| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Arrhythmogenic right ventricular cardiomyopathy v1.49 | PLN | Ivone Leong Publications for gene: PLN were set to 22820313; 28102477 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Arrhythmogenic right ventricular cardiomyopathy v1.45 | PLN | Ivone Leong reviewed gene: PLN: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Arrhythmogenic right ventricular cardiomyopathy v1.36 | PLN | James Eden reviewed gene: PLN: Rating: GREEN; Mode of pathogenicity: None; Publications: 23595706, 23568436, 24909667, 25700660, 30763825; Phenotypes: Cardiomyopathy, dilated, 1P 609909, Cardiomyopathy, hypertrophic, 18 613874; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Arrhythmogenic right ventricular cardiomyopathy v1.36 | PLN | Matthew Edwards reviewed gene: PLN: Rating: GREEN; Mode of pathogenicity: None; Publications: 22820313; Phenotypes: DCM, HCM; Mode of inheritance: None; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Arrhythmogenic right ventricular cardiomyopathy v1.29 | PLN | Ivone Leong Phenotypes for gene: PLN were changed from to Cardiomyopathy, dilated, 1P (609909); Cardiomyopathy, hypertrophic, 18 (613874) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Arrhythmogenic right ventricular cardiomyopathy v1.23 | PLN | Rebecca Whittington commented on gene: PLN: Cardiomyopathy, dilated, 1P (609909); Cardiomyopathy, hypertrophic, 18 (613874) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Arrhythmogenic right ventricular cardiomyopathy v1.22 | PLN | Rebecca Whittington commented on gene: PLN: DCM/HCM on OMIM - Not ARVC. HGMD - HCM/DCM. PubMED: 29567486 - core gene. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Arrhythmogenic right ventricular cardiomyopathy v1.21 | PLN | Rebecca Whittington reviewed gene: PLN: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Arrhythmogenic right ventricular cardiomyopathy v1.20 | PLN | Ellen McDonagh Marked gene: PLN as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Arrhythmogenic right ventricular cardiomyopathy v1.20 | PLN | Ellen McDonagh Added comment: Comment when marking as ready: It was confirmed in the NHSE GMS Cardiology Specialist Group meeting call on 25th January 2019 that this gene should remain Green. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Arrhythmogenic right ventricular cardiomyopathy v1.20 | PLN | Ellen McDonagh Gene: pln has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Arrhythmogenic right ventricular cardiomyopathy v1.20 | PLN |
Ellen McDonagh Source South West GLH was added to PLN. Mode of inheritance for gene PLN was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted |
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| Arrhythmogenic right ventricular cardiomyopathy v1.19 | PLN | Ellen McDonagh reviewed gene: PLN: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Arrhythmogenic right ventricular cardiomyopathy v1.18 | PLN | Ellen McDonagh Source London South GLH was added to PLN. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Arrhythmogenic right ventricular cardiomyopathy v1.12 | PLN | Oxford Medical Genetics Laboratory commented on gene: PLN: PLN Arg14del varaint reported to be a founder variant in Netherlands and reported in indiviudals with DCM and ARVC. We have not detected this variant in our ARVC cohort (n=121 individuals screened) or DCM cohort (n=1022). Therefore certianly a rare cause of ARVC. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Arrhythmogenic right ventricular cardiomyopathy v1.11 | PLN | Ellen McDonagh Tag founder-effect tag was added to gene: PLN. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Arrhythmogenic right ventricular cardiomyopathy v1.11 | PLN | Ellen McDonagh Publications for gene: PLN were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Arrhythmogenic right ventricular cardiomyopathy v1.10 | PLN | Oxford Medical Genetics Laboratory edited their review of gene: PLN: Added comment: PLN Arg14del varaint reported to be a founder variant in Netherlands and reported in indiviudals with DCM and ARVC. We have not detected this variant in our ARVC cohort (n=121 individuals screened) or DCM cohort (n=1022). Therefore certianly a rare cause of ARVC.; Changed publications: Publications supporting role of Arg14del founder varaint in ARVC - PMID: 22820313, PMID: 28102477; Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Set current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Arrhythmogenic right ventricular cardiomyopathy v1.9 | PLN |
Ellen McDonagh Source Wessex and West Midlands GLH was added to PLN. Rating Changed from Green List (high evidence) to Green List (high evidence) |
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