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Severe Paediatric Disorders v0.17 | FLNB | Louise Daugherty Mode of inheritance for gene FLNB was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.12 | FLNB | Louise Daugherty reviewed gene: FLNB: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.11 | FLNB | Louise Daugherty Publications for gene FLNB were updated from to 30847515 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.10 | FLNB | Louise Daugherty Added phenotypes Spondylocarpotarsal synostosis syndrome, 272460; Atelosteogenesis, type III, 108721; Larsen syndrome, 150250; Boomerang dysplasia, 112310; Atelosteogenesis, type I, 108720 for gene: FLNB | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.9 | FLNB | Louise Daugherty Added phenotypes Spondylocarpotarsal synostosis syndrome, 272460; Atelosteogenesis, type III, 108721; Larsen syndrome, 150250; Boomerang dysplasia, 112310; Atelosteogenesis, type I, 108720 for gene: FLNB | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.9 | FLNB | Louise Daugherty Added phenotypes Spondylocarpotarsal synostosis syndrome, 272460; Atelosteogenesis, type III, 108721; Larsen syndrome, 150250; Boomerang dysplasia, 112310; Atelosteogenesis, type I, 108720 for gene: FLNB | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.8 | FLNB | Louise Daugherty Added phenotypes Boomerang dysplasia, 112310; Spondylocarpotarsal synostosis syndrome, 272460; Larsen syndrome, 150250; Atelosteogenesis, type I, 108720; Atelosteogenesis, type III, 108721 for gene: FLNB | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.7 | FLNB | Louise Daugherty Source Next Generation Children Project was added to FLNB. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.5 | FLNB |
Louise Daugherty Source Expert Review Green was added to FLNB. Rating Changed from Red List (low evidence) to Green List (high evidence) |
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Severe Paediatric Disorders v0.4 | FLNB |
Louise Daugherty gene: FLNB was added gene: FLNB was added to Severe Paediatric Disorders. Sources: Expert list Mode of inheritance for gene: FLNB was set to |