Genomics England
GMS Panels
Panels
Genes and Entities

WIPI2

WD repeat domain, phosphoinositide interacting 2
OMIM: 609225
PanelMode of inheritanceDetails
2 panels
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 7.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
WIPI2-related neurodevelopmental disorder with white matter loss and hypoplasia of vermis and corpus callosum, OMIM:618453.0, MONDO:0032759
Green
in Intellectual disability
Component of the following Super Panels:
  • - Childhood onset leukodystrophy
  • - Hypotonic infant
  • - Paediatric disorders
R-numbers: R29
Signed-off version 10.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Intellectual developmental disorder with short stature and variable skeletal anomalies, OMIM:618453