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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) |
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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 |
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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 |