Genomics England
GMS Panels
Panels
Genes and Entities

WDR83OS

WD repeat domain 83 opposite strand
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
neurodevelopmental disorder with variable familial hypercholanemia, MONDO:0975877, WDR83OS-related neurodevelopmental disorder with hypercholanemia
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
Neurodevelopmental disorder with variable familial hypercholanemia, OMIM:621016