Genomics England
GMS Panels
Panels
Genes and Entities

WDR45B

WD repeat domain 45B
OMIM: 609226
PanelMode of inheritanceDetails
4 panels
Green
in Childhood onset hereditary spastic paraplegia
R-numbers: R61
Signed-off version 6.4
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Neurodevelopmental disorder with spastic quadriplegia and brain abnormalities with or without seizures, OMIM:617977
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 4.15
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
AUTOSOMAL RECESSIVE MENTAL RETARDATION
Green
in Early onset or syndromic epilepsy
Component of the following Super Panels:
  • - Paediatric disorders
  • - Unexplained death in infancy and sudden unexplained death in childhood
R-numbers: R59
Signed-off version 6.9
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Neurodevelopmental disorder with spastic quadriplegia and brain abnormalities with or without seizures, OMIM:617977
Green
in Intellectual disability
Component of the following Super Panels:
  • - Childhood onset leukodystrophy
  • - Hypotonic infant
  • - Paediatric disorders
R-numbers: R29
Signed-off version 7.51
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Neurodevelopmental disorder with spastic quadriplegia and brain abnormalities with or without seizures, OMIM:617977