WDR60

WD repeat domain 60
OMIM: 615462, Gene2Phenotype

12 panels

Panel Reviews Mode of inheritance Details
12 panels
Green WDR60 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 8 with or without polydactyly, 615503
  • Jeune Asphyxiating Thoracic Dystrophy
Tags
  • new-gene-name
Green WDR60 in Limb disorders


Version 4.21
Latest signed off version: v4.0 (22 Mar 2023)

Component of the following Super Panels:

  • Paediatric disorders
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Victorian Clinical Genetics Services
    • Radboud University Medical Center, Nijmegen
    • Expert Review Green
    • London South East RGC GSTT
    • Viapath
    Phenotypes
    • Short-rib thoracic dysplasia 8 with or without polydactyly 615503
    • Polydactyly
    Tags
    • new-gene-name
    Green WDR60 in Skeletal dysplasia

    Level 3: Skeletal dysplasias
    Level 2: Skeletal disorders
    Version 4.63
    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 8 with or without polydactyly 615503
    Tags
    • new-gene-name
    Green WDR60 in Unexplained young onset end-stage renal disease


    Version 3.41
    Latest signed off version: v3.0 (22 Mar 2023)

    Component of the following Super Panels:

  • Renal superpanel - broad
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • NHS GMS
    Phenotypes
    • Short-rib thoracic dysplasia 8 with or without polydactyly, 615503
    • SHORT-RIB POLYDACTYLY
    • Short-rib thoracic dysplasia 8 with or without polydactyly
    • Jeune syndrome
    Tags
    • new-gene-name
    Green WDR60 in Fetal anomalies


    Version 3.164
    Latest signed off version: v3.0 (22 Mar 2023)

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • PAGE DD-Gene2Phenotype
    • Expert Review Green
    Phenotypes
    • JEUNE SYNDROMES
    • SHORT-RIB POLYDACTYLY
    Tags
    • new-gene-name
    Green WDR60 in DDG2P


    Version 3.88
    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
    • JEUNE SYNDROMES
    • SHORT-RIB POLYDACTYLY
    Tags
    • new-gene-name
    Amber WDR60 in Clefting

    Level 3: Dysmorphic disorders
    Level 2: Dysmorphic and congenital abnormality syndromes
    Version 4.110
    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 8 WITH OR WITHOUT POLYDACTYLY
    • SRTD8
    Tags
    • new-gene-name
    Red WDR60 in Intellectual disability - microarray and sequencing

    Level 3: Neurodevelopmental disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 5.544
    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
    Phenotypes
    • JEUNE SYNDROMES
    Tags
    • new-gene-name
    Green WDR60 in Rare multisystem ciliopathy disorders

    Level 3: Congenital malformations caused by ciliopathies
    Level 2: Ciliopathies
    Version 1.171

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Other
    • Orphanet
    • UKGTN
    • Radboud University Medical Center, Nijmegen
    • Expert list
    Phenotypes
    • Short-rib thoracic dysplasia 8 with or without polydactyly, 615503
    • Jeune syndrome
    • Short-rib thoracic dysplasia 8 with or without polydactyly
    • SHORT-RIB POLYDACTYLY
    Tags
    • new-gene-name
    Green WDR60 in Renal ciliopathies

    Level 3: Congenital malformations caused by ciliopathies
    Level 2: Ciliopathies
    Version 3.5
    Latest signed off version: v3.0 (22 Mar 2023)

    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
    • Expert Review Green
    • Orphanet
    • Radboud University Medical Center, Nijmegen
    • UKGTN
    • Expert list
    • Other
    • Expert Review Green
    Phenotypes
    • Short-rib thoracic dysplasia 8 with or without polydactyly, 615503
    • Short-rib thoracic dysplasia 8 with or without polydactyly
    • Jeune syndrome
    • SHORT-RIB POLYDACTYLY
    Tags
    • new-gene-name
    Green WDR60 in Skeletal ciliopathies

    Level 3: Congenital malformations caused by ciliopathies
    Level 2: Ciliopathies
    Version 3.22
    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
    • Expert Review Green
    Phenotypes
    • Short-rib thoracic dysplasia 8 with or without polydactyly, 615503
    • Short-rib thoracic dysplasia 8 with or without polydactyly
    • Jeune syndrome
    • SHORT-RIB POLYDACTYLY
    Tags
    • new-gene-name
    Green WDR60 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 8 with or without polydactyly, 615503
    Tags
    • new-gene-name