Childhood onset hereditary spastic paraplegia

Gene: WASHC5

Red List (low evidence)

The rating of this gene has been updated to Red following NHS Genomic Medicine Service approval.

Created: 10 Oct 2023, 5:14 p.m. | Last Modified: 10 Oct 2023, 5:14 p.m.

Panel Version: 4.20

Red List (low evidence)

As pointed out by previous reviewers (Zornitza Stark and Nick Beauchamp), Spastic paraplegia 8 (MIM #603563) is characterized by adult onset of progressive lower limb spasticity and hyperreflexia resulting in difficulty walking. All the cases reported in listed publications had adult-onset disorder.

Created: 27 Mar 2023, 3:22 p.m. | Last Modified: 27 Mar 2023, 3:22 p.m.

Panel Version: 4.1

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Spastic paraplegia 8, autosomal dominant, OMIM:603563

Publications

• 17160902
• 23455931
• 26572744
• 31814071
• 33662919

Red List (low evidence)

Adult onset.

Created: 20 Sep 2020, 7:37 a.m. | Last Modified: 20 Sep 2020, 7:37 a.m.

Panel Version: 2.15

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Spastic paraplegia 8, autosomal dominant, 603563

Green List (high evidence)

Adult onset.

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

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

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

I don't know

Rating and review submitted on behalf of James Polke (Neurogenetics Laboratory,Institute of Neurology, London), on behalf of London North GLH for GMS Neurology specialist test group.

Created: 9 May 2019, 4:54 p.m.

Green List (high evidence)

victoria: Mainly pure HSP. Some rare ataxia and reduced vibration. On current HSP panel and Sheffields HSP panel

Created: 28 Apr 2019, 4:16 p.m.

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

Phenotypes
Spastic paraplegia 8, autosomal dominant

I don't know

Adult onset typically

Created: 25 Feb 2019, 11:17 a.m.