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DDG2P v3.12 SDCCAG8 Achchuthan Shanmugasundram reviewed gene: SDCCAG8: Rating: GREEN; Mode of pathogenicity: ; Publications: 20835237, 22626039; Phenotypes: SENIOR-LOKEN SYNDROME 7, OMIM:613615; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.12 DCC Achchuthan Shanmugasundram reviewed gene: DCC: Rating: GREEN; Mode of pathogenicity: ; Publications: 28250456; Phenotypes: Midline-bridging neuronal commissure disruption, horizontal gaze palsy, scoliosis, and intellectual disability; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
DDG2P v3.11 SDCCAG8 Achchuthan Shanmugasundram Publications for gene: SDCCAG8 were updated from 20835237 to 20835237; 22626039
DDG2P v3.11 DCC Achchuthan Shanmugasundram Source Expert Review Green was added to DCC.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
DDG2P v0.2 SDCCAG8 Rebecca Foulger reviewed gene: SDCCAG8: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.2 DCC Rebecca Foulger reviewed gene: DCC: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.1 SDCCAG8 Rebecca Foulger gene: SDCCAG8 was added
gene: SDCCAG8 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: SDCCAG8 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SDCCAG8 were set to 20835237
Phenotypes for gene: SDCCAG8 were set to SENIOR-LOKEN SYNDROME 7 613615
DDG2P v0.1 DCC Rebecca Foulger gene: DCC was added
gene: DCC was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype
Mode of inheritance for gene: DCC was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: DCC were set to 28250456
Phenotypes for gene: DCC were set to Midline-bridging neuronal commissure disruption, horizontal gaze palsy, scoliosis, and intellectual disability