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  2. Lissencephaly and Band Heterotopia
  3. ASPM
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Lissencephaly and Band Heterotopia

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

Ain Roesley (Victorian Clinical Genetics Services)

Green List (high evidence)

PMID: 18452193;
Consanguineous family with 2 affecteds with simplified pattern of gyration
- homozygous for a PTV

PMID: 19332161;
- consanguineous Algerian family in which 3/5 affecteds presented with simplified cortical gyration
- cHet for 2 PTVs

PMID: 19770472;
- 11 families with 16 affecteds
- 9/12 affecteds have simplified frontal and/or occipital gyral pattern
- All PTVs reported

PMID: 27250695;
- 15 families with 21 affecteds
- 4 had coarse gyri and 8 had simplified gyral pattern
- all PTVs
Sources: Literature
Created: 24 Aug 2020, 7:24 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

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

Publications

Created: 24 Aug 2020, 7:24 a.m.

Panel version: 0.52

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Microcephaly 5, primary, autosomal recessive (MIM#608716)
OMIM
605481
Clinvar variants
Variants in ASPM
Penetrance
unknown
Publications
Panels with this gene

History Filter Activity

24 Aug 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).

24 Aug 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).

24 Aug 2020, Gel status: 0

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

Ain Roesley (Victorian Clinical Genetics Services)

gene: ASPM was added gene: ASPM was added to Lissencephaly and Band Heterotopia. Sources: Literature Mode of inheritance for gene: ASPM was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ASPM were set to 18452193; 19332161; 19770472; 27250695 Phenotypes for gene: ASPM were set to Microcephaly 5, primary, autosomal recessive (MIM#608716) Penetrance for gene: ASPM were set to unknown Review for gene: ASPM was set to GREEN