Activity
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11 actions
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| Dilated and arrhythmogenic cardiomyopathy v4.8 | CRYAB | Achchuthan Shanmugasundram Classified gene: CRYAB as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Dilated and arrhythmogenic cardiomyopathy v4.8 | CRYAB | Achchuthan Shanmugasundram Added comment: Comment on list classification: There are three unrelated cases reported with isolated dilated cardiomyopathy (DCM). However, the variant was not specified for one of the cases. Hence, the gene should be rated amber with 'watchlist' tagged added for future review with new evidence. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Dilated and arrhythmogenic cardiomyopathy v4.8 | CRYAB | Achchuthan Shanmugasundram Gene: cryab has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Dilated and arrhythmogenic cardiomyopathy v4.7 | CRYAB | Achchuthan Shanmugasundram Phenotypes for gene: CRYAB were changed from Cardiomyopathy, dilated, 1II, OMIM:615184; Myopathy, myofibrillar, 2, OMIM:608810 to Cardiomyopathy, dilated, 1II, OMIM:615184; dilated cardiomyopathy 1II, MONDO:0014073 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Dilated and arrhythmogenic cardiomyopathy v4.6 | CRYAB | Achchuthan Shanmugasundram Publications for gene: CRYAB were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Dilated and arrhythmogenic cardiomyopathy v4.5 | CRYAB | Achchuthan Shanmugasundram Mode of inheritance for gene: CRYAB was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Dilated and arrhythmogenic cardiomyopathy v4.4 | CRYAB | Achchuthan Shanmugasundram Tag watchlist tag was added to gene: CRYAB. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Dilated and arrhythmogenic cardiomyopathy v4.4 | CRYAB | Achchuthan Shanmugasundram reviewed gene: CRYAB: Rating: AMBER; Mode of pathogenicity: None; Publications: 40046506, 41153379, 42170542; Phenotypes: Cardiomyopathy, dilated, 1II, OMIM:615184, dilated cardiomyopathy 1II, MONDO:0014073; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Dilated and arrhythmogenic cardiomyopathy v1.26 | CRYAB | Arina Puzriakova Phenotypes for gene: CRYAB were changed from to Cardiomyopathy, dilated, 1II, OMIM:615184; Myopathy, myofibrillar, 2, OMIM:608810 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Dilated and arrhythmogenic cardiomyopathy v0.52 | CRYAB | Ivone Leong reviewed gene: CRYAB: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Dilated and arrhythmogenic cardiomyopathy v0.51 | CRYAB |
Ivone Leong gene: CRYAB was added gene: CRYAB was added to Dilated cardiomyopathy - adult and teen. Sources: NHS GMS,Expert Review Amber Mode of inheritance for gene: CRYAB was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown |
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