Activity
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11 actions
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| Cerebral vascular malformations v3.38 | KEL | Achchuthan Shanmugasundram Classified gene: KEL as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cerebral vascular malformations v3.38 | KEL | Achchuthan Shanmugasundram Gene: kel has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cerebral vascular malformations v3.37 | KEL | Achchuthan Shanmugasundram Phenotypes for gene: KEL were changed from Vein of Galen Malformation to vein of Galen aneurysm, MONDO:0015196 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cerebral vascular malformations v3.36 | KEL | Achchuthan Shanmugasundram reviewed gene: KEL: Rating: AMBER; Mode of pathogenicity: None; Publications: 30578106, 37978175; Phenotypes: vein of Galen aneurysm, MONDO:0015196; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cerebral vascular malformations v3.26 | ITGB1 |
Alexandra Njegic gene: ITGB1 was added gene: ITGB1 was added to Cerebral vascular malformations. Sources: Literature Mode of inheritance for gene: ITGB1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: ITGB1 were set to 37978175 Phenotypes for gene: ITGB1 were set to Vein of Galen Malformation Penetrance for gene: ITGB1 were set to Incomplete Review for gene: ITGB1 was set to AMBER Added comment: 37978175 (including PMID 30578106 cohort): combined 2 probands, 1 unphased frameshift and 1 transmitted splice variant, in silico modelling predicted NMD, pathogenicity given as 'likely damaging'. Sources: Literature |
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| Cerebral vascular malformations v3.26 | KEL |
Alexandra Njegic gene: KEL was added gene: KEL was added to Cerebral vascular malformations. Sources: Literature Mode of inheritance for gene: KEL was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: KEL were set to 30578106; 37978175 Phenotypes for gene: KEL were set to Vein of Galen Malformation Penetrance for gene: KEL were set to unknown Review for gene: KEL was set to AMBER Added comment: 37978175, 30578106 (same cohort with additional VOGM probands in 37978175): 30578106; 2/55 VOGM probands with a de novo nonsense or missense variant in KEL, absent in unaffected parents and siblings. No in vitro or in vivo studies. Pathogenicity not provided. 37978175: No additional KEL variants. Sources: Literature |
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| Cerebral vascular malformations v3.25 | DIAPH1 | Sarah Leigh edited their review of gene: DIAPH1: Added comment: Kundishora et al (PMID: 34125151) reports seven DIAPH1 variants in six patients from two cohorts containing a total of 108 patients with features of Moyamoya disease (MMD). The authors suggest that DIAPH1 variants may be associated with MMD risk gene and impaired vascular cell actin remodeling in MMD pathogenesis. In PMID: 37400591 the authors report that MMD patients with DIAPH1 variants were more likely to have posterior circulation involvement (7/9, 78%) than those without DIAPH1 variants (5/41, 12%). No variant functional studies were presented in these studies.; Changed rating: AMBER | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cerebral vascular malformations v3.16 | TRAIP | Arina Puzriakova Phenotypes for gene: TRAIP were changed from Seckel syndrome 9 616777 to Seckel syndrome 9, OMIM:616777 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cerebral vascular malformations v2.51 | DNA2 | Arina Puzriakova Phenotypes for gene: DNA2 were changed from Seckel syndrome 8 615807 to Seckel syndrome 8, OMIM:615807 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cerebral vascular malformations v2.26 | CEP152 | Ivone Leong Phenotypes for gene: CEP152 were changed from Seckel syndrome 5 613823 to Seckel syndrome 5, OMIM:613823 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cerebral vascular malformations v2.24 | ATR | Ivone Leong Phenotypes for gene: ATR were changed from Seckel syndrome 1 210600 to Seckel syndrome 1, OMIM:210600 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||