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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)
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