| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Stroke v1.12 | RNF213 | Seb Lunke Marked gene: RNF213 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Stroke v1.12 | RNF213 | Seb Lunke Gene: rnf213 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Stroke v1.12 | RNF213 | Seb Lunke Classified gene: RNF213 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Stroke v1.12 | RNF213 | Seb Lunke Gene: rnf213 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Stroke v1.11 | RNF213 |
Seb Lunke gene: RNF213 was added gene: RNF213 was added to Stroke. Sources: Literature Mode of inheritance for gene: RNF213 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: RNF213 were set to 37924258 Phenotypes for gene: RNF213 were set to Moyamoya disease, MONDO:0016820; pediatric arterial ischemic stroke, MONDO:0018585 Review for gene: RNF213 was set to GREEN Added comment: 14 individuals from 13 unrelated families with (de novo) missensevariants in RNF213 clustering within or around the RING domain. Individuals presented either with early-onset stroke (n=11) or with Leigh syndrome like symptoms (n=3). No genotype-phenotype correlation could be established. Common features included Global Developmental Delay and Seizures, increased serum lactate, ischemic stroke, and carotid/cerebral artery stenosis. Onset of symptoms generally in the first 6 months of life. Moyamoya phenomenon was present in 10/13 individuals. Sources: Literature |
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