WDR34

WD repeat domain 34
OMIM: 613363, Gene2Phenotype

11 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 11 panels
Green WDR34 in Thoracic dystrophies Level 3: Skeletal dysplasias Level 2: Skeletal disorders Version 1.24	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 Level 2: Musculoskeletal Version 7.22 Latest signed off version: v7.0 (30 Apr 2025) 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 1.31	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 2: Musculoskeletal Version 8.38 Latest signed off version: v8.0 (30 Apr 2025) 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 Level 2: Fetal (including NIPD) Version 6.169 Latest signed off version: v6.0 (30 Apr 2025)	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 6.438 Latest signed off version: v6.0 (30 Apr 2025) 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 2: Musculoskeletal Version 6.23 Latest signed off version: v6.5 (30 Apr 2025) 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 2: Developmental disorders Version 9.330 Latest signed off version: v9.0 (30 Apr 2025) 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 1.180	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 2: Musculoskeletal Version 6.7 Latest signed off version: v6.0 (30 Apr 2025) 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 Level 2: Neurology Version 7.17 Latest signed off version: v7.0 (30 Apr 2025)	review	Not set	Sources Expert Review Red London North GLH Tags new-gene-name