WASHC5

WASH complex subunit 5

3 disorders 2 causative 1 untyped 8q24.13 gene with protein product

HGNC:28984 Monarch NCBI Gene 9897 ENSG00000164961 UniProt Q12768 OMIM 610657

Previous symbols: SPG8, KIAA0196.

In the knowledge base · computed from kb/ at build time

Disorders

Relationship is the entry's genetic[].relationship_type. untyped means the entry has a genetic record for the gene but does not type it; its free-text association is shown instead.

Disorder	Relationship	Where the gene appears
Hereditary Spastic Paraplegia	causative	mechanism: Endosomal Membrane Trafficking and Sorting Defect (SPG6/SPG8/SPG80) subtype: SPG8 scoped to subtype: SPG8
Ritscher-Schinzel Syndrome 1	causative
Ritscher-Schinzel Syndrome	untyped CAUSATIVE	mechanism: Commander/WASH complex deficiency subtype: RSS1

ClinGen gene–disease validity · snapshot 2026-10-03 · matched to entries by MONDO

An entry matches when ClinGen's MONDO disease is the entry's own disease term, a subtype term, or an exact-match mapping. An amber status marks an entry ClinGen supports the gene for (Definitive, Strong or Moderate) whose own record does not type it. A Limited, Disputed or Refuted tier on such an entry is not a gap.

ClinGen disease	MOI	Classification	dismech entry
Ritscher-Schinzel syndrome 1 MONDO:0009073	AR	Limited 2025-04-04	Ritscher-Schinzel Syndrome untyped Ritscher-Schinzel Syndrome 1 causative
hereditary spastic paraplegia 8 MONDO:0011339	AD	Moderate 2024-09-30	Hereditary Spastic Paraplegia causative

Mechanism modules · computed from kb/

corticospinal_tract_axonopathy via Hereditary Spastic Paraplegia

Identity from HGNC (snapshot 2026-10-01). Page layers are described in the gene pages documentation.