Activity
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| DDG2P v6.160 | FBXO28 | Achchuthan Shanmugasundram Mode of pathogenicity for gene: FBXO28 was changed from Other to None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v6.17 | FBXO28 | Achchuthan Shanmugasundram edited their review of gene: FBXO28: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for FBXO28-related developmental and epileptic encephalopathy with profound intellectual disability are definitive, monoallelic_autosomal and undetermined (PMIDs: 30160831, 33280099, 37543484). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P03080.; Changed publications to: 33280099, 37543484, 30160831; Changed phenotypes to: FBXO28-related developmental and epileptic encephalopathy with profound intellectual disability, MONDO:0030695, FBX028-related developmental and epileptic encephalopathy with profound intellectual disability, OMIM:619777.0 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | FBXO28 | Achchuthan Shanmugasundram reviewed gene: FBXO28: Rating: GREEN; Mode of pathogenicity: Other; Publications: 30160831, 33280099; Phenotypes: FBX028-related developmental and epileptic encephalopathy with profound intellectual disability; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | FBXO28 |
Achchuthan Shanmugasundram gene: FBXO28 was added gene: FBXO28 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: FBXO28 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: FBXO28 were set to 30160831; 33280099 Phenotypes for gene: FBXO28 were set to FBX028-related developmental and epileptic encephalopathy with profound intellectual disability Mode of pathogenicity for gene: FBXO28 was set to Other |
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