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Severe Paediatric Disorders v0.17 | BSCL2 | Louise Daugherty Mode of inheritance for gene BSCL2 was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.12 | BSCL2 | Louise Daugherty reviewed gene: BSCL2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.11 | BSCL2 | Louise Daugherty Publications for gene BSCL2 were updated from to 30847515 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.10 | BSCL2 | Louise Daugherty Added phenotypes Encephalopathy, progressive, with or without lipodystrophy, 615924; Silver spastic paraplegia syndrome, 270685; Lipodystrophy, congenital generalized, type 2, 269700; Neuropathy, distal hereditary motor, type VA, 600794 for gene: BSCL2 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.9 | BSCL2 | Louise Daugherty Added phenotypes Encephalopathy, progressive, with or without lipodystrophy, 615924; Silver spastic paraplegia syndrome, 270685; Lipodystrophy, congenital generalized, type 2, 269700; Neuropathy, distal hereditary motor, type VA, 600794 for gene: BSCL2 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.9 | BSCL2 | Louise Daugherty Added phenotypes Encephalopathy, progressive, with or without lipodystrophy, 615924; Silver spastic paraplegia syndrome, 270685; Lipodystrophy, congenital generalized, type 2, 269700; Neuropathy, distal hereditary motor, type VA, 600794 for gene: BSCL2 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.8 | BSCL2 | Louise Daugherty Added phenotypes Neuropathy, distal hereditary motor, type VA, 600794; Encephalopathy, progressive, with or without lipodystrophy, 615924; Silver spastic paraplegia syndrome, 270685; Lipodystrophy, congenital generalized, type 2, 269700 for gene: BSCL2 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.7 | BSCL2 | Louise Daugherty Source Next Generation Children Project was added to BSCL2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.5 | BSCL2 |
Louise Daugherty Source Expert Review Green was added to BSCL2. Rating Changed from Red List (low evidence) to Green List (high evidence) |
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Severe Paediatric Disorders v0.4 | BSCL2 |
Louise Daugherty gene: BSCL2 was added gene: BSCL2 was added to Severe Paediatric Disorders. Sources: Expert list Mode of inheritance for gene: BSCL2 was set to |