1. Genes and Genomic Entities
  2. WDR60

WDR60

WD repeat domain 60
OMIM: 615462, Gene2Phenotype

10 panels

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


Level 2: Musculoskeletal
Version 7.25
Latest signed off version: v7.0 (30 Apr 2025)

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 2: Musculoskeletal
    Version 8.40
    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 8 with or without polydactyly 615503
    Tags
    • new-gene-name
    Green WDR60 in Fetal anomalies


    Level 2: Fetal (including NIPD)
    Version 6.185
    Latest signed off version: v6.0 (30 Apr 2025)

    		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 6.447
    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
    • JEUNE SYNDROMES
    • SHORT-RIB POLYDACTYLY
    Tags
    • new-gene-name
    Amber WDR60 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 8 WITH OR WITHOUT POLYDACTYLY
    • SRTD8
    Tags
    • new-gene-name
    Red WDR60 in Intellectual disability


    Level 2: Developmental disorders
    Version 9.370
    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
    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 1.180

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Other
    • Orphanet
    • UKGTN
    • Radboud University Medical Center, Nijmegen
    • Expert list
    Phenotypes
    • Short-rib thoracic dysplasia 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 2: Renal
    Version 4.14
    Latest signed off version: v4.0 (30 Apr 2025)

    Component of the following Super Panels:

  • Cystic renal disease
  • Paediatric disorders
  • Rare multisystem ciliopathy Super panel
  • Unexplained young onset end-stage renal disease

    		•  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 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
    • 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