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Severe Paediatric Disorders v0.17 | COL1A1 | Louise Daugherty Mode of inheritance for gene COL1A1 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.12 | COL1A1 | Louise Daugherty reviewed gene: COL1A1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.11 | COL1A1 | Louise Daugherty Publications for gene COL1A1 were updated from to 30847515 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.10 | COL1A1 | Louise Daugherty Added phenotypes Ehlers-Danlos syndrome, arthrochalasia type, 1, 130060; Osteogenesis imperfecta, type I, 166200; Osteogenesis imperfecta, type III, 259420; Caffey disease, 114000; Osteogenesis imperfecta, type II, 166210; Osteogenesis imperfecta, type IV, 166220 for gene: COL1A1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.9 | COL1A1 | Louise Daugherty Added phenotypes Ehlers-Danlos syndrome, arthrochalasia type, 1, 130060; Osteogenesis imperfecta, type I, 166200; Osteogenesis imperfecta, type III, 259420; Caffey disease, 114000; Osteogenesis imperfecta, type II, 166210; Osteogenesis imperfecta, type IV, 166220 for gene: COL1A1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.9 | COL1A1 | Louise Daugherty Added phenotypes Ehlers-Danlos syndrome, arthrochalasia type, 1, 130060; Osteogenesis imperfecta, type I, 166200; Osteogenesis imperfecta, type III, 259420; Caffey disease, 114000; Osteogenesis imperfecta, type II, 166210; Osteogenesis imperfecta, type IV, 166220 for gene: COL1A1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.8 | COL1A1 | Louise Daugherty Added phenotypes Osteogenesis imperfecta, type II, 166210; Osteogenesis imperfecta, type IV, 166220; Osteogenesis imperfecta, type I, 166200; Osteogenesis imperfecta, type III, 259420; Ehlers-Danlos syndrome, arthrochalasia type, 1, 130060; Caffey disease, 114000 for gene: COL1A1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.7 | COL1A1 | Louise Daugherty Source Next Generation Children Project was added to COL1A1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.5 | COL1A1 |
Louise Daugherty Source Expert Review Green was added to COL1A1. Rating Changed from Red List (low evidence) to Green List (high evidence) |
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Severe Paediatric Disorders v0.4 | COL1A1 |
Louise Daugherty gene: COL1A1 was added gene: COL1A1 was added to Severe Paediatric Disorders. Sources: Expert list Mode of inheritance for gene: COL1A1 was set to |