Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
DDG2P v3.12 | MASP1 | Achchuthan Shanmugasundram reviewed gene: MASP1: Rating: GREEN; Mode of pathogenicity: ; Publications: 21258343, 21035106, 17937425; Phenotypes: 3MC SYNDROME 1, OMIM:257920; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
DDG2P v3.11 | MASP1 | Achchuthan Shanmugasundram Publications for gene: MASP1 were updated from 17937425; 21258343; 21035106 to 21258343; 21035106; 17937425 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
DDG2P v0.2 | MASP1 | Rebecca Foulger reviewed gene: MASP1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
DDG2P v0.1 | MASP1 |
Rebecca Foulger gene: MASP1 was added gene: MASP1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: MASP1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MASP1 were set to 17937425; 21258343; 21035106 Phenotypes for gene: MASP1 were set to 3MC SYNDROME 1 257920 |