Severe microcephaly
Gene: ASPMEnsemblGeneIds (GRCh38): ENSG00000066279
EnsemblGeneIds (GRCh37): ENSG00000066279
OMIM: 605481, Gene2Phenotype
ASPM is in 5 panels
3 reviews
Louise Daugherty (Genomics England Curator)
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
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
- Other
- Eligibility statement prior genetic testing
- Phenotypes
-
- Microcephaly 5, primary, autosomal recessive, OMIM:608716
- OMIM
- 605481
- Clinvar variants
- Variants in ASPM
- Penetrance
- Complete
- Publications
- Panels with this gene
History Filter Activity
Set publications
Arina Puzriakova (Genomics England Curator)Publications for gene: ASPM were set to
Set Phenotypes
Arina Puzriakova (Genomics England Curator)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
Added New Source
Louise Daugherty (Genomics England Curator)Source NHS GMS was added to ASPM.
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.
Gene classified by Genomics England curator
Alice Gardham (Genomics England)This gene has been classified as Green List (High Evidence).
Added New Source
Rebecca Foulger (Genomics England curator)ASPM was added to Primary Microcephaly - Microcephalic Dwarfism Spectrumpanel. Source: UKGTN
Added New Source
Rebecca Foulger (Genomics England curator)ASPM was added to Primary Microcephaly - Microcephalic Dwarfism Spectrumpanel. Source: Radboud University Medical Center, Nijmegen
Added New Source
Rebecca Foulger (Genomics England curator)ASPM was added to Primary Microcephaly - Microcephalic Dwarfism Spectrumpanel. Source: Literature
Added New Source
Rebecca Foulger (Genomics England curator)ASPM was added to Primary Microcephaly - Microcephalic Dwarfism Spectrumpanel. Source: Illumina TruGenome Clinical Sequencing Services
Added New Source
Rebecca Foulger (Genomics England curator)ASPM was added to Primary Microcephaly - Microcephalic Dwarfism Spectrumpanel. Source: Expert list
Added New Source
Ellen McDonagh (Genomics England Curator)ASPM was added to Primary Microcephaly - Microcephalic Dwarfism Spectrumpanel. Sources: Eligibility statement prior genetic testing,Other
Created
Ellen McDonagh (Genomics England Curator)ASPM was created by ellenmcdonagh