ASPM

abnormal spindle microtubule assembly
OMIM: 605481, Gene2Phenotype

7 panels

Panel Reviews Mode of inheritance Details
7 panels

Green ASPM 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
    • Radboud University Medical Center, Nijmegen
    • UKGTN
    Phenotypes
    • Microcephaly 5, primary, autosomal recessive 608716

    Red ASPM in Autism


    Version 0.15

    review Not set
    Sources
    • Expert Review Red
    • SFARI

    Green ASPM 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
    • Literature
    • Illumina TruGenome Clinical Sequencing Services
    • Expert list
    • Eligibility statement prior genetic testing
    • Other
    Phenotypes
    • Microcephaly 5, primary, autosomal recessive
    • MCPH
    • primary microcephaly
    • Primary Microcephaly, Recessive
    • Autosomal recessive primary microcephaly (MCPH)
    • Microcephaly 5, primary, autosomal recessive, 608716
    • Microcephaly 5, Primary, Autosomal Recessive

    Green ASPM 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
    • PRIMARY AUTOSOMAL RECESSIVE MICROCEPHALY

    Green ASPM 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
    • PRIMARY AUTOSOMAL RECESSIVE MICROCEPHALY 279936

    Green ASPM 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
    Phenotypes
    • Microcephaly 5, primary, autosomal recessive, 608716
    • PRIMARY AUTOSOMAL RECESSIVE MICROCEPHALY

    Green ASPM in Severe Paediatric Disorders


    Version 1.6

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Next Generation Children Project
    • Expert Review Green
    • Expert list
    Phenotypes
    • Microcephaly 5, primary, autosomal recessive, 608716