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| DDG2P v3.45 | IFIH1 | Achchuthan Shanmugasundram Phenotypes for gene: IFIH1 were changed from AICARDI-GOUTIERES SYNDROME 7, OMIM:615846; SINGLETON-MERTEN SYNDROME, OMIM:182250 to AICARDI-GOUTIERES SYNDROME 7, OMIM:615846; SINGLETON-MERTEN SYNDROME, OMIM:182250 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.45 | IFIH1 | Achchuthan Shanmugasundram Phenotypes for gene: IFIH1 were changed from AICARDI-GOUTIERES SYNDROME 7, OMIM:615846; SINGLETON-MERTEN SYNDROME, OMIM:182250 to AICARDI-GOUTIERES SYNDROME 7, OMIM:615846; SINGLETON-MERTEN SYNDROME, OMIM:182250 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.45 | IFIH1 | Achchuthan Shanmugasundram Phenotypes for gene: IFIH1 were changed from AICARDI-GOUTIERES SYNDROME 7 615846; SINGLETON-MERTEN SYNDROME 182250 to AICARDI-GOUTIERES SYNDROME 7, OMIM:615846; SINGLETON-MERTEN SYNDROME, OMIM:182250 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.44 | IFIH1 | Achchuthan Shanmugasundram Tag watchlist was removed from gene: IFIH1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.44 | IFIH1 |
Achchuthan Shanmugasundram changed review comment from: The DDG2P confidence category for the disease AICARDI-GOUTIERES SYNDROME 7, OMIM:615846 is definitive. The allelic requirement and mutation consequence are monoallelic_autosomal and altered gene product structure (PMID:24995871). The DDG2P confidence category for the disease SINGLETON-MERTEN SYNDROME, OMIM:182250 is strong. The allelic requirement and mutation consequence are monoallelic_autosomal and altered gene product structure (PMID:25620204).; to: The DDG2P confidence category for the disease AICARDI-GOUTIERES SYNDROME 7, OMIM:615846 is definitive. The allelic requirement and mutation consequence are monoallelic_autosomal and altered gene product structure (PMID:24995871). The DDG2P confidence category for the disease SINGLETON-MERTEN SYNDROME, OMIM:182250 is strong. The allelic requirement and mutation consequence are monoallelic_autosomal and altered gene product structure (PMID:25620204). |
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| DDG2P v3.12 | IFIH1 | Achchuthan Shanmugasundram reviewed gene: IFIH1: Rating: GREEN; Mode of pathogenicity: Other; Publications: 24995871, 25620204; Phenotypes: AICARDI-GOUTIERES SYNDROME 7, OMIM:615846, SINGLETON-MERTEN SYNDROME, OMIM:182250; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | IFIH1 |
Achchuthan Shanmugasundram Mode of pathogenicity for gene IFIH1 was changed from Other - please provide details in the comments to Other Publications for gene: IFIH1 were updated from 25620204 to 24995871; 25620204 |
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| DDG2P v0.73 | IFIH1 | Rebecca Foulger Classified gene: IFIH1 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.73 | IFIH1 | Rebecca Foulger Gene: ifih1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.55 | IFIH1 | Rebecca Foulger edited their review of gene: IFIH1: Added comment: Multiple DD-Gene2Phenotype ratings (confirmed; probable). Changed rating to Green to reflect highest DD-G2P Disease confidence: confirmed for AICARDI-GOUTIERES SYNDROME 7.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.4 | IFIH1 | Rebecca Foulger Tag watchlist tag was added to gene: IFIH1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.4 | IFIH1 | Rebecca Foulger commented on gene: IFIH1: Added watchlist tag to highlight different DD-G2P ratings for different gene:disorder associations. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | IFIH1 | Rebecca Foulger reviewed gene: IFIH1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.1 | IFIH1 |
Rebecca Foulger Added phenotypes SINGLETON-MERTEN SYNDROME 182250 for gene: IFIH1 Publications for gene IFIH1 were changed from 24995871 to 25620204 |
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| DDG2P v0.1 | IFIH1 |
Rebecca Foulger gene: IFIH1 was added gene: IFIH1 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: IFIH1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: IFIH1 were set to 24995871 Phenotypes for gene: IFIH1 were set to AICARDI-GOUTIERES SYNDROME 7 615846 Mode of pathogenicity for gene: IFIH1 was set to Other - please provide details in the comments |
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