WDR34

WD repeat domain 34
OMIM: 613363, Gene2Phenotype

12 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 12 panels
Green WDR34 in Thoracic dystrophies Level 3: Skeletal dysplasias Level 2: Skeletal disorders Version 1.20	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Radboud University Medical Center, Nijmegen Phenotypes Short-rib thoracic dysplasia 11 with or without polydactyly, 615633 Jeune Asphyxiating Thoracic Dystrophy Tags new-gene-name
No list WDR34 in Limb disorders Version 5.2 Latest signed off version: v5.0 (1 May 2024) Component of the following Super Panels: Paediatric disorders	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Removed Victorian Clinical Genetics Services Phenotypes Short-rib thoracic dysplasia 11 with or without polydactyly 615633 severe asphyxiating thoracic dysplasia Tags new-gene-name curated_removed
No list WDR34 in Ductal plate malformation Version 1.29	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Removed Radboud University Medical Center, Nijmegen UKGTN Phenotypes Short-rib thoracic dysplasia 11 with or without polydactyly (615633) Tags new-gene-name curated_removed
Green WDR34 in Skeletal dysplasia Level 3: Skeletal dysplasias Level 2: Skeletal disorders Version 5.1 Latest signed off version: v5.0 (1 May 2024) Component of the following Super Panels: Paediatric disorders	review	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS Expert Review Green Radboud University Medical Center, Nijmegen Phenotypes Short-rib thoracic dysplasia 11 with or without polydactyly, 615633 Tags new-gene-name
Green WDR34 in Fetal anomalies Version 4.1 Latest signed off version: v4.0 (1 May 2024)	review	BIALLELIC, autosomal or pseudoautosomal	Sources PAGE DD-Gene2Phenotype Expert Review Green Phenotypes SHORT-RIB POLYDACTYLY SYNDROME TYPE III SEVERE ASPHYXIATING THORACIC DYSPLASIA Tags new-gene-name
Green WDR34 in DDG2P Version 4.3 Latest signed off version: v4.0 (1 May 2024) Component of the following Super Panels: Paediatric disorders	review	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes SHORT-RIB POLYDACTYLY SYNDROME TYPE III SEVERE ASPHYXIATING THORACIC DYSPLASIA Tags new-gene-name
Amber WDR34 in Clefting Level 3: Dysmorphic disorders Level 2: Dysmorphic and congenital abnormality syndromes Version 5.3 Latest signed off version: v5.0 (1 May 2024) Component of the following Super Panels: Paediatric disorders	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Phenotypes SHORT-RIB THORACIC DYSPLASIA 11 WITH OR WITHOUT POLYDACTYLY SRTD11 Tags new-gene-name
Red WDR34 in Intellectual disability Level 3: Neurodevelopmental disorders Level 2: Neurology and neurodevelopmental disorders Version 6.7 Latest signed off version: v6.0 (1 May 2024) Component of the following Super Panels: Childhood onset leukodystrophy Hypotonic infant Paediatric disorders	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red BRIDGE study SPEED NEURO Tier1 Gene Phenotypes Short-rib thoracic dysplasia 11 with or without polydactyly, 615633 Tags new-gene-name
Green WDR34 in Rare multisystem ciliopathy disorders Level 3: Congenital malformations caused by ciliopathies Level 2: Ciliopathies Version 1.172	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Other Orphanet UKGTN Radboud University Medical Center, Nijmegen Expert list Phenotypes Short-rib thoracic dysplasia 11 with or without polydactyly, 615633 Jeune syndrome Short-rib thoracic dysplasia 11 with or without polydactyly Tags new-gene-name
Green WDR34 in Skeletal ciliopathies Level 3: Congenital malformations caused by ciliopathies Level 2: Ciliopathies Version 4.1 Latest signed off version: v4.0 (1 May 2024) Component of the following Super Panels: Paediatric disorders Rare multisystem ciliopathy Super panel	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Orphanet Radboud University Medical Center, Nijmegen UKGTN Expert list Other Phenotypes Short-rib thoracic dysplasia 11 with or without polydactyly Jeune syndrome Short-rib thoracic dysplasia 11 with or without polydactyly, 615633 Tags new-gene-name
Red WDR34 in Childhood onset dystonia, chorea or related movement disorder Version 4.1 Latest signed off version: v4.0 (1 May 2024)	review	Not set	Sources Expert Review Red London North GLH Tags new-gene-name
Green WDR34 in Severe Paediatric Disorders Version 1.184	review	BIALLELIC, autosomal or pseudoautosomal	Sources Next Generation Children Project Expert Review Green Expert list Phenotypes Short-rib thoracic dysplasia 11 with or without polydactyly, 615633 Tags new-gene-name