WDR34

WD repeat domain 34
OMIM: 613363, Gene2Phenotype

14 panels

Panel Reviews Mode of inheritance Details
14 panels

Green WDR34 in Skeletal Dysplasia_Fetal


Level 2: Skeletal disorders
Version 0.223

review Unknown
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
  • Victorian Clinical Genetics Services
  • Expert Review Green
  • Melbourne Genomics Health Alliance Perinatal Autopsy Flagship

Green WDR34 in Ciliopathies


Level 2: Dysmorphic and congenital abnormality syndromes
Version 1.54

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Short-rib thoracic dysplasia 11 with or without polydactyly, MIM# 615633
  • Retinitis pigmentosa

Green WDR34 in Mendeliome


Version 1.1891

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Short-rib thoracic dysplasia 11 with or without polydactyly, MIM# 615633
  • Retinitis pigmentosa

Green WDR34 in Polydactyly


Level 2: Dysmorphic and congenital abnormality syndromes
Version 0.276

Component of the following Super Panels:

  • Limb and Digital Malformations SuperPanel
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Victorian Clinical Genetics Services
    • Expert Review Green

    Green WDR34 in Short Rib Polydactyly_Jeune Asphyxiating Thoracic Dystrophy_Skeletal Ciliopathy


    Level 2: Skeletal disorders
    Version 1.15

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Victorian Clinical Genetics Services
    Phenotypes
    • Short-rib thoracic dysplasia 11 with or without polydactyly, MIM# 615633

    Red WDR34 in Renal Ciliopathies and Nephronophthisis


    Level 2: Renal and urinary tract disorders
    Version 1.22

    Component of the following Super Panels:

  • Kidneyome_SuperPanel
  • Renal Cystic Disease_SuperPanel
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert Review Red
    • KidGen_CilioNephronop v38.1.0
    • Victorian Clinical Genetics Services
    Phenotypes
    • Short-rib thoracic dysplasia 11 with or without polydactyly, OMIM #615633

    Red WDR34 in Intellectual disability syndromic and non-syndromic


    Level 2: Neurology and neurodevelopmental disorders
    Version 0.6063

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • Expert list
    Phenotypes
    • Short-rib thoracic dysplasia 11 with or without polydactyly
    • OMIM #615633

    Green WDR34 in Skeletal dysplasia

    Level 3: Skeletal dysplasias
    Level 2: Skeletal disorders
    Version 0.285

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert Review Green
    • Radboud University Medical Center, Nijmegen
    • NHS GMS
    • Victorian Clinical Genetics Services
    Phenotypes
    • Short-rib thoracic dysplasia 11 with or without polydactyly, 615633

    Red WDR34 in Retinitis pigmentosa_Autosomal Recessive/X-linked


    Level 2: Ophthalmological disorders
    Version 0.147

    Component of the following Super Panels:

  • Retinal Disorders Superpanel
  • Retinitis Pigmentosa Superpanel
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • Literature
    Phenotypes
    • Retinitis pigmentosa

    Green WDR34 in Mackenzie's Mission_Reproductive Carrier Screening


    Level 2: Screening
    Version 0.109

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Mackenzie's Mission
    Phenotypes
    • Short-rib thoracic dysplasia 11 with or without polydactyly, 615633 (3)
    Tags
    • new gene name

    Amber WDR34 in Clefting disorders

    Level 3: Dysmorphic disorders
    Level 2: Dysmorphic and congenital abnormality syndromes
    Version 0.252

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    Phenotypes
    • SRTD11
    • SHORT-RIB THORACIC DYSPLASIA 11 WITH OR WITHOUT POLYDACTYLY

    Green WDR34 in Fetal anomalies


    Version 1.255

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Genomics England PanelApp
    • Victorian Clinical Genetics Services
    • Victorian Clinical Genetics Services
    • Melbourne Genomics Health Alliance Perinatal Autopsy Flagship
    Phenotypes
    • Short-rib thoracic dysplasia 11 with or without polydactyly, MIM# 615633

    Green WDR34 in Prepair 1000+


    Level 2: Screening
    Version 1.9

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Mackenzie's Mission
    Phenotypes
    • Short-rib thoracic dysplasia 11 with or without polydactyly, 615633 (3)

    Green WDR34 in Prepair 500+


    Level 2: Screening
    Version 1.1

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Mackenzie's Mission
    Phenotypes
    • Short-rib thoracic dysplasia 11 with or without polydactyly, 615633 (3)