Gene
WASHC5
WASH complex subunit 5
- HGNC 28984(opens in a new tab)
- Ensembl gene ENSG00000164961(opens in a new tab)
- NCBI Gene 9897(opens in a new tab)
Summary
- Cytogenetic location
- 8q24.13
- Coordinates
- Chromosome 8: 125,024,260–125,091,792 (GRCh38)
- Exons
- 29 exons across 67.5 kb
- Protein
- 1,159 amino acids
- Inheritance
- Autosomal dominant
- Previous symbols
- SPG8, KIAA0196
- MANE Select transcript
- ENST00000318410.12NM_014846.4
- Locus type
- gene with protein product
- Very high
- Confident
- Low
- Very low
Reference genomeGRCh38hg38
Positions on gene and variant pages follow this choice, in this browser.
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Hereditary Spastic Paraplegia
- Hereditary Spastic Paraplegia 8Autosomal dominant
Any hereditary spastic paraplegia in which the cause of the disease is a mutation in the WASHC5 gene.
- ClinGen rates the link moderate
- 1 GenCC submitter rates it definitive or strong
- Hereditary Spastic Paraplegia (All Types)
One of 66 genes linked to it
Umbrella term covering all hereditary spastic paraplegias, including SPG4 (SPAST), the most common dominant form, and SPG5A, SPG6, SPG10, SPG18, SPG30 and SPG31.
- ClinGen rates the link moderate
- 1 GenCC submitter rates it definitive or strong
Inheritance
- Autosomal dominant
- One changed copy, from either parent, is enough. A parent who has one passes it on to each child with a one-in-two chance.
How WASHC5 is laid out
- Coding sequence
- Untranslated region
- Intron
- Direction of transcription
- Known disease-causing sites
- Stretches short reads find hard
Exons of the gene's MANE Select transcript (release v1.5), from NCBI and EMBL-EBI, on the GRCh38 reference genome.
Chromosome bands from UCSC's GRCh38 ideogram (2022-10-29).
Nearby genes from Ensembl release 116, on GRCh38.
Exons make up 4.1 kb of the gene's 67.5 kb; 3,480 of those bases code for the protein.
How a genome test reads WASHC5
40
positions in WASHC5 where ClinVar classes a change as pathogenic or likely pathogenic
None of them falls in a region short reads find hard.
A whole genome covers all 67.5 kb of WASHC5, introns included, not only the 4.1 kb of exons.
Traits linked to WASHC5
The Human Phenotype Ontology lists these as features of the rare conditions WASHC5 can cause. Each trait's page lists the other genes linked to it.
Abnormality of the nervous system
- Babinski sign
- Impaired vibration sensation in the lower limbs
- Overactive lower leg reflex
- Abnormal gait
- Abnormal speech pattern
- Degeneration of the lateral corticospinal tracts
- Global developmental delay
- Increased reflexes
Show 12 more traits
- Intellectual disability
- Upper limb hyperreflexia
- Absent/small cerebellum
- Limb ataxia
- Spinal cord lesion
- Too much cerebrospinal fluid in the brain
- Uncoordinated limb movement
- Ventriculomegaly
- Abnormality of neuronal migration
- Clonus
- Abnormal cerebrospinal fluid morphology
- Abnormal lower-limb motor evoked potentials
Abnormality of the cardiovascular system
- Abnormal mitral valve morphology
- Abnormal tricuspid valve morphology
- An opening in the wall separating the top two chambers of the heart
- Hole in center of heart
- Hole in heart wall separating two lower heart chambers
- Narrowing of aortic valve
- Narrowing of pulmonic valve
- Tetralogy of Fallot
Show 2 more traits
External links
Gene records
Transcript
Protein
Where this comes from
- HGNC: the gene's symbol, name, other symbols and location.
- MANE Select v1.5, from NCBI and EMBL-EBI: the transcript, its exons and coding sequence.
- GenCC and ClinGen, released 2026-10-16: which conditions the gene is linked to, and how strongly.
- The ACMG secondary findings list, SF v3.2.
- ClinVar and the GIAB stratifications: known disease-causing sites, and the regions short reads find hard.
- The Human Phenotype Ontology, release 2026-09-01: the traits linked to the gene. Find out more at hpo.jax.org.
- Data release 2026.10.16-c6eea6bf.
Cite this page
Dante Labs. (n.d.). WASHC5 gene: WASH complex subunit 5. Retrieved 17 October 2026, from https://dantelabs.com/genes/washc5
Dante Labs. WASHC5 gene: WASH complex subunit 5 [Internet]. [cited 17 October 2026]. Available from: https://dantelabs.com/genes/washc5
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