Activity
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6 actions
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| DDG2P v6.74 | BANF1 | Achchuthan Shanmugasundram Mode of pathogenicity for gene: BANF1 was changed from Other to None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v6.17 | BANF1 | Achchuthan Shanmugasundram edited their review of gene: BANF1: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for BANF1-related Nestor-Guillermo progeria syndrome are moderate, biallelic_autosomal and loss of function (PMIDs: 21549337, 21932319, 32783369, 36039758, 36842139). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P00506.; Changed publications to: 32783369, 36039758, 21932319, 36842139, 21549337; Changed phenotypes to: BANF1-related Nestor-Guillermo progeria syndrome, OMIM:614008.0, NESTOR-GUILLERMO PROGERIA SYNDROME, OMIM:614008, MONDO:0013523 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | BANF1 | Achchuthan Shanmugasundram reviewed gene: BANF1: Rating: GREEN; Mode of pathogenicity: Other; Publications: 21549337; Phenotypes: NESTOR-GUILLERMO PROGERIA SYNDROME, OMIM:614008; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | BANF1 |
Achchuthan Shanmugasundram Source Expert Review Green was added to BANF1. Mode of pathogenicity for gene BANF1 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 v0.2 | BANF1 | Rebecca Foulger reviewed gene: BANF1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.1 | BANF1 |
Rebecca Foulger gene: BANF1 was added gene: BANF1 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: BANF1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: BANF1 were set to 21549337 Phenotypes for gene: BANF1 were set to NESTOR-GUILLERMO PROGERIA SYNDROME 614008 Mode of pathogenicity for gene: BANF1 was set to Other - please provide details in the comments |
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