WDR19

WD repeat domain 19
OMIM: 608151, Gene2Phenotype

23 panels

Panel Reviews Mode of inheritance Details
23 panels
Green WDR19 in Thoracic dystrophies

Level 3: Skeletal dysplasias
Level 2: Skeletal disorders
Version 1.20

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Radboud University Medical Center, Nijmegen
  • Illumina TruGenome Clinical Sequencing Services
Phenotypes
  • Asphyxiating thoracic dystrophy 5, 614376
No list WDR19 in Limb disorders


Version 5.4
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
    • ?Cranioectodermal dysplasia 4 614378
    • ?Short-rib thoracic dysplasia 5 with or without polydactyly 614376
    Tags
    • curated_removed
    Red WDR19 in Ectodermal dysplasia


    Version 3.29
    Latest signed off version: v3.0 (22 Mar 2023)

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    Phenotypes
    • Cranioectodermal dysplasia 4, 614378
    • Cranioectodermal Dysplasia
    • Asphyxiating thoracic dystrophy 5, 614376
    • Nephronophthisis 13, 614377
    Red WDR19 in Ectodermal dysplasia without a known gene mutation

    Level 3: Ectodermal dysplasias
    Level 2: Dermatological disorders
    Version 1.28

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • Illumina TruGenome Clinical Sequencing Services
    • Radboud University Medical Center, Nijmegen
    Phenotypes
    • Asphyxiating thoracic dystrophy 5, 614376
    • Nephronophthisis 13, 614377
    • Cranioectodermal dysplasia 4, 614378
    • Cranioectodermal Dysplasia
    Green WDR19 in Tubulointerstitial kidney disease


    Version 3.3
    Latest signed off version: v3.0 (22 Mar 2023)

    Component of the following Super Panels:

  • Renal superpanel - broad
  • Renal superpanel - narrow
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • NHS GMS
    • Expert Review Green
    Phenotypes
    • Nephronopthisis 13 MIM 614377
    • ?Cranioectodermal dysplasia 4, MIM 614378
    • ?Short-rib thoracic dysplasia 5 with or without polydactyly, MIM 614376
    • Senior-Loken syndrome 8, MIM 616307
    Green WDR19 in Cystic kidney disease

    Level 3: Structural renal and urinary tract disease
    Level 2: Renal and urinary tract disorders
    Version 5.3
    Latest signed off version: v5.0 (1 May 2024)

    Component of the following Super Panels:

  • Cystic renal disease
  • Renal superpanel - broad
  • Renal superpanel - narrow
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert
    Phenotypes
    • Ciliopathy genes associated with cystic kidney disease
    • Nephronophthisis 13, Senior-Loken
    Red WDR19 in Unexplained kidney failure in young people

    Level 3: Disorders of function
    Level 2: Renal and urinary tract disorders
    Version 1.119

    Component of the following Super Panels:

  • Renal superpanel - broad
  • review Not set
    Sources
    • Expert Review Red
    • Expert
    Phenotypes
    • Ciliopathy genes associated with cystic kidney disease
    Red WDR19 in Primary ciliary disorders

    Level 3: Respiratory ciliopathies
    Level 2: Ciliopathies
    Version 1.42

    review Not set
    Sources
    • Emory Genetics Laboratory
    Phenotypes
    • ciliopathies
    Green WDR19 in Skeletal dysplasia

    Level 3: Skeletal dysplasias
    Level 2: Skeletal disorders
    Version 5.4
    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
    • Radboud University Medical Center, Nijmegen
    • Illumina TruGenome Clinical Sequencing Services
    • Emory Genetics Laboratory
    Phenotypes
    • Cranioectodermal dysplasia 4, 614378
    • Short-rib thoracic dysplasia 5 with or without polydactyly, 614376
    • Asphyxiating thoracic dystrophy 5, 614376
    • SRTD5
    Green WDR19 in Unexplained young onset end-stage renal disease


    Version 4.3
    Latest signed off version: v4.0 (1 May 2024)

    Component of the following Super Panels:

  • Renal superpanel - broad
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    Phenotypes
    • Nephronophthisis 13
    • Ciliopathy genes associated with cystic kidney disease
    • Senior-Loken
    Green WDR19 in Fetal anomalies


    Version 4.3
    Latest signed off version: v4.0 (1 May 2024)

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • PAGE DD-Gene2Phenotype
    • Expert Review Green
    Phenotypes
    • ASPHYXIATING THORACIC DYSTROPHY 5
    • CRANIOECTODERMAL DYSPLASIA 4
    Red WDR19 in Rare syndromic craniosynostosis or isolated multisuture synostosis

    Level 3: Craniosynostosis syndromes
    Level 2: Skeletal disorders
    Version 5.1
    Latest signed off version: v5.0 (1 May 2024)

    review Not set
    Sources
    • NHS GMS
    Phenotypes
    • Cranioectodermal dysplasia type 4 614378
    Green WDR19 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
    • CRANIOECTODERMAL DYSPLASIA 4 614378
    • ASPHYXIATING THORACIC DYSTROPHY 5 614376
    Amber WDR19 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 5 WITH OR WITHOUT POLYDACTYLY
    • SRTD5
    Red WDR19 in Intellectual disability

    Level 3: Neurodevelopmental disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 6.21
    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
    • Nephronophthisis 13, 614377
    • Cranioectodermal dysplasia 4, 614378
    • Short-rib thoracic dysplasia 5 with or without polydactyly, 614376
    Green WDR19 in Retinal disorders

    Level 3: Posterior segment abnormalities
    Level 2: Ophthalmological disorders
    Version 5.6
    Latest signed off version: v5.0 (1 May 2024)

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • NHS GMS
    • Expert Review Green
    Phenotypes
    • Genetic Retinal Degeneration Conditions
    Green WDR19 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
    • Illumina TruGenome Clinical Sequencing Services
    • Other
    • Orphanet
    • UKGTN
    • Emory Genetics Laboratory
    • Radboud University Medical Center, Nijmegen
    • Expert list
    Phenotypes
    • Nephronophthisis 13, 614377
    • Senior-Loken syndrome 8, 616307
    • ?Cranioectodermal dysplasia 4, 614378
    • ?Short-rib thoracic dysplasia 5 with or without polydactyly, 614376
    • Cranioectodermal dysplasia
    • Jeune syndrome
    • Nephronophthisis
    • Senior-Loken syndrome
    • ?Short-rib thoracic dysplasia 5 with or without polydactyly
    Red WDR19 in Groopman et al 2019 - Genes with diagnostic variants


    Version 0.8

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • Expert review red
    • Literature
    Phenotypes
    • Congenital or cystic renal disease
    • MIM 614377
    • Nephronophthisis 13
    Green WDR19 in Ophthalmological 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
    • Illumina TruGenome Clinical Sequencing Services
    • Expert Review Green
    • Orphanet
    • Radboud University Medical Center, Nijmegen
    • UKGTN
    • Expert list
    • Other
    • Emory Genetics Laboratory
    Phenotypes
    • Nephronophthisis 13, 614377
    • ?Short-rib thoracic dysplasia 5 with or without polydactyly
    • Senior-Loken syndrome 8, 616307
    • Cranioectodermal dysplasia
    • ?Short-rib thoracic dysplasia 5 with or without polydactyly, 614376
    • Jeune syndrome
    • Senior-Loken syndrome
    • ?Cranioectodermal dysplasia 4, 614378
    • Nephronophthisis
    Green WDR19 in Renal ciliopathies

    Level 3: Congenital malformations caused by ciliopathies
    Level 2: Ciliopathies
    Version 3.6
    Latest signed off version: v3.5 (1 May 2024)

    Component of the following Super Panels:

  • Cystic renal disease
  • Paediatric disorders
  • Rare multisystem ciliopathy Super panel
  • Renal superpanel - broad
  • Renal superpanel - narrow
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Illumina TruGenome Clinical Sequencing Services
    • Expert Review Green
    • Orphanet
    • Radboud University Medical Center, Nijmegen
    • UKGTN
    • Expert list
    • Other
    • Emory Genetics Laboratory
    Phenotypes
    • Nephronophthisis 13, 614377
    • ?Short-rib thoracic dysplasia 5 with or without polydactyly
    • Senior-Loken syndrome 8, 616307
    • Cranioectodermal dysplasia
    • ?Short-rib thoracic dysplasia 5 with or without polydactyly, 614376
    • Jeune syndrome
    • Senior-Loken syndrome
    • ?Cranioectodermal dysplasia 4, 614378
    • Nephronophthisis
    Green WDR19 in Skeletal ciliopathies

    Level 3: Congenital malformations caused by ciliopathies
    Level 2: Ciliopathies
    Version 4.3
    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
    • Illumina TruGenome Clinical Sequencing Services
    • Expert Review Green
    • Orphanet
    • Radboud University Medical Center, Nijmegen
    • UKGTN
    • Expert list
    • Other
    • Emory Genetics Laboratory
    Phenotypes
    • Nephronophthisis 13, 614377
    • ?Short-rib thoracic dysplasia 5 with or without polydactyly
    • Senior-Loken syndrome 8, 616307
    • Cranioectodermal dysplasia
    • ?Short-rib thoracic dysplasia 5 with or without polydactyly, 614376
    • Jeune syndrome
    • Senior-Loken syndrome
    • ?Cranioectodermal dysplasia 4, 614378
    • Nephronophthisis
    Red WDR19 in Childhood onset dystonia, chorea or related movement disorder


    Version 4.3
    Latest signed off version: v4.0 (1 May 2024)

    review Not set
    Sources
    • Expert Review Red
    • London North GLH
    Green WDR19 in Severe Paediatric Disorders


    Version 1.184

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Next Generation Children Project
    • Expert Review Green
    • Expert list
    Phenotypes
    • Senior-Loken syndrome 8, 616307
    • ?Cranioectodermal dysplasia 4, 614378
    • Nephronophthisis 13, 614377
    • ?Short-rib thoracic dysplasia 5 with or without polydactyly, 614376