Genomics England
GMS Panels
Panels
Genes and Entities

WDR34

WD repeat domain 34
OMIM: 613363
PanelMode of inheritanceDetails
4 panels
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 4.3
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
SHORT-RIB POLYDACTYLY SYNDROME TYPE III, SEVERE ASPHYXIATING THORACIC DYSPLASIA
Green
in Fetal anomalies
R-numbers: R21, R412
Signed-off version 4.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
SHORT-RIB POLYDACTYLY SYNDROME TYPE III, SEVERE ASPHYXIATING THORACIC DYSPLASIA
Green
in Skeletal ciliopathies
Component of the following Super Panels:
  • - Paediatric disorders
  • - Rare multisystem ciliopathy Super panel
Signed-off version 4.3
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Short-rib thoracic dysplasia 11 with or without polydactyly, Jeune syndrome, Short-rib thoracic dysplasia 11 with or without polydactyly, 615633
Green
in Skeletal dysplasia
Component of the following Super Panels:
  • - Paediatric disorders
R-numbers: R104
Signed-off version 5.3
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Short-rib thoracic dysplasia 11 with or without polydactyly, 615633