Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
Severe Paediatric Disorders v0.17 | COL17A1 | Louise Daugherty Mode of inheritance for gene COL17A1 was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.12 | COL17A1 | Louise Daugherty reviewed gene: COL17A1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.11 | COL17A1 | Louise Daugherty Publications for gene COL17A1 were updated from to 30847515 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.10 | COL17A1 | Louise Daugherty Added phenotypes Epidermolysis bullosa, junctional, localisata variant, 226650; Epithelial recurrent erosion dystrophy, 122400; Epidermolysis bullosa, junctional, non-Herlitz type, 226650 for gene: COL17A1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.9 | COL17A1 | Louise Daugherty Added phenotypes Epidermolysis bullosa, junctional, localisata variant, 226650; Epithelial recurrent erosion dystrophy, 122400; Epidermolysis bullosa, junctional, non-Herlitz type, 226650 for gene: COL17A1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.9 | COL17A1 | Louise Daugherty Added phenotypes Epidermolysis bullosa, junctional, localisata variant, 226650; Epithelial recurrent erosion dystrophy, 122400; Epidermolysis bullosa, junctional, non-Herlitz type, 226650 for gene: COL17A1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.8 | COL17A1 | Louise Daugherty Added phenotypes Epidermolysis bullosa, junctional, localisata variant, 226650; Epithelial recurrent erosion dystrophy, 122400; Epidermolysis bullosa, junctional, non-Herlitz type, 226650 for gene: COL17A1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.7 | COL17A1 | Louise Daugherty Source Next Generation Children Project was added to COL17A1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.5 | COL17A1 |
Louise Daugherty Source Expert Review Green was added to COL17A1. Rating Changed from Red List (low evidence) to Green List (high evidence) |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.4 | COL17A1 |
Louise Daugherty gene: COL17A1 was added gene: COL17A1 was added to Severe Paediatric Disorders. Sources: Expert list Mode of inheritance for gene: COL17A1 was set to |