Activity
| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
2 actions
|
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v6.17 | PARS2 | Achchuthan Shanmugasundram reviewed gene: PARS2: Rating: GREEN; Mode of pathogenicity: ; Publications: 29410512, 29915213, 25629079, 39253392, 37956963, 38469956, 38087948, 28077841, 32514400; Phenotypes: OMIM:618437.0, PARS2-related developmental and epileptic encephalopathy with or without cardiomyopathy, MONDO:0032752; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v6.16 | PARS2 |
Achchuthan Shanmugasundram gene: PARS2 was added gene: PARS2 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: PARS2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PARS2 were set to 29410512; 32514400; 28077841; 39253392; 37956963; 38469956; 25629079; 29915213; 38087948 Phenotypes for gene: PARS2 were set to MONDO:0032752; PARS2-related developmental and epileptic encephalopathy with or without cardiomyopathy; OMIM:618437.0 |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||