Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
DDG2P v3.12 | UBR1 | Achchuthan Shanmugasundram reviewed gene: UBR1: Rating: GREEN; Mode of pathogenicity: ; Publications: 19006206, 16311597, 18553553; Phenotypes: JOHANSON-BLIZZARD SYNDROME, OMIM:243800; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
DDG2P v3.11 | UBR1 | Achchuthan Shanmugasundram Publications for gene: UBR1 were updated from 16311597; 19006206; 18553553 to 19006206; 16311597; 18553553 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
DDG2P v0.2 | UBR1 | Rebecca Foulger reviewed gene: UBR1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
DDG2P v0.1 | UBR1 |
Rebecca Foulger gene: UBR1 was added gene: UBR1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: UBR1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: UBR1 were set to 16311597; 19006206; 18553553 Phenotypes for gene: UBR1 were set to JOHANSON-BLIZZARD SYNDROME 243800 |