsemblGeneIds (GRCh37): ENSG00000164961
OMIM: 610657, Gene2Phenotype
WASHC5 is in 11 panels

3 reviews

Nick Beauchamp (Sheffield Diagnostic Genetics Service)

Green List (high evidence)

Adult onset.
Created: 10 May 2019, 10:37 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Publications

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

Created: 10 May 2019, 10:37 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)

victoria: Mainly pure HSP. Some rare ataxia and reduced vibration. On current HSP panel + Sheffields HSP panel
Created: 25 Apr 2019, 1:22 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Phenotypes
Spastic paraplegia 8, autosomal dominant, 603563

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

Panel version: 0.5

Details

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Sources

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

Phenotypes

Spastic paraplegia 8, autosomal dominant, OMIM:603563

OMIM

610657

Clinvar variants

Variants in WASHC5

Penetrance

None

Publications

Panels with this gene

History Filter Activity

2 Aug 2021, Gel status: 3

Set Phenotypes

Ivone Leong (Genomics England Curator)

Phenotypes for gene: WASHC5 were changed from Spastic paraplegia 8, autosomal dominant, 603563 to Spastic paraplegia 8, autosomal dominant, OMIM:603563

13 May 2019, Gel status: 4