Activity
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5 actions
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| DDG2P v6.168 | FRMD5 | Achchuthan Shanmugasundram Mode of pathogenicity for gene: FRMD5 was changed from Other to None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v6.17 | FRMD5 | Achchuthan Shanmugasundram edited their review of gene: FRMD5: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for FRMD5-related developmental disorder are moderate, monoallelic_autosomal and undetermined (PMID:36206744). The cross-cutting modifier is restricted mutation set. More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P03410.; Changed phenotypes to: FRMD5-related developmental disorder, OMIM:620094.0, MONDO:0859305 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.14 | FRMD5 | Achchuthan Shanmugasundram Tag de novo tag was added to gene: FRMD5. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | FRMD5 | Achchuthan Shanmugasundram reviewed gene: FRMD5: Rating: GREEN; Mode of pathogenicity: Other; Publications: 36206744; Phenotypes: FRMD5-related developmental disorder; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | FRMD5 |
Achchuthan Shanmugasundram gene: FRMD5 was added gene: FRMD5 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: FRMD5 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: FRMD5 were set to 36206744 Phenotypes for gene: FRMD5 were set to FRMD5-related developmental disorder Mode of pathogenicity for gene: FRMD5 was set to Other |
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