Activity
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6 actions
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| DDG2P v6.232 | LEMD2 | Achchuthan Shanmugasundram Mode of pathogenicity for gene: LEMD2 was changed from Other to None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v6.17 | LEMD2 | Achchuthan Shanmugasundram edited their review of gene: LEMD2: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for LEMD2-related early progeroid syndrome are moderate, monoallelic_autosomal and undetermined (PMIDs: 30905398, 37867468, 38757373). The cross-cutting modifier is restricted mutation set. More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P02782.; Changed publications to: 37867468, 38757373, 30905398; Changed phenotypes to: Nuclear Envelopathy with Early Progeroid Appearance, LEMD2-related early progeroid syndrome, OMIM:619322.0, MONDO:0859147 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | LEMD2 | Achchuthan Shanmugasundram reviewed gene: LEMD2: Rating: GREEN; Mode of pathogenicity: Other; Publications: 30905398; Phenotypes: Nuclear Envelopathy with Early Progeroid Appearance; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | LEMD2 |
Achchuthan Shanmugasundram Source Expert Review Green was added to LEMD2. Mode of pathogenicity for gene LEMD2 was changed from Other - please provide details in the comments to Other Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| DDG2P v1.130 | LEMD2 | Rebecca Foulger reviewed gene: LEMD2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v1.129 | LEMD2 |
Rebecca Foulger gene: LEMD2 was added gene: LEMD2 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: LEMD2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: LEMD2 were set to 30905398 Phenotypes for gene: LEMD2 were set to Nuclear Envelopathy with Early Progeroid Appearance Mode of pathogenicity for gene: LEMD2 was set to Other - please provide details in the comments |
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