WDR62

WD repeat domain 62
OMIM: 613583, Gene2Phenotype

8 panels

Panel Reviews Mode of inheritance Details
8 panels

Red WDR62 in Cerebral vascular malformations

Level 3: Cerebrovascular disorders
Level 2: Neurology and neurodevelopmental disorders
Version 2.4
Signed off v.2.2 on 2 Mar 2020

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 3: Neurodevelopmental disorders
Level 2: Neurology and neurodevelopmental disorders
Version 2.5
Signed off v.2.2 on 25 Feb 2020

Component of the following Super Panels:

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

    Green WDR62 in Severe microcephaly

    Level 3: DNA repair disorders
    Level 2: Dysmorphic and congenital abnormality syndromes
    Version 2.6
    Signed off v.2.2 on 2 Mar 2020

    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
    • MCPH
    • primary microcephaly
    • Primary Microcephaly 2 With or Without Cortical Malformations
    • Microcephaly 2, primary, autosomal recessive, with or without cortical malformations, 604317
    • microcephaly cortical malformations and mental retardation (MCMMR), 604317
    • Microcephaly 2, Primary, Autosomal Recessive, With Or Without Cortical Malformations

    Green WDR62 in Fetal anomalies


    Version 1.73
    Signed off v.1.2 on 17 Feb 2020

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

    Green WDR62 in DDG2P


    Version 2.8
    Signed off v.2.2 on 13 Feb 2020

    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 Genetic epilepsy syndromes

    Level 3: Inherited Epilepsy Syndromes
    Level 2: Neurology and neurodevelopmental disorders
    Version 2.89
    Signed off v.2.2 on 13 Feb 2020

    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, 604317

    Green WDR62 in Intellectual disability

    Level 3: Neurodevelopmental disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 3.82
    Signed off v.3.2 on 13 Feb 2020

    Component of the following Super Panels:

  • Hypotonic infant
  • Paediatric disorders
  • White matter disorders - childhood onset
  • 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, Cortical Malformations, and Mental Retardation
    • Microcephaly 2, primary, autosomal recessive, with or without cortical malformations, 604317
    • MICROCEPHALY CORTICAL MALFORMATIONS AND MENTAL RETARDATION (MCMMR)

    Green WDR62 in Severe Paediatric Disorders


    Version 1.6

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Next Generation Children Project
    • Expert Review Green
    • Expert list
    Phenotypes
    • Microcephaly 2, primary, autosomal recessive, with or without cortical malformations, 604317