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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 |