WDR62

WD repeat domain 62
OMIM: 613583, Gene2Phenotype

14 panels

Panel Reviews Mode of inheritance Details
14 panels

Green WDR62 in Polymicrogyria and Schizencephaly


Level 2: Neurology and neurodevelopmental disorders
Version 0.195

Component of the following Super Panels:

  • Malformations of cortical development_Superpanel
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Victorian Clinical Genetics Services
    • Australian Genomics Health Alliance Brain Malformations Flagship
    Phenotypes
    • Microcephaly 2, primary, autosomal recessive, with or without cortical malformations, MIM# 604317
    • MONDO:0011435

    Red WDR62 in Cerebral Palsy


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.389

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • Literature
    Phenotypes
    • Microcephaly 2, primary, autosomal recessive, with or without cortical malformations, MIM#604317

    Green WDR62 in Mendeliome


    Version 1.2374

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Victorian Clinical Genetics Services
    Phenotypes
    • Microcephaly 2, primary, autosomal recessive, with or without cortical malformations, MIM# 604317
    • MONDO:0011435

    Green WDR62 in Microcephaly


    Level 2: Dysmorphic and congenital abnormality syndromes
    Version 1.301

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Victorian Clinical Genetics Services
    Phenotypes
    • Microcephaly 2, primary, autosomal recessive, with or without cortical malformations, MIM# 604317
    • MONDO:0011435

    Green WDR62 in Genetic Epilepsy


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.119

    Component of the following Super Panels:

  • Progressive Neurological Conditions
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Victorian Clinical Genetics Services
    • Australian Genomics Health Alliance Epilepsy Flagship
    Phenotypes
    • Microcephaly 2, primary, autosomal recessive, with or without cortical malformations, MIM# 604317
    • MONDO:0011435

    Green WDR62 in Callosome


    Level 2: Neurology and neurodevelopmental disorders
    Version 0.540

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Victorian Clinical Genetics Services
    Phenotypes
    • Microcephaly 2, primary, autosomal recessive, with or without cortical malformations, MIM# 604317
    • MONDO:0011435

    Green WDR62 in Intellectual disability syndromic and non-syndromic


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.83

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Genetic Health Queensland
    Phenotypes
    • Microcephaly 2, primary, autosomal recessive, with or without cortical malformations, MIM# 604317
    • MONDO:0011435

    Green WDR62 in Mackenzie's Mission_Reproductive Carrier Screening


    Level 2: Screening
    Version 0.109

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Mackenzie's Mission
    Phenotypes
    • Microcephaly 2, primary, autosomal recessive, with or without cortical malformations, 604317 (3)

    Amber WDR62 in Primary Ovarian Insufficiency_Premature Ovarian Failure

    Level 3: Gonadal and sex development disorders
    Level 2: Endocrine disorders
    Version 0.340

    review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Amber
    • Literature
    Phenotypes
    • Primary ovarian insufficiency

    Green WDR62 in Additional findings_Paediatric


    Level 2: Screening
    Version 0.278

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • BabySeq Category A gene
    • Expert Review Green
    Phenotypes
    • Microcephaly 2, primary, autosomal recessive, with or without cortical malformations

    Green WDR62 in Fetal anomalies


    Version 1.314

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Genomics England PanelApp
    • Genetic Health Queensland
    Phenotypes
    • Microcephaly 2, primary, autosomal recessive, with or without cortical malformations, MIM# 604317
    • MONDO:0011435

    Green WDR62 in Prepair 1000+


    Level 2: Screening
    Version 1.1586

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Mackenzie's Mission
    Phenotypes
    • Microcephaly 2, primary, autosomal recessive, with or without cortical malformations, MIM #604317

    Red WDR62 in BabyScreen+ newborn screening


    Level 2: Screening
    Version 1.116

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • BabySeq Category A gene
    Phenotypes
    • Microcephaly 2, primary, autosomal recessive, with or without cortical malformations MIM#604317

    Green WDR62 in Prepair 500+


    Level 2: Screening
    Version 1.5

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Mackenzie's Mission
    Phenotypes
    • Microcephaly 2, primary, autosomal recessive, with or without cortical malformations, 604317 (3)