Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
DDG2P v3.12 | FRAS1 | Achchuthan Shanmugasundram reviewed gene: FRAS1: Rating: GREEN; Mode of pathogenicity: ; Publications: 15838507, 12766769, 18671281, 17163535, 18203166, 16894541; Phenotypes: FRASER SYNDROME, OMIM:219000; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
DDG2P v3.11 | FRAS1 | Achchuthan Shanmugasundram Publications for gene: FRAS1 were updated from 12766769; 15838507; 17163535; 18203166; 16894541; 18671281 to 15838507; 12766769; 18671281; 17163535; 18203166; 16894541 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
DDG2P v0.2 | FRAS1 | Rebecca Foulger reviewed gene: FRAS1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
DDG2P v0.1 | FRAS1 |
Rebecca Foulger gene: FRAS1 was added gene: FRAS1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: FRAS1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: FRAS1 were set to 12766769; 15838507; 17163535; 18203166; 16894541; 18671281 Phenotypes for gene: FRAS1 were set to FRASER SYNDROME 219000 |