WASHC5 Chromosome 8
WASH complex subunit 5
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What This Gene Does
This gene encodes a 134 kDa protein named strumpellin that is predicted to have multiple transmembrane domains and a spectrin-repeat-containing domain. This ubiquitously expressed gene has its highest expression in skeletal muscle. The protein is named for Strumpell disease; a form of hereditary spastic paraplegia (HSP). Spastic paraplegias are a diverse group of disorders in which the autosomal dominant forms are characterized by progressive, lower extremity spasticity caused by axonal degeneration in the terminal portions of the longest descending and ascending corticospinal tracts. More than 30 loci (SPG1-33) have been implicated in hereditary spastic paraplegia diseases. [provided by RefSeq, Aug 2009]
Gene Info
Gene Group
WASH complex
Locus Type
gene with protein product
Location
8q24.13
Ensembl
ENSG00000164961
Associated Conditions (13)
WASHC5-related disorder
Hereditary spastic paraplegia 8
Ritscher-Schinzel syndrome
Hereditary spastic paraplegia
Ritscher-Schinzel syndrome 1
Inborn genetic diseases
Ovarian serous cystadenocarcinoma
Familial cancer of breast
Lymphoma
Incidental Discovery
7 conditions
Lower limb spasticity
Lung cancer
Key Variants
RS1296153120
Conflicting classifications of pathogenicity
WASHC5-related disorder, Hereditary spastic paraplegia 8, Ritscher-Schinzel syndrome
Health Risk
RS141234822
Conflicting classifications of pathogenicity
Hereditary spastic paraplegia 8, Ritscher-Schinzel syndrome, Hereditary spastic paraplegia
Health Risk
RS1435894101
Conflicting classifications of pathogenicity
Hereditary spastic paraplegia 8, Ritscher-Schinzel syndrome, Hereditary spastic paraplegia 8
Health Risk
RS146623998
Conflicting classifications of pathogenicity
Hereditary spastic paraplegia 8, Ritscher-Schinzel syndrome, Hereditary spastic paraplegia 8
Health Risk
RS147434450
Conflicting classifications of pathogenicity
Hereditary spastic paraplegia 8, Ritscher-Schinzel syndrome, Hereditary spastic paraplegia 8
Health Risk
RS148562491
Conflicting classifications of pathogenicity
Ritscher-Schinzel syndrome 1, Ritscher-Schinzel syndrome 1
Health Risk
RS150430170
Conflicting classifications of pathogenicity
Hereditary spastic paraplegia 8, Ritscher-Schinzel syndrome, Inborn genetic diseases
Health Risk
RS151298198
Conflicting classifications of pathogenicity
Hereditary spastic paraplegia 8, Ritscher-Schinzel syndrome, Inborn genetic diseases
Health Risk
RS1563633906
Conflicting classifications of pathogenicity
Hereditary spastic paraplegia 8, Ritscher-Schinzel syndrome, Hereditary spastic paraplegia 8
Health Risk
RS200283018
Conflicting classifications of pathogenicity
Hereditary spastic paraplegia, Hereditary spastic paraplegia 8, Ritscher-Schinzel syndrome
Health Risk
RS200456170
Conflicting classifications of pathogenicity
Hereditary spastic paraplegia, Ritscher-Schinzel syndrome, Hereditary spastic paraplegia 8
Health Risk
RS200733182
Conflicting classifications of pathogenicity
Hereditary spastic paraplegia 8, Ritscher-Schinzel syndrome, Hereditary spastic paraplegia 8
Health Risk
All Variants (69)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1462319941 | Health Risk | Pathogenic | Hereditary spastic paraplegia 8, Ritscher-Schinzel syndrome, Hereditary spastic paraplegia 8 |
| RS1478543114 | Health Risk | Pathogenic | Inborn genetic diseases, Inborn genetic diseases |
| RS150749307 | Health Risk | Pathogenic | Hereditary spastic paraplegia 8, Ritscher-Schinzel syndrome, Hereditary spastic paraplegia 8 |
| RS1586390087 | Health Risk | Pathogenic | Inborn genetic diseases, Ritscher-Schinzel syndrome 1, Inborn genetic diseases |
| RS1815998956 | Health Risk | Pathogenic | Hereditary spastic paraplegia 8, Hereditary spastic paraplegia 8 |
| RS2130107479 | Health Risk | Pathogenic | Hereditary spastic paraplegia 8, Hereditary spastic paraplegia 8 |
| RS2537306012 | Health Risk | Pathogenic | Hereditary spastic paraplegia 8, Ritscher-Schinzel syndrome, Hereditary spastic paraplegia 8 |
| RS2537313187 | Health Risk | Pathogenic | Hereditary spastic paraplegia 8, Ritscher-Schinzel syndrome, Hereditary spastic paraplegia 8 |
| RS2537350339 | Health Risk | Pathogenic | Hereditary spastic paraplegia 8, Ritscher-Schinzel syndrome, Hereditary spastic paraplegia 8 |
| RS2537390996 | Health Risk | Pathogenic | Ritscher-Schinzel syndrome 1, Ritscher-Schinzel syndrome 1 |
| RS377540152 | Health Risk | Pathogenic | Hereditary spastic paraplegia 8, Ritscher-Schinzel syndrome, Hereditary spastic paraplegia 8 |
| RS765926045 | Health Risk | Pathogenic | Hereditary spastic paraplegia 8, Ritscher-Schinzel syndrome, Hereditary spastic paraplegia 8 |
| RS80338865 | Health Risk | Pathogenic | Hereditary spastic paraplegia 8, Hereditary spastic paraplegia 8 |
| RS80338866 | Health Risk | Pathogenic | Hereditary spastic paraplegia 8, Ritscher-Schinzel syndrome, Hereditary spastic paraplegia 8 |
| RS1060502725 | Health Risk | Pathogenic/Likely pathogenic | Hereditary spastic paraplegia 8, Ritscher-Schinzel syndrome, Hereditary spastic paraplegia 8 |
| RS1554593899 | Health Risk | Pathogenic/Likely pathogenic | Hereditary spastic paraplegia 8, Ritscher-Schinzel syndrome, Hereditary spastic paraplegia 8 |
| RS1554593901 | Health Risk | Pathogenic/Likely pathogenic | Hereditary spastic paraplegia 8, Ritscher-Schinzel syndrome, Ritscher-Schinzel syndrome 1 |
| RS397515564 | Health Risk | Pathogenic/Likely pathogenic | Hereditary spastic paraplegia 8, Hereditary spastic paraplegia 8, Ritscher-Schinzel syndrome |
| RS80338867 | Health Risk | Pathogenic/Likely pathogenic | Hereditary spastic paraplegia 8, Hereditary spastic paraplegia, Ritscher-Schinzel syndrome |