Activity
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6 actions
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| DDG2P v6.227 | KLHL20 | Achchuthan Shanmugasundram Mode of pathogenicity for gene: KLHL20 was changed from Other to None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v6.17 | KLHL20 | Achchuthan Shanmugasundram Tag de novo tag was added to gene: KLHL20. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v6.17 | KLHL20 | Achchuthan Shanmugasundram edited their review of gene: KLHL20: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for KLHL20-related developmental disorder with seizures are moderate, monoallelic_autosomal and undetermined (PMID:36214804). The cross-cutting modifier is restricted mutation set. More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P03488.; Changed phenotypes to: KLHL20-related developmental disorder with seizures, MONDO:0100038 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v4.11 | KLHL20 | Arina Puzriakova Tag gene-checked tag was added to gene: KLHL20. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v4.10 | KLHL20 | Achchuthan Shanmugasundram reviewed gene: KLHL20: Rating: GREEN; Mode of pathogenicity: Other; Publications: 36214804; Phenotypes: KLHL20-related developmental disorder with seizures; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v4.9 | KLHL20 |
Achchuthan Shanmugasundram gene: KLHL20 was added gene: KLHL20 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: KLHL20 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: KLHL20 were set to 36214804 Phenotypes for gene: KLHL20 were set to KLHL20-related developmental disorder with seizures Mode of pathogenicity for gene: KLHL20 was set to Other |
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