| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Intracerebral calcification disorders v1.21 | NRROS | Sarah Leigh Classified gene: NRROS as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intracerebral calcification disorders v1.21 | NRROS | Sarah Leigh Added comment: Comment on list classification: sufficient evidence for this gene to be green. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intracerebral calcification disorders v1.21 | NRROS | Sarah Leigh Gene: nrros has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intracerebral calcification disorders v1.20 | NRROS |
Sarah Leigh gene: NRROS was added gene: NRROS was added to Intracerebral calcification disorders. Sources: Literature Mode of inheritance for gene: NRROS was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: NRROS were set to 32100099; 32197075; 28459434 Phenotypes for gene: NRROS were set to Seizures, early-onset, with neurodegeneration and brain calcification 618875 Review for gene: NRROS was set to GREEN Added comment: Associated with relevant phenotype in OMIM and as probable Gen2Phen gene for NRROS-related Infantile-Onset Neurodegeneration with Intracranial Calcification. At least 6 variants reported in at least 5 unrelated cases (PMIDs 32100099;32197075), together with supportive mouse model (PMID 28459434). Sources: Literature |
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