Activity
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| Cerebral vascular malformations v3.26 | DIAPH1 | Sarah Leigh Tag watchlist tag was added to gene: DIAPH1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cerebral vascular malformations v3.26 | DIAPH1 | Sarah Leigh Publications for gene: DIAPH1 were set to 34125151; 37400591 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cerebral vascular malformations v3.25 | DIAPH1 | Sarah Leigh Deleted their comment | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| 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 v3.25 | DIAPH1 | Sarah Leigh Added comment: Comment on publications: PMID: 37012328 is not relevant to this gene | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cerebral vascular malformations v3.25 | DIAPH1 | Sarah Leigh Publications for gene: DIAPH1 were set to 34125151; 37400591; 37012328 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cerebral vascular malformations v3.24 | DIAPH1 | Sarah Leigh Phenotypes for gene: DIAPH1 were changed from Moyamoya disease to Seizures, cortical blindness, microcephaly syndrome, OMIM:616632; progressive microcephaly-seizures-cortical blindness-developmental delay syndrome, MONDO:0014714 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cerebral vascular malformations v3.23 | DIAPH1 | Sarah Leigh Classified gene: DIAPH1 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cerebral vascular malformations v3.23 | DIAPH1 | Sarah Leigh Gene: diaph1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cerebral vascular malformations v3.18 | DIAPH1 |
Alexandra Njegic gene: DIAPH1 was added gene: DIAPH1 was added to Cerebral vascular malformations. Sources: Literature Mode of inheritance for gene: DIAPH1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: DIAPH1 were set to 34125151; 37400591; 37012328 Phenotypes for gene: DIAPH1 were set to Moyamoya disease Penetrance for gene: DIAPH1 were set to Incomplete Mode of pathogenicity for gene: DIAPH1 was set to Other Review for gene: DIAPH1 was set to AMBER Added comment: 34125151: Authors suggest MMD risk gene, haploinsufficiency mechanism. Discovery cohort of patients with sporadic, bilateral MMD associated with transfusion dependent thrombocytopenia, found 3/24 variants (2 de novo, 1 transmitted); 4/84 further MMD validation cohort (2 unphased, 1 transmitted). In silico predictions only, no phenotyping of parents. No probands had deafness – AD truncating DIAPH1 associated with deafness 1 with or without thrombocytopenia OMIM: 124900 and AR truncating variants are associated with seizures, cortical blindness, microcephaly syndrome OMIM: 616632. 37400591: 2/50 missense variants (7 synonymous) in an Asian MMD population, authors suggest an association between DIAPH1 mutation and PCA involvement in MMD. 37012328: 3 patients with MMA, DIAPH1 variants identified through WES filtering, no evidence of pathogenicity provided. Sources: Literature |
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