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DDG2P v4.10 TOR1A Achchuthan Shanmugasundram reviewed gene: TOR1A: Rating: GREEN; Mode of pathogenicity: ; Publications: 30244176, 33175450, 33832800, 28516161, 36757831; Phenotypes: TOR1A-associated arthrogryposis multiplex congenita (AR); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v4.9 TOR1A Achchuthan Shanmugasundram gene: TOR1A was added
gene: TOR1A was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: TOR1A was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TOR1A were set to 30244176; 33175450; 33832800; 28516161; 36757831
Phenotypes for gene: TOR1A were set to TOR1A-associated arthrogryposis multiplex congenita (AR)