| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| DDG2P v3.12 | AAAS | Achchuthan Shanmugasundram reviewed gene: AAAS: Rating: GREEN; Mode of pathogenicity: ; Publications: 11701718, 11062474, 15173230, 11159947, 18628786; Phenotypes: ACHALASIA-ADDISONIANISM-ALACRIMA SYNDROME, OMIM:231550; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | AAAS | Achchuthan Shanmugasundram Publications for gene: AAAS were updated from 11701718; 11159947; 18628786; 15173230; 11062474 to 11701718; 11062474; 15173230; 11159947; 18628786 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | AAAS | Rebecca Foulger reviewed gene: AAAS: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.1 | AAAS |
Rebecca Foulger gene: AAAS was added gene: AAAS was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: AAAS was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: AAAS were set to 11701718; 11159947; 18628786; 15173230; 11062474 Phenotypes for gene: AAAS were set to ACHALASIA-ADDISONIANISM-ALACRIMA SYNDROME 231550 |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||