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| DDG2P v6.76 | BCORL1 | Achchuthan Shanmugasundram Mode of pathogenicity for gene: BCORL1 was changed from Other to None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v6.17 | BCORL1 | Achchuthan Shanmugasundram edited their review of gene: BCORL1: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for BCORL1-related Shukla-Vernon syndrome are limited, monoallelic_X_hemizygous and undetermined (PMIDs: 24123876, 30941876, 33810051, 34400773). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P02922.; Changed publications to: 30941876, 33810051, 24123876, 34400773; Changed phenotypes to: MONDO:0026727, BCORL1-related Shukla-Vernon syndrome, OMIM:301029.0, Shukla-Vernon Syndrome | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | BCORL1 | Achchuthan Shanmugasundram reviewed gene: BCORL1: Rating: RED; Mode of pathogenicity: Other; Publications: 30941876, 33810051, 34400773, 24123876; Phenotypes: Shukla-Vernon Syndrome; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | BCORL1 |
Achchuthan Shanmugasundram gene: BCORL1 was added gene: BCORL1 was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Red Mode of inheritance for gene: BCORL1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Publications for gene: BCORL1 were set to 30941876; 33810051; 34400773; 24123876 Phenotypes for gene: BCORL1 were set to Shukla-Vernon Syndrome Mode of pathogenicity for gene: BCORL1 was set to Other |
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