Activity
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4 actions
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| DDG2P v6.238 | LSM11 | Achchuthan Shanmugasundram Mode of pathogenicity for gene: LSM11 was changed from Other to None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v6.17 | LSM11 | Achchuthan Shanmugasundram commented on gene: LSM11: The DDG2P confidence category, allelic requirement and molecular mechanism for LSM11-related Aicardi-Goutieres syndrome are limited, biallelic_autosomal and loss of function (PMID:33230297). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P03531. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v4.10 | LSM11 | Achchuthan Shanmugasundram reviewed gene: LSM11: Rating: RED; Mode of pathogenicity: Other; Publications: 33230297; Phenotypes: LSM11-related Aicardi-Goutieres syndrome; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v4.9 | LSM11 |
Achchuthan Shanmugasundram gene: LSM11 was added gene: LSM11 was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype Mode of inheritance for gene: LSM11 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: LSM11 were set to 33230297 Phenotypes for gene: LSM11 were set to LSM11-related Aicardi-Goutieres syndrome Mode of pathogenicity for gene: LSM11 was set to Other |
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