Activity
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11 actions
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| DDG2P v6.34 | AFF3 | Achchuthan Shanmugasundram Mode of pathogenicity for gene: AFF3 was changed from Other to None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v6.17 | AFF3 | Achchuthan Shanmugasundram edited their review of gene: AFF3: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for AFF3-related KINSSHIP syndrome are strong, monoallelic_autosomal and undetermined (PMIDs: 33961779, 36576140, 38811945). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P01978. The DDG2P confidence category, allelic requirement and molecular mechanism for AFF3-related intellectual disability are moderate, monoallelic_autosomal and undetermined (PMID:38811945). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P03581.; Changed publications to: 33961779, 38811945, 36576140; Changed phenotypes to: AFF3-related intellectual disability, MONDO:0001071, AFF3-related KINSSHIP syndrome, OMIM:619297, AFF3-related KINSSHIP syndrome, OMIM:619297.0, MONDO:0851095 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v5.44 | AFF3 | Achchuthan Shanmugasundram changed review comment from: The DDG2P confidence category for the disease AFF3-related intellectual disability is moderate. The allelic requirement and mutation consequence are monoallelic_autosomal and decreased gene product level (PMID: 38811945). The DDG2P confidence category for the disease AFF3-related KINSSHIP syndrome, OMIM:619297 is strong. The allelic requirement and mutation consequence are monoallelic_autosomal and altered gene product structure (PMID: 33961779;36576140;38811945).; to: The DDG2P confidence category for the disease AFF3-related intellectual disability is moderate. The allelic requirement and mutation consequence are monoallelic_autosomal and decreased gene product level. It shows incomplete penetrance (PMID: 38811945). The DDG2P confidence category for the disease AFF3-related KINSSHIP syndrome, OMIM:619297 is strong. The allelic requirement and mutation consequence are monoallelic_autosomal and altered gene product structure (PMID: 33961779;36576140;38811945). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v5.5 | AFF3 | Achchuthan Shanmugasundram Phenotypes for gene: AFF3 were changed from Skeletal dysplasia with severe neurological disease to AFF3-related KINSSHIP syndrome, OMIM:619297; AFF3-related intellectual disability | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v5.4 | AFF3 | Achchuthan Shanmugasundram Publications for gene: AFF3 were set to 36576140; 33961779; 100000 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v5.3 | AFF3 | Achchuthan Shanmugasundram edited their review of gene: AFF3: Changed phenotypes to: AFF3-related KINSSHIP syndrome, OMIM:619297, AFF3-related intellectual disability | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v5.3 | AFF3 | Achchuthan Shanmugasundram edited their review of gene: AFF3: Added comment: The DDG2P confidence category for the disease AFF3-related intellectual disability is moderate. The allelic requirement and mutation consequence are monoallelic_autosomal and decreased gene product level (PMID: 38811945). The DDG2P confidence category for the disease AFF3-related KINSSHIP syndrome, OMIM:619297 is strong. The allelic requirement and mutation consequence are monoallelic_autosomal and altered gene product structure (PMID: 33961779;36576140;38811945).; Changed publications to: 38811945, 33961779, 36576140; Changed phenotypes to: Skeletal dysplasia with severe neurological disease, AFF3-related KINSSHIP syndrome, OMIM:619297, AFF3-related intellectual disability | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | AFF3 | Achchuthan Shanmugasundram reviewed gene: AFF3: Rating: GREEN; Mode of pathogenicity: Other; Publications: 36576140, 33961779; Phenotypes: Skeletal dysplasia with severe neurological disease; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | AFF3 |
Achchuthan Shanmugasundram Source Expert Review Green was added to AFF3. Mode of pathogenicity for gene AFF3 was changed from Other - please provide details in the comments to Other Publications for gene: AFF3 were updated from 100000 to 36576140; 33961779; 100000 Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| DDG2P v0.2 | AFF3 | Rebecca Foulger reviewed gene: AFF3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.1 | AFF3 |
Rebecca Foulger gene: AFF3 was added gene: AFF3 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: AFF3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: AFF3 were set to 100000 Phenotypes for gene: AFF3 were set to Skeletal dysplasia with severe neurological disease Mode of pathogenicity for gene: AFF3 was set to Other - please provide details in the comments |
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