Activity
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4 actions
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| DDG2P v6.404 | UHRF1 | Achchuthan Shanmugasundram Mode of pathogenicity for gene: UHRF1 was changed from Other to None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v6.17 | UHRF1 | Achchuthan Shanmugasundram edited their review of gene: UHRF1: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for UHRF1-related immunodeficiency-centromeric instability-facial anomalies syndrome are limited, biallelic_autosomal and undetermined (PMID:36458887). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P03457.; Changed phenotypes to: MONDO:0000133, UHRF1-related immunodeficiency-centromeric instability-facial anomalies syndrome | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | UHRF1 | Achchuthan Shanmugasundram reviewed gene: UHRF1: Rating: RED; Mode of pathogenicity: Other; Publications: 36458887; Phenotypes: UHRF1-related immunodeficiency-centromeric instability-facial anomalies syndrome; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | UHRF1 |
Achchuthan Shanmugasundram gene: UHRF1 was added gene: UHRF1 was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Red Mode of inheritance for gene: UHRF1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: UHRF1 were set to 36458887 Phenotypes for gene: UHRF1 were set to UHRF1-related immunodeficiency-centromeric instability-facial anomalies syndrome Mode of pathogenicity for gene: UHRF1 was set to Other |
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