Activity
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6 actions
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| Cerebral vascular malformations v3.40 | EVL | Achchuthan Shanmugasundram Classified gene: EVL as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cerebral vascular malformations v3.40 | EVL |
Achchuthan Shanmugasundram Added comment: Comment on list classification: As reviewed by Alexandra Njegic and reported in PMID:34125151, there is one patient with Moyamoya disease identified with compound heterozygous variants in EVL gene. There are no other cases or functional work available. This gene has not yet been reported with relevant phenotypes either in OMIM or in Gene2Phenotype. Hence, this gene should be rated red with current evidence. |
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| Cerebral vascular malformations v3.40 | EVL | Achchuthan Shanmugasundram Gene: evl has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cerebral vascular malformations v3.39 | EVL | Achchuthan Shanmugasundram Phenotypes for gene: EVL were changed from Moyamoya Disease to Moyamoya disease, MONDO:0016820 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cerebral vascular malformations v3.38 | EVL | Achchuthan Shanmugasundram reviewed gene: EVL: Rating: RED; Mode of pathogenicity: None; Publications: 34125151; Phenotypes: Moyamoya disease, MONDO:0016820; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cerebral vascular malformations v3.18 | EVL |
Alexandra Njegic gene: EVL was added gene: EVL was added to Cerebral vascular malformations. Sources: Literature Mode of inheritance for gene: EVL was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: EVL were set to 34125151 Phenotypes for gene: EVL were set to Moyamoya Disease Penetrance for gene: EVL were set to unknown Review for gene: EVL was set to RED Added comment: 34125151: 1 proband with compound heterozygous ‘damaging’ missense variants in EVL, pathogenicity not reported. No other reports in literature of EVL variants and MMD. Sources: Literature |
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