Activity
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11 actions
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| Dilated and arrhythmogenic cardiomyopathy v3.2 | PRDM16 | Jesse Hayesmoore reviewed gene: PRDM16: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 23768516, PMID: 24454898, PMID: 37395136, PMID: 33500567, PMID: 29367541, PMID: 35893073, PMID: 29447731, PMID: 30847666, PMID: 33082984, PMID: 32183154, PMID: 34540771, PMID: 34350506, PMID: 34935411, PMID: 38113297, PMID: 31965688, PMID: 40935858, PMID: 21343612, PMID: 32083975, PMID: 33086060, PMID: 34915728; Phenotypes: LVNC, DCM; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Dilated and arrhythmogenic cardiomyopathy v2.36 | PRDM16 |
Eleanor Williams Tag Q2_24_promote_green was removed from gene: PRDM16. Tag Q2_24_NHS_review was removed from gene: PRDM16. |
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| Dilated and arrhythmogenic cardiomyopathy v2.35 | PRDM16 | Eleanor Williams reviewed gene: PRDM16: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Dilated and arrhythmogenic cardiomyopathy v2.34 | PRDM16 |
Eleanor Williams Source Expert Review Green was added to PRDM16. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| Dilated and arrhythmogenic cardiomyopathy v2.29 | PRDM16 |
Sarah Leigh Tag Q2_24_promote_green tag was added to gene: PRDM16. Tag Q2_24_NHS_review tag was added to gene: PRDM16. |
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| Dilated and arrhythmogenic cardiomyopathy v2.29 | PRDM16 | Sarah Leigh reviewed gene: PRDM16: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Dilated and arrhythmogenic cardiomyopathy v2.29 | PRDM16 | Sarah Leigh Phenotypes for gene: PRDM16 were changed from to Cardiomyopathy, dilated, 1LL, OMIM:615373; Left ventricular noncompaction 8, OMIM:615373; left ventricular noncompaction 8, MONDO:0014152 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Dilated and arrhythmogenic cardiomyopathy v2.28 | PRDM16 | Sarah Leigh Publications for gene: PRDM16 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Dilated and arrhythmogenic cardiomyopathy v2.25 | PRDM16 | Mike Spiller reviewed gene: PRDM16: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Dilated and arrhythmogenic cardiomyopathy v0.52 | PRDM16 | Ivone Leong reviewed gene: PRDM16: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Dilated and arrhythmogenic cardiomyopathy v0.51 | PRDM16 |
Ivone Leong gene: PRDM16 was added gene: PRDM16 was added to Dilated cardiomyopathy - adult and teen. Sources: NHS GMS,Expert Review Amber Mode of inheritance for gene: PRDM16 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown |
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