Severe microcephaly

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

3 reviews

Louise Daugherty (Genomics England Curator)

I don't know

As discussed with the GMS Neurology Specialist Test Group webex call 11th July 2019: The Specialist Test Group all agreed that there is enough evidence to rate this gene Green
Created: 29 Jul 2019, 4:18 p.m. | Last Modified: 29 Jul 2019, 4:18 p.m.
Panel Version: 1.62

Rebecca Foulger (Genomics England curator)

PMID:27920410 report a novel homozygous splice-site variant (c.3742-1G > C) in the ASPM gene, based on an analysis of 10 individuals (including 2 patients) of a Saudi family. The variant is predicted to have an effect on splicing.
Created: 13 Dec 2016, 10:41 a.m.

Ellen McDonagh (Genomics England Curator)

Phenotype and mode of inheritance sourced from OMIM.
Created: 8 Jan 2016, 9:50 a.m.

Details

Mode of Inheritance
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
OMIM
605481
Clinvar variants
Variants in ASPM
Penetrance
Complete
Panels with this gene

History Filter Activity

29 Jul 2019, Gel status: 3

Added New Source

Louise Daugherty (Genomics England Curator)

Source NHS GMS was added to ASPM.

2 Mar 2017, Gel status: 4

panel promoted to version 1

Rebecca Foulger (Genomics England curator)

2nd March 2017: Panel review was assessed and panel was revised according to expert review and additional curation. This panel began with an expert gene list from Professor Andrew Jackson (University of Edinburgh) for primary microcephaly (MCPH) and microcephalic primordial dwarfism (MPD). Other disorders are included where microcephaly is a primary feature. Disorders where microcephaly is not the primary presenting feature are not included (e.g. congenital disorders of glycosylation, Proud syndrome, Norrie disease). The panel does not include disorders with a cortical malformation (e.g. lissencephaly) since the Malformations of cortical development' panel would be applied to these patients.

12 Jan 2017, Gel status: 4

Gene classified by Genomics England curator

Alice Gardham (Genomics England)

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

13 Dec 2016, Gel status: 3

Added New Source

Rebecca Foulger (Genomics England curator)

ASPM was added to Primary Microcephaly - Microcephalic Dwarfism Spectrumpanel. Source: UKGTN

13 Dec 2016, Gel status: 2

Added New Source

Rebecca Foulger (Genomics England curator)

ASPM was added to Primary Microcephaly - Microcephalic Dwarfism Spectrumpanel. Source: Radboud University Medical Center, Nijmegen

13 Dec 2016, Gel status: 1

Added New Source

Rebecca Foulger (Genomics England curator)

ASPM was added to Primary Microcephaly - Microcephalic Dwarfism Spectrumpanel. Source: Literature

13 Dec 2016, Gel status: 1

Added New Source

Rebecca Foulger (Genomics England curator)

ASPM was added to Primary Microcephaly - Microcephalic Dwarfism Spectrumpanel. Source: Illumina TruGenome Clinical Sequencing Services

13 Dec 2016, Gel status: 0

Added New Source

Rebecca Foulger (Genomics England curator)

ASPM was added to Primary Microcephaly - Microcephalic Dwarfism Spectrumpanel. Source: Expert list

8 Jan 2016, Gel status: 0

Created

Ellen McDonagh (Genomics England Curator)

ASPM was created by ellenmcdonagh

8 Jan 2016, Gel status: 0

Added New Source

Ellen McDonagh (Genomics England Curator)

ASPM was added to Primary Microcephaly - Microcephalic Dwarfism Spectrumpanel. Sources: Eligibility statement prior genetic testing,Other