1. Genes and Genomic Entities
  2. WDR62

WDR62

WD repeat domain 62
OMIM: 613583, Gene2Phenotype

7 panels

Panel Reviews Mode of inheritance Details
7 panels
Red WDR62 in Cerebral vascular malformations


Level 2: Neurology
Version 4.10
Latest signed off version: v4.0 (30 Apr 2025)

review Not set
Sources
  • Yorkshire and North East GLH
  • NHS GMS
  • Expert Review Red
  • UKGTN
Phenotypes
  • Cerebral Malformation Disorders
Green WDR62 in Malformations of cortical development


Level 2: Neurology
Version 7.39
Latest signed off version: v7.0 (30 Oct 2024)

Component of the following Super Panels:

  • Cerebral malformation

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Illumina TruGenome Clinical Sequencing Services
    • UKGTN
    • Radboud University Medical Center, Nijmegen
    • Emory Genetics Laboratory
    • Expert Review
    Phenotypes
    • Microcephaly 2, primary, autosomal recessive, with or without cortical malformations, OMIM:604317
    Green WDR62 in Severe microcephaly


    Level 2: Neurology
    Version 8.34
    Latest signed off version: v8.0 (30 Apr 2025)

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • NHS GMS
    • Expert Review Green
    • UKGTN
    • Radboud University Medical Center, Nijmegen
    • Other
    • Illumina TruGenome Clinical Sequencing Services
    • Expert list
    Phenotypes
    • Microcephaly 2, primary, autosomal recessive, with or without cortical malformations, OMIM:604317
    Green WDR62 in Fetal anomalies


    Level 2: Fetal (including NIPD)
    Version 6.158
    Latest signed off version: v6.0 (30 Apr 2025)

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • PAGE DD-Gene2Phenotype
    • Expert Review Green
    Phenotypes
    • MICROCEPHALY CORTICAL MALFORMATIONS AND MENTAL RETARDATION
    Green WDR62 in DDG2P


    Version 6.427
    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
    • MICROCEPHALY CORTICAL MALFORMATIONS AND MENTAL RETARDATION 604317
    Amber WDR62 in Early onset or syndromic epilepsy


    Level 2: Neurology
    Version 8.158
    Latest signed off version: v8.0 (30 Apr 2025)

    Component of the following Super Panels:

  • Paediatric disorders
  • Unexplained death in infancy and sudden unexplained death in childhood

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • Wessex and West Midlands GLH
    • NHS GMS
    • Victorian Clinical Genetics Services
    Phenotypes
    • Microcephaly 2, primary, autosomal recessive, with or without cortical malformations, OMIM:604317
    Green WDR62 in Intellectual disability


    Level 2: Developmental disorders
    Version 9.325
    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
    • Victorian Clinical Genetics Services
    • Expert Review Green
    • Radboud University Medical Center, Nijmegen
    • Illumina TruGenome Clinical Sequencing Services
    Phenotypes
    • Microcephaly 2, primary, autosomal recessive, with or without cortical malformations, OMIM:604317