Activity
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9 actions
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| Incidentalome v0.142 | RYR2 | Zornitza Stark Marked gene: RYR2 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Incidentalome v0.142 | RYR2 | Zornitza Stark Gene: ryr2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Incidentalome v0.142 | RYR2 | Zornitza Stark Phenotypes for gene: RYR2 were changed from to Ventricular tachycardia, catecholaminergic polymorphic, 1, MIM# 604772; Arrhythmogenic right ventricular dysplasia 2, MIM# 600996; Hypertrophic cardiomyopathy | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Incidentalome v0.141 | RYR2 | Zornitza Stark Publications for gene: RYR2 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Incidentalome v0.140 | RYR2 | Zornitza Stark Mode of inheritance for gene: RYR2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Incidentalome v0.139 | RYR2 | Zornitza Stark Tag cardiac tag was added to gene: RYR2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Incidentalome v0.139 | RYR2 | Zornitza Stark changed review comment from: Gene-disease association assessed as REFUTED by ClinGen: 57 papers reviewed in the process. Some of the original variants were relatively often present in reference alleles from the gnomAD database, clear ARVD diagnosis was not provided, segregation information was not informative and/or CPVT was also present in the family. In a recent review it was also recognized that the observed phenotype in the original three publications that reported RYR2 variants in ARVD for the first time should be catecholamine-induced ventricular tachycardia rather than ARVD, and this gene is no longer considered as ARVD causing (29543670).; to: ARVC: gene-disease association assessed as REFUTED by ClinGen: 57 papers reviewed in the process. Some of the original variants were relatively often present in reference alleles from the gnomAD database, clear ARVD diagnosis was not provided, segregation information was not informative and/or CPVT was also present in the family. In a recent review it was also recognized that the observed phenotype in the original three publications that reported RYR2 variants in ARVD for the first time should be catecholamine-induced ventricular tachycardia rather than ARVD, and this gene is no longer considered as ARVD causing (29543670). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Incidentalome v0.139 | RYR2 |
Zornitza Stark edited their review of gene: RYR2: Added comment: DEFINITVE for CPVT. REFUTED for ARVC. LIMITED for HCM.; Changed rating: GREEN; Changed publications: 11159936, 25041964, 29543670, 11208676, 12093772; Changed phenotypes: Ventricular tachycardia, catecholaminergic polymorphic, 1, MIM# 604772, Arrhythmogenic right ventricular dysplasia 2, MIM# 600996, Hypertrophic cardiomyopathy |
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| Incidentalome v0.0 | RYR2 |
Zornitza Stark gene: RYR2 was added gene: RYR2 was added to Incidentalome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: RYR2 was set to Unknown |
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