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| Mendeliome v1.3566 | NOL10 | Zornitza Stark Marked gene: NOL10 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.3566 | NOL10 | Zornitza Stark Gene: nol10 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v1.3552 | NOL10 |
Sangavi Sivagnanasundram gene: NOL10 was added gene: NOL10 was added to Mendeliome. Sources: Literature Mode of inheritance for gene: NOL10 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: NOL10 were set to 41093997 Phenotypes for gene: NOL10 were set to NOL10-related neurological disorder MONDO:0100545 Review for gene: NOL10 was set to RED Added comment: 12yr F with recurrent focal seizures, progressive memory impairment and atrophy and parietal gliosis on MRI. Homozygous missense variant was identified (NM_024894.4: c.682 A > C; p.Asn228His). The variant is absent in gnomAD v4.1 Functional study using patient-derived fibroblasts was conducted and showed defective ribosome biogenesis. As this is a new gene disease association, it is unclear if that is the mechanism of disease. Need more evidence to promote the gene to Amber. Sources: Literature |
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