Activity
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6 actions
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| DDG2P v6.378 | TFRC | Achchuthan Shanmugasundram Mode of pathogenicity for gene: TFRC was changed from Other to None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v6.17 | TFRC | Achchuthan Shanmugasundram edited their review of gene: TFRC: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for TFRC-related combined immunodeficiency are limited, biallelic_autosomal and undetermined (PMID:26642240). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P01748.; Changed phenotypes to: Combined immunodeficiency, TFRC-related combined immunodeficiency, MONDO:0014760, OMIM:616740.0 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | TFRC | Achchuthan Shanmugasundram reviewed gene: TFRC: Rating: RED; Mode of pathogenicity: Other; Publications: 26642240; Phenotypes: Combined immunodeficiency; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | TFRC | Achchuthan Shanmugasundram Mode of pathogenicity for gene TFRC was changed from Other - please provide details in the comments to Other | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | TFRC | Rebecca Foulger reviewed gene: TFRC: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.1 | TFRC |
Rebecca Foulger gene: TFRC was added gene: TFRC was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype Mode of inheritance for gene: TFRC was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TFRC were set to 26642240 Phenotypes for gene: TFRC were set to Combined immunodeficiency Mode of pathogenicity for gene: TFRC was set to Other - please provide details in the comments |
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