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| DDG2P v6.327 | RYR2 | Achchuthan Shanmugasundram Mode of pathogenicity for gene: RYR2 was changed from Other to None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v6.17 | RYR2 | Achchuthan Shanmugasundram edited their review of gene: RYR2: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for RYR2-related catecholaminergic polymorphic ventricular tachycardia and intellectual disability are limited, monoallelic_autosomal and undetermined (PMIDs: 11157710, 15544013, 15544015, 15720454, 16084945, 16188589, 16272262, 17875969, 19781797, 19926015, 21126784, 21652165, 22222782, 22334434, 22519458, 30170228). The cross-cutting modifier is potential secondary finding. More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P03201.; Changed publications to: 16188589, 30170228, 15544013, 16084945, 22222782, 15544015, 22334434, 19926015, 15720454, 17875969, 19781797, 21126784, 16272262, 21652165, 22519458, 11157710; Changed phenotypes to: RYR2-related catecholaminergic polymorphic ventricular tachycardia and intellectual disability, RYR2-related Catecholaminergic polymorphic ventricular tachycardia and intellectual disability | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | RYR2 | Achchuthan Shanmugasundram reviewed gene: RYR2: Rating: RED; Mode of pathogenicity: Other; Publications: 30170228; Phenotypes: RYR2-related Catecholaminergic polymorphic ventricular tachycardia and intellectual disability; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | RYR2 |
Achchuthan Shanmugasundram gene: RYR2 was added gene: RYR2 was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Red Mode of inheritance for gene: RYR2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: RYR2 were set to 30170228 Phenotypes for gene: RYR2 were set to RYR2-related Catecholaminergic polymorphic ventricular tachycardia and intellectual disability Mode of pathogenicity for gene: RYR2 was set to Other |
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