Genomics England
GMS Panels
Panels
Genes and Entities

WASHC5

WASH complex subunit 5
OMIM: 610657
PanelMode of inheritanceDetails
4 panels
Green
in Adult onset hereditary spastic paraplegia
R-numbers: R60
Signed-off version 6.0
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Spastic paraplegia 8, autosomal dominant, OMIM:603563
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 6.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
WASHC5-associated intellectual disability, congenital cardiac malformation and Dandy-Walker malformation, OMIM:220210
Green
in Fetal anomalies
R-numbers: R21, R412
Signed-off version 6.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Ritscher-Schinzel syndrome 1, OMIM:220210
Green
in Hydrocephalus
R-numbers: R86
Signed-off version 5.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Ritscher-Schinzel syndrome 1, OMIM:220210