Childhood onset hereditary spastic paraplegia
Gene: WASHC5
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
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
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
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
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.
victoria: Mainly pure HSP. Some rare ataxia and reduced vibration. On current HSP panel and Sheffields HSP panelCreated: 28 Apr 2019, 4:16 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Spastic paraplegia 8, autosomal dominant
Adult onset typicallyCreated: 25 Feb 2019, 11:17 a.m.
Tag Q1_23_demote_red was removed from gene: WASHC5. Tag Q1_23_expert_review was removed from gene: WASHC5.
Source Expert Review Red was added to WASHC5. Rating Changed from Green List (high evidence) to Red List (low evidence)
Publications for gene: WASHC5 were set to 17160902
Tag Q1_23_expert_review tag was added to gene: WASHC5.
Tag Q1_23_demote_red tag was added to gene: WASHC5.
Phenotypes for gene: WASHC5 were changed from Spastic paraplegia 8, autosomal dominant, 603563 to Spastic paraplegia 8, autosomal dominant, OMIM:603563
Source Yorkshire and North East GLH was added to WASHC5.
Source NHS GMS was added to WASHC5.
Source London North GLH was added to WASHC5.
Added phenotypes Spastic paraplegia 8, autosomal dominant, 603563 for gene: WASHC5
Arianna Tucci: Onset at birth
Publications for gene: WASHC5 were set to Valdmanis et al. (2007)
Phenotypes for gene: WASHC5 were changed from Spastic paraplegia 8, autosomal dominant to Spastic paraplegia 8, autosomal dominant, 603563
gene: WASHC5 was added gene: WASHC5 was added to Hereditary spastic paraplegia - childhood onset. Sources: Radboud University Medical Center, Nijmegen,UKGTN,Expert list,Expert Review Green,Illumina TruGenome Clinical Sequencing Services Mode of inheritance for gene: WASHC5 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: WASHC5 were set to Valdmanis et al. (2007) Phenotypes for gene: WASHC5 were set to Spastic paraplegia 8, autosomal dominant