| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Cardiomyopathy_Paediatric v1.296 | RYR2 | Zornitza Stark Marked gene: RYR2 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cardiomyopathy_Paediatric v1.296 | RYR2 | Zornitza Stark Gene: ryr2 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cardiomyopathy_Paediatric v1.296 | RYR2 | Zornitza Stark Phenotypes for gene: RYR2 were changed from Ventricular Tachycardia, Catecholaminergic Polymorphic, 1, With Or Without Atrial Dysfunction And/or Dilated Cardiomyopathy; Arrhythmogenic right ventricular dysplasia 2, 600996 to dilated cardiomyopathy MONDO:0005021; hypertrophic cardiomyopathy MONDO:0005045; arrhythmogenic right ventricular cardiomyopathy MONDO:0016587 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cardiomyopathy_Paediatric v1.295 | RYR2 | Zornitza Stark Publications for gene: RYR2 were set to http://www.ncbi.nlm.nih.gov/books/NBK1131/ | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cardiomyopathy_Paediatric v1.294 | RYR2 | Zornitza Stark Classified gene: RYR2 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cardiomyopathy_Paediatric v1.294 | RYR2 | Zornitza Stark Gene: ryr2 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cardiomyopathy_Paediatric v1.293 | RYR2 | Zornitza Stark edited their review of gene: RYR2: Added comment: LIMITED by ClinGen for association with DCM and HCM. REFUTED for ARVC.; Changed rating: RED; Changed phenotypes: dilated cardiomyopathy MONDO:0005021, hypertrophic cardiomyopathy MONDO:0005045, arrhythmogenic right ventricular cardiomyopathy MONDO:0016587; Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cardiomyopathy_Paediatric v1.0 | RYR2 | Gene migrated from ENSG00000198626 to ENSG00000198626 (gene set migration) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cardiomyopathy_Paediatric v0.0 | RYR2 |
Zornitza Stark gene: RYR2 was added gene: RYR2 was added to Cardiomyopathy_Paediatric. Sources: NHS GMS,South West GLH,Expert Review Green Mode of inheritance for gene: RYR2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: RYR2 were set to http://www.ncbi.nlm.nih.gov/books/NBK1131/ Phenotypes for gene: RYR2 were set to Ventricular Tachycardia, Catecholaminergic Polymorphic, 1, With Or Without Atrial Dysfunction And/or Dilated Cardiomyopathy; Arrhythmogenic right ventricular dysplasia 2, 600996 |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||