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| DDG2P v4.10 | PAX1 | Achchuthan Shanmugasundram edited their review of gene: PAX1: Added comment: The DDG2P confidence category for the disease OTOFACIOCERVICAL SYNDROME, OMIM:166780 is strong. The allelic requirement and mutation consequence are biallelic_autosomal and absent gene product (PMID: 28657137;23851939;29681087). The DDG2P confidence category for the disease PAX1-related oculo-auriculo-vertebral syndrome is limited. The allelic requirement and mutation consequence are monoallelic_autosomal and absent gene product.; Changed publications to: 28657137, 29681087, 23851939; Changed phenotypes to: OTOFACIOCERVICAL SYNDROME, OMIM:166780, PAX1-related oculo-auriculo-vertebral syndrome | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | PAX1 | Achchuthan Shanmugasundram reviewed gene: PAX1: Rating: GREEN; Mode of pathogenicity: ; Publications: 23851939, 28657137, 29681087; Phenotypes: OTOFACIOCERVICAL SYNDROME, OMIM:166780; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | PAX1 |
Achchuthan Shanmugasundram gene: PAX1 was added gene: PAX1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: PAX1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PAX1 were set to 23851939; 28657137; 29681087 Phenotypes for gene: PAX1 were set to OTOFACIOCERVICAL SYNDROME, OMIM:166780 |
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