Genomics England
GMS Panels
Panels
Genes and Entities

WDR83OS

WD repeat domain 83 opposite strand
PanelMode of inheritanceDetails
1 panel
Green
in Intellectual disability
Component of the following Super Panels:
  • - Childhood onset leukodystrophy
  • - Hypotonic infant
  • - Paediatric disorders
R-numbers: R29
Signed-off version 8.134
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Neurodevelopmental disorder with variable familial hypercholanemia, OMIM:621016