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DDG2P v3.12 TRAPPC12 Achchuthan Shanmugasundram reviewed gene: TRAPPC12: Rating: GREEN; Mode of pathogenicity: ; Publications: 28777934; Phenotypes: Progressive Childhood Encephalopathy and Golgi Dysfunction; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.11 TRAPPC12 Achchuthan Shanmugasundram Source Expert Review Green was added to TRAPPC12.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v2.18 TRAPPC12 Arina Puzriakova Mode of inheritance for gene: TRAPPC12 was changed from to BIALLELIC, autosomal or pseudoautosomal
DDG2P v0.3 TRAPPC12 Rebecca Foulger Tag polygenic tag was added to gene: TRAPPC12.
DDG2P v0.3 TRAPPC12 Rebecca Foulger commented on gene: TRAPPC12: polygenic tag added: In DD-G2P download, digenic MOI listed for Progressive Childhood Encephalopathy and Golgi Dysfunction.
DDG2P v0.2 TRAPPC12 Rebecca Foulger reviewed gene: TRAPPC12: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.1 TRAPPC12 Rebecca Foulger gene: TRAPPC12 was added
gene: TRAPPC12 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype
Mode of inheritance for gene: TRAPPC12 was set to
Publications for gene: TRAPPC12 were set to 28777934
Phenotypes for gene: TRAPPC12 were set to Progressive Childhood Encephalopathy and Golgi Dysfunction