Activity
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11 actions
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| DDG2P v6.373 | TAF13 | Achchuthan Shanmugasundram Mode of pathogenicity for gene: TAF13 was changed from Other to None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v6.17 | TAF1C | Achchuthan Shanmugasundram reviewed gene: TAF1C: Rating: RED; Mode of pathogenicity: ; Publications: 32779182, 40371665; Phenotypes: TAF1C-related neurodevelopmental disorder; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v6.17 | TAF13 | Achchuthan Shanmugasundram edited their review of gene: TAF13: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for TAF13-related intellectual disability and microcephaly are strong, biallelic_autosomal and undetermined (PMID:28257693). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P02249.; Changed phenotypes to: MONDO:0044313, TAF13-related intellectual disability and microcephaly, OMIM:617432.0, Autosomal-Recessive Intellectual Disability and Microcephaly | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v6.16 | TAF1C |
Achchuthan Shanmugasundram gene: TAF1C was added gene: TAF1C was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype Mode of inheritance for gene: TAF1C was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TAF1C were set to 40371665; 32779182 Phenotypes for gene: TAF1C were set to TAF1C-related neurodevelopmental disorder |
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| DDG2P v3.12 | TAF13 | Achchuthan Shanmugasundram reviewed gene: TAF13: Rating: GREEN; Mode of pathogenicity: Other; Publications: 28257693; Phenotypes: Autosomal-Recessive Intellectual Disability and Microcephaly; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | TAF1 | Achchuthan Shanmugasundram reviewed gene: TAF1: Rating: GREEN; Mode of pathogenicity: ; Publications: 26637982; Phenotypes: Dysmorphic Features, Intellectual Disability, and Neurological Manifestations; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | TAF13 |
Achchuthan Shanmugasundram Source Expert Review Green was added to TAF13. Mode of pathogenicity for gene TAF13 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 | TAF13 | Rebecca Foulger reviewed gene: TAF13: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | TAF1 | Rebecca Foulger reviewed gene: TAF1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.1 | TAF13 |
Rebecca Foulger gene: TAF13 was added gene: TAF13 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: TAF13 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TAF13 were set to 28257693 Phenotypes for gene: TAF13 were set to Autosomal-Recessive Intellectual Disability and Microcephaly Mode of pathogenicity for gene: TAF13 was set to Other - please provide details in the comments |
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| DDG2P v0.1 | TAF1 |
Rebecca Foulger gene: TAF1 was added gene: TAF1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: TAF1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Publications for gene: TAF1 were set to 26637982 Phenotypes for gene: TAF1 were set to Dysmorphic Features, Intellectual Disability, and Neurological Manifestations |
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