Activity
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14 actions
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| Cerebral vascular malformations v4.9 | ANO1 |
Achchuthan Shanmugasundram Tag Q2_25_ promote_green was removed from gene: ANO1. Tag Q2_25_expert_review was removed from gene: ANO1. Tag Q2_25_ NHS_review was removed from gene: ANO1. |
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| Cerebral vascular malformations v4.9 | ANO1 | Achchuthan Shanmugasundram reviewed gene: ANO1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cerebral vascular malformations v4.8 | ANO1 |
Achchuthan Shanmugasundram Source NHS GMS was added to ANO1. Source Expert Review Green was added to ANO1. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| Cerebral vascular malformations v4.5 | ANO1 | Eleanor Williams Tag Q2_25_expert_review tag was added to gene: ANO1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cerebral vascular malformations v4.4 | ANO1 | Eleanor Williams commented on gene: ANO1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cerebral vascular malformations v3.22 | ANO1 |
Sarah Leigh Tag Q2_25_ promote_green tag was added to gene: ANO1. Tag Q2_25_ NHS_review tag was added to gene: ANO1. |
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| Cerebral vascular malformations v3.22 | ANO1 | Sarah Leigh edited their review of gene: ANO1: Added comment: Three ANO1 variant have been associated with Moyamoya disease 7 (OMIM:620687) in three unrelated cases (PMID: 37253099). Two of the variants were heterozygous in the patients, while the third was homozygous. For each of the variants, electrophysiologic studies in variant transfected HEK293 cells revealed that the variant channel had an increased Ca(2+) sensitivity resulting in increased membrane Cl- conductance at lower intracellular Ca(2+) levels in comparison to the controls, which is consistent with a gain-of-function effect.; Changed rating: GREEN; Changed publications to: 37253099; Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cerebral vascular malformations v3.22 | ANO1 | Sarah Leigh Added comment: Comment on publications: PMID: 37012328 was not relevant to this gene | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cerebral vascular malformations v3.22 | ANO1 | Sarah Leigh Publications for gene: ANO1 were set to 37253099 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cerebral vascular malformations v3.21 | ANO1 | Sarah Leigh Publications for gene: ANO1 were set to 37253099; 37012328 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cerebral vascular malformations v3.20 | ANO1 | Sarah Leigh Phenotypes for gene: ANO1 were changed from Moyamoya disease 7, 620687 to Moyamoya disease 7, OMIM:620687; moyamoya disease 7, MONDO:0958202 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cerebral vascular malformations v3.19 | ANO1 | Sarah Leigh Classified gene: ANO1 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cerebral vascular malformations v3.19 | ANO1 | Sarah Leigh Gene: ano1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cerebral vascular malformations v3.18 | ANO1 |
Alexandra Njegic gene: ANO1 was added gene: ANO1 was added to Cerebral vascular malformations. Sources: Literature Mode of inheritance for gene: ANO1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: ANO1 were set to 37253099; 37012328 Phenotypes for gene: ANO1 were set to Moyamoya disease 7, 620687 Penetrance for gene: ANO1 were set to Incomplete Mode of pathogenicity for gene: ANO1 was set to Other Review for gene: ANO1 was set to AMBER Added comment: 37253099: 6 families showed AD, 1 patient AR. GOF and LOF implied. 7 variants identified total from 84 unsolved families and additional 150 probands. In vitro modelling of different missense variants in HEK cells shows GOF and LOF mechanisms. GOF variants (p.Met658Val, p.Glu459Lys, p.Thr740Ile p.Glu170Lys) have increased membrane Cl− conductance at lower intracellular Ca2+ levels, determined through patch clamp. Predicted LOF p.Arg890Gln (in gnomAD) as no Ca2+ currents evoked. Some variants show no alteration to Ca2+ sensitivity (p.Arg77Gln [in gnomAD) and p.Ser196Thr) but near binding site for PIP2. Authors note that ANO1 may be paternally imprinted as affected individuals who inherited the variant from their mothers had an earlier age at onset, whereas those who inherited the variant from their father had later onset (families MM137/MM001). 37012328: 88 paediatric MMA patients, 3 patients with mixed clinical presentations had ANO1 variants through WES filtering, no evidence of pathogenicity provided. Sources: Literature |
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