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| Mendeliome v1.3626 | EXOSC10 | Zornitza Stark Marked gene: EXOSC10 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.3626 | EXOSC10 | Zornitza Stark Gene: exosc10 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.3626 | EXOSC10 | Zornitza Stark Classified gene: EXOSC10 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.3626 | EXOSC10 | Zornitza Stark Gene: exosc10 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.3577 | EXOSC10 |
Rylee Peters changed review comment from: PMID: 41132091 | Article describes four unrelated individuals with heterozygous de novo EXOSC10 variants (1x missense and 4x microdeletions within the 1p36 region) presenting with primary microcephaly, anomalies of cortical structures, intellectual disability and global developmental delay. Exosc10 heterozygous knockout mice exhibited reduced cortical size resembling microcephaly, with a more severe phenotype observed in homozygous knockout mice. However, these microdeletions occur within the 1p36 region, which is associated with chromosome 1p36 deletion syndrome (green in panelapp), and encompass many genes. Sources: Literature; to: PMID: 41132091 | Article describes four unrelated individuals with heterozygous de novo EXOSC10 variants (1x missense and 4x microdeletions within the 1p36 region) presenting with primary microcephaly, anomalies of cortical structures, intellectual disability and global developmental delay. Exosc10 heterozygous knockout mice exhibited reduced cortical size resembling microcephaly, with a more severe phenotype observed in homozygous knockout mice. However, these microdeletions occur within the 1p36 region, which is associated with chromosome 1p36 deletion syndrome (green in Panelapp), and encompass many genes. Sources: Literature |
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| Mendeliome v1.3577 | EXOSC10 |
Rylee Peters gene: EXOSC10 was added gene: EXOSC10 was added to Mendeliome. Sources: Literature Mode of inheritance for gene: EXOSC10 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: EXOSC10 were set to 41132091 Phenotypes for gene: EXOSC10 were set to Microcephaly, MONDO:0001149, EXOSC10-related Review for gene: EXOSC10 was set to AMBER Added comment: PMID: 41132091 | Article describes four unrelated individuals with heterozygous de novo EXOSC10 variants (1x missense and 4x microdeletions within the 1p36 region) presenting with primary microcephaly, anomalies of cortical structures, intellectual disability and global developmental delay. Exosc10 heterozygous knockout mice exhibited reduced cortical size resembling microcephaly, with a more severe phenotype observed in homozygous knockout mice. However, these microdeletions occur within the 1p36 region, which is associated with chromosome 1p36 deletion syndrome (green in panelapp), and encompass many genes. Sources: Literature |
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