ASPM

abnormal spindle microtubule assembly
OMIM: 605481, Gene2Phenotype

6 panels

Panel Reviews Mode of inheritance Details
6 panels

Green ASPM in Malformations of cortical development

Level 3: Neurodevelopmental disorders
Level 2: Neurology and neurodevelopmental disorders
Version 1.171

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • UKGTN
  • Radboud University Medical Center, Nijmegen
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 1.74

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
  • Other
  • Eligibility statement prior genetic testing
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 0.346

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • PAGE DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • PRIMARY AUTOSOMAL RECESSIVE MICROCEPHALY

Green ASPM in DDG2P


Version 1.148

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 2.1098

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