| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Lissencephaly and Band Heterotopia v0.57 | ASPM | Zornitza Stark Marked gene: ASPM as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Lissencephaly and Band Heterotopia v0.57 | ASPM | Zornitza Stark Gene: aspm has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Lissencephaly and Band Heterotopia v0.57 | ASPM | Zornitza Stark Classified gene: ASPM as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Lissencephaly and Band Heterotopia v0.57 | ASPM | Zornitza Stark Gene: aspm has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Lissencephaly and Band Heterotopia v0.52 | ASPM |
Ain Roesley 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 Added comment: 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 |
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