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DDG2P v3.12 CSPP1 Achchuthan Shanmugasundram reviewed gene: CSPP1: Rating: GREEN; Mode of pathogenicity: ; Publications: 24360808; Phenotypes: JOUBERT SYNDROME WITH OR WITHOUT JEUNE ASPHYXIATING THORACIC DYSTROPHY; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v0.2 CSPP1 Rebecca Foulger reviewed gene: CSPP1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.1 CSPP1 Rebecca Foulger gene: CSPP1 was added
gene: CSPP1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: CSPP1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CSPP1 were set to 24360808
Phenotypes for gene: CSPP1 were set to JOUBERT SYNDROME WITH OR WITHOUT JEUNE ASPHYXIATING THORACIC DYSTROPHY