Activity
| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
2 actions
|
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v6.17 | PISD | Achchuthan Shanmugasundram reviewed gene: PISD: Rating: RED; Mode of pathogenicity: ; Publications: 31263216, 30858161, 30488656, 38801004; Phenotypes: OMIM:618889.0, MONDO:0030045, PISD-related spondyloepimetaphyseal dysplasia with large epiphyses and disturbed mitochondrial function; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v6.16 | PISD |
Achchuthan Shanmugasundram gene: PISD was added gene: PISD was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype Mode of inheritance for gene: PISD was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PISD were set to 38801004; 31263216; 30858161; 30488656 Phenotypes for gene: PISD were set to OMIM:618889.0; MONDO:0030045; PISD-related spondyloepimetaphyseal dysplasia with large epiphyses and disturbed mitochondrial function |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||