Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
Severe Paediatric Disorders v0.12 | PNPLA8 | Louise Daugherty reviewed gene: PNPLA8: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.11 | PNPLA8 | Louise Daugherty Publications for gene PNPLA8 were updated from to 30847515 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.10 | PNPLA8 | Louise Daugherty Added phenotypes Colorectal cancer, hereditary nonpolyposis, type 4, 614337; Mismatch repair cancer syndrome, 276300 for gene: PNPLA8 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.9 | PNPLA8 | Louise Daugherty Added phenotypes Colorectal cancer, hereditary nonpolyposis, type 4, 614337; Mismatch repair cancer syndrome, 276300 for gene: PNPLA8 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.9 | PNPLA8 | Louise Daugherty Added phenotypes Colorectal cancer, hereditary nonpolyposis, type 4, 614337; Mismatch repair cancer syndrome, 276300 for gene: PNPLA8 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.8 | PNPLA8 | Louise Daugherty Added phenotypes Colorectal cancer, hereditary nonpolyposis, type 4, 614337; Mismatch repair cancer syndrome, 276300 for gene: PNPLA8 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.8 | PNPLA8 |
Louise Daugherty Mode of inheritance for gene PNPLA8 was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Added phenotypes Colorectal cancer, hereditary nonpolyposis, type 4, 614337; Mismatch repair cancer syndrome, 276300 for gene: PNPLA8 |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.7 | PNPLA8 | Louise Daugherty Source Next Generation Children Project was added to PNPLA8. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.5 | PNPLA8 |
Louise Daugherty Source Expert Review Amber was added to PNPLA8. Rating Changed from Red List (low evidence) to Amber List (moderate evidence) |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.4 | PNPLA8 |
Louise Daugherty gene: PNPLA8 was added gene: PNPLA8 was added to Severe Paediatric Disorders. Sources: Expert list Mode of inheritance for gene: PNPLA8 was set to |