Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
DDG2P v3.12 | PRKG2 | Achchuthan Shanmugasundram reviewed gene: PRKG2: Rating: GREEN; Mode of pathogenicity: ; Publications: 34782440, 36504352, 33106379; Phenotypes: PRKG2-related acromesomelic dysplasia and spondylometaphyseal dysplasia, OMIM:619636; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
DDG2P v3.11 | PRKG2 |
Achchuthan Shanmugasundram gene: PRKG2 was added gene: PRKG2 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: PRKG2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PRKG2 were set to 34782440; 36504352; 33106379 Phenotypes for gene: PRKG2 were set to PRKG2-related acromesomelic dysplasia and spondylometaphyseal dysplasia, OMIM:619636 |