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Fetal anomalies

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

Rebecca Foulger (Genomics England curator)

Green List (high evidence)

This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.
Created: 24 Mar 2019, 4:30 p.m.
DDG2P rating in original PAGE list: Confirmed for PRIMARY AUTOSOMAL RECESSIVE MICROCEPHALY
Created: 11 Dec 2018, 9:04 a.m.

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • PAGE DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • PRIMARY AUTOSOMAL RECESSIVE MICROCEPHALY
OMIM
605481
Clinvar variants
Variants in ASPM
Penetrance
None
Panels with this gene

History Filter Activity

8 Nov 2018, Gel status: 4

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Rebecca Foulger (Genomics England curator)

gene: ASPM was added gene: ASPM was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: ASPM was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ASPM were set to PRIMARY AUTOSOMAL RECESSIVE MICROCEPHALY