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 3: Cerebrovascular disorders
Level 2: Neurology and neurodevelopmental disorders
Version 1.48

review Not set
Sources
  • 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 1.171

Component of the following Super Panels:

  • Cerebral malformations v3.1
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Emory Genetics Laboratory
    • Illumina TruGenome Clinical Sequencing Services
    • UKGTN
    • Radboud University Medical Center, Nijmegen
    • 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 1.74

    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 0.346

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

    Green WDR62 in DDG2P


    Version 1.148

    Component of the following Super Panels:

  • Paediatric disorders v4.397
  • 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 1.407

    Component of the following Super Panels:

  • Epilepsy - early onset or syndromic v2.907
  • 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 2.1098

    Component of the following Super Panels:

  • Paediatric disorders v4.397
  • White matter disorders - childhood onset v4.229
  • Hypotonic infant with a likely central cause v3.1049
  • 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)