Activity
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6 actions
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| DDG2P v6.200 | HOXB1 | Achchuthan Shanmugasundram Mode of pathogenicity for gene: HOXB1 was changed from Other to None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v6.17 | HOXB1 | Achchuthan Shanmugasundram edited their review of gene: HOXB1: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for HOXB1-related facial paresis, congenital are strong, biallelic_autosomal and undetermined (PMID:22770981). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P00821.; Changed phenotypes to: FACIAL PARESIS, HEREDITARY CONGENITAL, 3, OMIM:614744, MONDO:0013880, HOXB1-related facial paresis, congenital, OMIM:614744.0 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | HOXB1 | Achchuthan Shanmugasundram reviewed gene: HOXB1: Rating: GREEN; Mode of pathogenicity: Other; Publications: 22770981; Phenotypes: FACIAL PARESIS, HEREDITARY CONGENITAL, 3, OMIM:614744; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | HOXB1 |
Achchuthan Shanmugasundram Source Expert Review Green was added to HOXB1. Mode of pathogenicity for gene HOXB1 was changed from Other - please provide details in the comments to Other Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| DDG2P v0.2 | HOXB1 | Rebecca Foulger reviewed gene: HOXB1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.1 | HOXB1 |
Rebecca Foulger gene: HOXB1 was added gene: HOXB1 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: HOXB1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: HOXB1 were set to 22770981 Phenotypes for gene: HOXB1 were set to FACIAL PARESIS, HEREDITARY CONGENITAL, 3 614744 Mode of pathogenicity for gene: HOXB1 was set to Other - please provide details in the comments |
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