1. Genes and Genomic Entities
  2. ASPM

ASPM

abnormal spindle microtubule assembly
OMIM: 605481, Gene2Phenotype

5 panels

Panel Reviews Mode of inheritance Details
5 panels
Green ASPM in Malformations of cortical development


Level 2: Neurology
Version 7.50
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
    • Radboud University Medical Center, Nijmegen
    • UKGTN
    Phenotypes
    • Microcephaly 5, primary, autosomal recessive, OMIM:608716
    Green ASPM in Severe microcephaly


    Level 2: Neurology
    Version 8.43
    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
    • Literature
    • Illumina TruGenome Clinical Sequencing Services
    • Expert list
    • Eligibility statement prior genetic testing
    • Other
    Phenotypes
    • Microcephaly 5, primary, autosomal recessive, OMIM:608716
    Green ASPM in Fetal anomalies


    Level 2: Fetal (including NIPD)
    Version 6.185
    Latest signed off version: v6.0 (30 Apr 2025)

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • PAGE DD-Gene2Phenotype
    • Expert Review Green
    Phenotypes
    • Microcephaly 5, primary, autosomal recessive, OMIM:608716
    Green ASPM in DDG2P


    Version 6.447
    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
    • PRIMARY AUTOSOMAL RECESSIVE MICROCEPHALY 279936
    Green ASPM in Intellectual disability


    Level 2: Developmental disorders
    Version 9.370
    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
    Phenotypes
    • Microcephaly 5, primary, autosomal recessive, OMIM:608716