Activity
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| Cerebral vascular malformations v4.2 | SIRT1 | Arina Puzriakova Classified gene: SIRT1 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cerebral vascular malformations v4.2 | SIRT1 | Arina Puzriakova Added comment: Comment on list classification: Rating Red as only a single case has been reported to date. Additional evidence is required before attributing causality. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cerebral vascular malformations v4.2 | SIRT1 | Arina Puzriakova Gene: sirt1 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cerebral vascular malformations v3.26 | SIRT1 |
Alexandra Njegic gene: SIRT1 was added gene: SIRT1 was added to Cerebral vascular malformations. Sources: Literature Mode of inheritance for gene: SIRT1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: SIRT1 were set to 30578106 Phenotypes for gene: SIRT1 were set to Vein of Galen Malformation Penetrance for gene: SIRT1 were set to Incomplete Review for gene: SIRT1 was set to RED Added comment: 30578106: 1 family, authors identified 1 de novo frameshift SIRT1 variant in proband, proband also harboured a transmitted CLDN14 variant. Supplementary table suggests relatives have capillary malformations. Sources: Literature |
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