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  3. ASPM
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Microcephaly

Gene: ASPM

Green List (high evidence)
ASPM (abnormal spindle microtubule assembly)
EnsemblGeneIds (GRCh38): ENSG00000066279
EnsemblGeneIds (GRCh37): ENSG00000066279
OMIM: 605481, Gene2Phenotype
ASPM is in 10 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Well established gene-disease association, multiple families reported.
Created: 31 Jul 2020, 9:47 a.m. | Last Modified: 31 Jul 2020, 9:47 a.m.
Panel Version: 0.140

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Microcephaly 5, primary, autosomal recessive, MIM#608716

Publications

Created: 31 Jul 2020, 9:47 a.m.
Last Modified: 31 Jul 2020, 9:47 a.m.
Panel version: 0.140

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Microcephaly 5, primary, autosomal recessive, MIM#608716
OMIM
605481
Clinvar variants
Variants in ASPM
Penetrance
None
Publications
Panels with this gene

History Filter Activity

31 Jul 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: aspm has been classified as Green List (High Evidence).

31 Jul 2020, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: ASPM were changed from to Microcephaly 5, primary, autosomal recessive, MIM#608716

31 Jul 2020, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: ASPM were set to

31 Jul 2020, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: ASPM was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: ASPM was added gene: ASPM was added to Microcephaly_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: ASPM was set to Unknown