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| Cerebral vascular malformations v4.7 | ITGB1 | Ida Ertmanska edited their review of gene: ITGB1: Changed mode of inheritance: Unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cerebral vascular malformations v4.7 | ITGB1 | Ida Ertmanska edited their review of gene: ITGB1: Added comment: Comment on list classification: There are two patients reported in literature with Vein of Galen aneurysmal malformation and LoF variants in ITGB1 (presumed monoallelic but not specified). This gene should be rated Amber for Cerebral vascular malformations until more evidence is reported.; Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cerebral vascular malformations v4.7 | ITGB1 | Ida Ertmanska Phenotypes for gene: ITGB1 were changed from Vein of Galen Malformation to Vein of Galen aneurysmal malformation, HP:0030713 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cerebral vascular malformations v4.6 | ITGB1 | Ida Ertmanska Classified gene: ITGB1 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cerebral vascular malformations v4.6 | ITGB1 | Ida Ertmanska Gene: itgb1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cerebral vascular malformations v4.5 | ITGB1 | Ida Ertmanska reviewed gene: ITGB1: Rating: AMBER; Mode of pathogenicity: None; Publications: 37978175; Phenotypes: Vein of Galen aneurysmal malformation, HP:0030713; Mode of inheritance: None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| 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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