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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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| Mendeliome v0.7563 | EXOSC1 | Zornitza Stark Phenotypes for gene: EXOSC1 were changed from Pontocerebellar hypoplasia to Pontocerebellar hypoplasia, type 1F, MIM# 619304 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.7562 | EXOSC1 | Zornitza Stark edited their review of gene: EXOSC1: Changed phenotypes: Pontocerebellar hypoplasia, type 1F, MIM# 619304 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.7186 | EXOSC1 | Zornitza Stark Marked gene: EXOSC1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.7186 | EXOSC1 | Zornitza Stark Gene: exosc1 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.7186 | EXOSC1 |
Zornitza Stark gene: EXOSC1 was added gene: EXOSC1 was added to Mendeliome. Sources: Literature Mode of inheritance for gene: EXOSC1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: EXOSC1 were set to 33463720 Phenotypes for gene: EXOSC1 were set to Pontocerebellar hypoplasia Review for gene: EXOSC1 was set to RED Added comment: An 8‐months‐old male with developmental delay, microcephaly, subtle dysmorphism, hypotonia, pontocerebellar hypoplasia and delayed myelination. Similarly affected elder sibling succumbed at the age of 4‐years 6‐months. Exome sequencing revealed a homozygous missense variant (c.104C >T, p.Ser35Leu) in EXOSC1. In silico mutagenesis revealed loss of a polar contact with neighbouring Leu37 residue. Quantitative real‐time PCR indicated no appreciable differences in EXOSC1 transcript levels. Immunoblotting and blue native PAGE revealed reduction in the EXOSC1 protein levels and EXO9 complex in the proband, respectively. Of note, bi‐allelic variants in other exosome subunits EXOSC3, EXOSC8 and EXOSC9 have been reported to cause pontocerebellar hypoplasia type 1B, type 1C and type 1D, respectively. Sources: Literature |
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