Malformations of cortical development

Gene: ASPM

Green List (high evidence)

ASPM (abnormal spindle microtubule assembly)
EnsemblGeneIds (GRCh38): ENSG00000066279
EnsemblGeneIds (GRCh37): ENSG00000066279
OMIM: 605481, Gene2Phenotype
ASPM is in 6 panels

1 review

Alice Gardham (Genomics England)

Green List (high evidence)

Recognised on G2P. Associated with simple gyral pattern
Created: 19 Dec 2016, 1:53 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Microcephaly 5, primary, autosomal recessive 608716

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
  • UKGTN
  • Illumina TruGenome Clinical Sequencing Services
Phenotypes
  • Microcephaly 5, primary, autosomal recessive 608716
OMIM
605481
Clinvar variants
Variants in ASPM
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

19 Dec 2016, Gel status: 4

Gene classified by Genomics England curator

Alice Gardham (Genomics England)

This gene has been classified as Green List (High Evidence).

19 Dec 2016, Gel status: 3

Added New Source

Alice Gardham (Genomics England)

ASPM was added to Malformations of cortical developmentpanel. Sources: UKGTN,Radboud University Medical Center, Nijmegen,Illumina TruGenome Clinical Sequencing Services

19 Dec 2016, Gel status: 0

Created

Alice Gardham (Genomics England)

ASPM was created by agardham