1. Panels
  2. Hereditary Spastic Paraplegia - adult onset
  3. WASHC5
STRs in panel
Prev Next
Regions in panel
Prev Next

Hereditary Spastic Paraplegia - adult onset

Gene: WASHC5

Green List (high evidence)
WASHC5 (WASH complex subunit 5)
EnsemblGeneIds (GRCh38): ENSG00000164961
EnsemblGeneIds (GRCh37): ENSG00000164961
OMIM: 610657, Gene2Phenotype
WASHC5 is in 8 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Spastic paraplegia-8 is an autosomal dominant neurologic disorder characterized by adult onset of progressive lower limb spasticity and hyperreflexia resulting in difficulty walking. Some patients may become wheelchair-bound after several decades. Other features may include upper limb spasticity, impaired vibration sense in the distal lower limbs, and urinary urgency or incontinence.

Established gene-disease association.
Created: 16 Mar 2021, 9:24 a.m. | Last Modified: 16 Mar 2021, 9:24 a.m.
Panel Version: 0.114

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Spastic paraplegia 8, autosomal dominant, MIM# 603563

Publications

Created: 16 Mar 2021, 9:24 a.m.
Last Modified: 16 Mar 2021, 9:24 a.m.
Panel version: 0.114

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Spastic paraplegia 8, autosomal dominant, 603563
  • MONDO:0011339
OMIM
610657
Clinvar variants
Variants in WASHC5
Penetrance
None
Publications
Panels with this gene

History Filter Activity

16 Mar 2021, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: washc5 has been classified as Green List (High Evidence).

16 Mar 2021, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: WASHC5 were changed from Spastic paraplegia 8, autosomal dominant, 603563 to Spastic paraplegia 8, autosomal dominant, 603563; MONDO:0011339

16 Mar 2021, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: WASHC5 were set to

16 Mar 2021, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: WASHC5 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

31 Dec 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Bryony Thompson (Royal Melbourne Hospital)

gene: WASHC5 was added gene: WASHC5 was added to Hereditary Spastic Paraplegia - adult onset_RMH. Sources: Expert Review Green,Royal Melbourne Hospital Mode of inheritance for gene: WASHC5 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: WASHC5 were set to Spastic paraplegia 8, autosomal dominant, 603563