Severe microcephaly
Gene: ASPM
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 GreenCreated: 29 Jul 2019, 4:18 p.m. | Last Modified: 29 Jul 2019, 4:18 p.m.
Panel Version: 1.62
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.
Phenotype and mode of inheritance sourced from OMIM.Created: 8 Jan 2016, 9:50 a.m.
Publications for gene: ASPM were set to
Phenotypes for gene: ASPM were changed from 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 to Microcephaly 5, primary, autosomal recessive, OMIM:608716
Source NHS GMS was added to ASPM.
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.
This gene has been classified as Green List (High Evidence).
ASPM was added to Primary Microcephaly - Microcephalic Dwarfism Spectrumpanel. Source: UKGTN
ASPM was added to Primary Microcephaly - Microcephalic Dwarfism Spectrumpanel. Source: Radboud University Medical Center, Nijmegen
ASPM was added to Primary Microcephaly - Microcephalic Dwarfism Spectrumpanel. Source: Literature
ASPM was added to Primary Microcephaly - Microcephalic Dwarfism Spectrumpanel. Source: Illumina TruGenome Clinical Sequencing Services
ASPM was added to Primary Microcephaly - Microcephalic Dwarfism Spectrumpanel. Source: Expert list
ASPM was added to Primary Microcephaly - Microcephalic Dwarfism Spectrumpanel. Sources: Eligibility statement prior genetic testing,Other
ASPM was created by ellenmcdonagh