WASHC5

WASH complex subunit 5
OMIM: 610657
PanelMode of inheritanceDetails
4 panels
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 8.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
WASHC5-associated intellectual disability, congenital cardiac malformation and Dandy-Walker malformation, OMIM:220210
R-numbers: R21, R412
Signed-off version 8.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Ritscher-Schinzel syndrome 1, OMIM:220210
Component of the following Super Panels:
  • - Adult-onset neurological disorders
Signed-off version 6.13
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Spastic paraplegia 8, autosomal dominant, OMIM:603563
Green
in Hydrocephalus
R-numbers: R86
Signed-off version 5.14
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Ritscher-Schinzel syndrome 1, OMIM:220210