Activity
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14 actions
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| DDG2P v6.423 | CHRNA2 | Achchuthan Shanmugasundram Mode of pathogenicity for gene: CHRNA2 was changed from Other to None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v6.17 | CHRNA2 | Achchuthan Shanmugasundram edited their review of gene: CHRNA2: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for CHRNA2-related nocturnal frontal lobe epilepsy are strong, monoallelic_autosomal and undetermined (PMIDs: 16826524, 25770198, 25847220, 30809122). The cross-cutting modifier is potential secondary finding. More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P00766.; Changed rating: GREEN; Changed publications to: 30809122, 16826524, 25770198, 25847220; Changed phenotypes to: CHRNA2-related nocturnal frontal lobe epilepsy, OMIM:610353.0, CHRNA2-RELATED NOCTURNAL FRONTAL LOBE EPILEPSY, AUTOSOMAL DOMINANT, OMIM:291607, MONDO:0012474 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v6.16 | CHRNA2 |
Achchuthan Shanmugasundram Source Expert Review Green was added to CHRNA2. Rating Changed from Red List (low evidence) to Green List (high evidence) |
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| DDG2P v3.66 | CHRNA2 | Achchuthan Shanmugasundram Phenotypes for gene: CHRNA2 were changed from CHRNA2-RELATED NOCTURNAL FRONTAL LOBE EPILEPSY, AUTOSOMAL DOMINANT, OMIM:291607 to CHRNA2-RELATED NOCTURNAL FRONTAL LOBE EPILEPSY, AUTOSOMAL DOMINANT, OMIM:291607 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.66 | CHRNA2 | Achchuthan Shanmugasundram Phenotypes for gene: CHRNA2 were changed from CHRNA2-RELATED NOCTURNAL FRONTAL LOBE EPILEPSY, AUTOSOMAL DOMINANT 291607; NOCTURNAL FRONTAL LOBE EPILEPSY, AUTOSOMAL DOMINANT 117426 to CHRNA2-RELATED NOCTURNAL FRONTAL LOBE EPILEPSY, AUTOSOMAL DOMINANT, OMIM:291607 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.65 | CHRNA2 | Achchuthan Shanmugasundram Tag watchlist was removed from gene: CHRNA2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | CHRNA2 | Achchuthan Shanmugasundram reviewed gene: CHRNA2: Rating: RED; Mode of pathogenicity: Other; Publications: 25770198, 25847220, 16826524, 30809122; Phenotypes: CHRNA2-RELATED NOCTURNAL FRONTAL LOBE EPILEPSY, AUTOSOMAL DOMINANT, OMIM:291607; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | CHRNA2 |
Achchuthan Shanmugasundram Source Expert Review Red was added to CHRNA2. Mode of pathogenicity for gene CHRNA2 was changed from Other - please provide details in the comments to Other Publications for gene: CHRNA2 were updated from to 25770198; 30809122; 16826524; 25847220 Rating Changed from Amber List (moderate evidence) to Red List (low evidence) |
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| DDG2P v0.95 | CHRNA2 | Rebecca Foulger commented on gene: CHRNA2: Kept rating as Amber to reflect DDG2P Disease confidence of 'child IF' for CHRNA2-RELATED NOCTURNAL FRONTAL LOBE EPILEPSY, AUTOSOMAL DOMINANT. CHRNA2 also rated 'possible' for NOCTURNAL FRONTAL LOBE EPILEPSY, AUTOSOMAL DOMINANT. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.4 | CHRNA2 | Rebecca Foulger Tag watchlist tag was added to gene: CHRNA2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.4 | CHRNA2 | Rebecca Foulger commented on gene: CHRNA2: Added watchlist tag to highlight different DD-G2P ratings for different gene:disorder associations. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | CHRNA2 | Rebecca Foulger reviewed gene: CHRNA2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.1 | CHRNA2 | Rebecca Foulger Added phenotypes NOCTURNAL FRONTAL LOBE EPILEPSY, AUTOSOMAL DOMINANT 117426 for gene: CHRNA2 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.1 | CHRNA2 |
Rebecca Foulger gene: CHRNA2 was added gene: CHRNA2 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: CHRNA2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: CHRNA2 were set to CHRNA2-RELATED NOCTURNAL FRONTAL LOBE EPILEPSY, AUTOSOMAL DOMINANT 291607 Mode of pathogenicity for gene: CHRNA2 was set to Other - please provide details in the comments |
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