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| Cerebral vascular malformations v0.32 | ANO1 |
Suliman Khan gene: ANO1 was added gene: ANO1 was added to Cerebral vascular malformations. Sources: Literature Mode of inheritance for gene: ANO1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: ANO1 were set to PMID: 37253099 Phenotypes for gene: ANO1 were set to moyamoya; cerebral arteriopathy Review for gene: ANO1 was set to GREEN Added comment: PMID: 37253099: screening analysis of Moyamoya disease (MMD) cohort revealed 8 patients with variants in the ANO1 gene. Two families had the same rare variant p.Met658Val in ANO1 gene. The ANO1 rare variants were assessed using patch-clamp recordings, and the majority of variants, including ANO1 p.Met658Val, displayed increased sensitivity to intracellular Ca2+. Patients harboring these gain-of-function ANO1 variants had classic features of MMD, but also had aneurysm, stenosis, and/or occlusion in the posterior circulation. Sources: Literature |
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| Cerebral vascular malformations v0.0 | NIN |
Zornitza Stark gene: NIN was added gene: NIN was added to Cerebral vascular malformations. Sources: Expert Review Red,Genomics England PanelApp Mode of inheritance for gene: NIN was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: NIN were set to 22933543 Phenotypes for gene: NIN were set to Seckel syndrome 7 614851 |
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