WDR34

WD repeat domain 34
OMIM: 613363, Gene2Phenotype

12 panels

Panel Reviews Mode of inheritance Details
12 panels
Green WDR34 in Thoracic dystrophies

Level 3: Skeletal dysplasias
Level 2: Skeletal disorders
Version 1.19

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 4.16
Latest signed off version: v4.0 (22 Mar 2023)

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 1.28

    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 4.52
    Latest signed off version: v4.0 (22 Mar 2023)

    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 3.136
    Latest signed off version: v3.0 (22 Mar 2023)

    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 3.79
    Latest signed off version: v3.1 (22 Mar 2023)

    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 4.106
    Latest signed off version: v4.0 (22 Mar 2023)

    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 - microarray and sequencing

    Level 3: Neurodevelopmental disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 5.474
    Latest signed off version: v5.0 (22 Mar 2023)

    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 1.169

    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 3.21
    Latest signed off version: v3.1 (22 Mar 2023)

    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 3.71
    Latest signed off version: v3.0 (22 Mar 2023)

    review Not set
    Sources
    • Expert Review Red
    • London North GLH
    Tags
    • new-gene-name
    Green WDR34 in Severe Paediatric Disorders


    Version 1.182

    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