| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Brain Calcification v0.16 | NRROS | Zornitza Stark Marked gene: NRROS as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Brain Calcification v0.16 | NRROS | Zornitza Stark Gene: nrros has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Brain Calcification v0.16 | NRROS | Zornitza Stark Classified gene: NRROS as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Brain Calcification v0.16 | NRROS | Zornitza Stark Gene: nrros has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Brain Calcification v0.15 | NRROS |
Zornitza Stark gene: NRROS was added gene: NRROS was added to Brain Calcification. Sources: Literature Mode of inheritance for gene: NRROS was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: NRROS were set to 32100099; 32197075 Phenotypes for gene: NRROS were set to neurodegeneration; intracranial calcification; epilepsy Review for gene: NRROS was set to GREEN Added comment: Normal development or mild developmental delay until onset of regression around age of 1 concurrent with epilepsy Biallelic LOF mutations with functional evidence of pathogenicity reported in 6 unrelated families. Sources: Literature |
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