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Severe Paediatric Disorders v0.17 | BGN | Louise Daugherty Mode of inheritance for gene BGN was changed from to X-LINKED: hemizygous mutation in males, biallelic mutations in females | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.12 | BGN | Louise Daugherty reviewed gene: BGN: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.11 | BGN | Louise Daugherty Publications for gene BGN were updated from to 30847515 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.10 | BGN | Louise Daugherty Added phenotypes Meester-Loeys syndrome, 300989; Spondyloepimetaphyseal dysplasia, X-linked, 300106 for gene: BGN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.9 | BGN | Louise Daugherty Added phenotypes Meester-Loeys syndrome, 300989; Spondyloepimetaphyseal dysplasia, X-linked, 300106 for gene: BGN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.9 | BGN | Louise Daugherty Added phenotypes Meester-Loeys syndrome, 300989; Spondyloepimetaphyseal dysplasia, X-linked, 300106 for gene: BGN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.8 | BGN | Louise Daugherty Added phenotypes Spondyloepimetaphyseal dysplasia, X-linked, 300106; Meester-Loeys syndrome, 300989 for gene: BGN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.7 | BGN | Louise Daugherty Source Next Generation Children Project was added to BGN. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.5 | BGN |
Louise Daugherty Source Expert Review Green was added to BGN. Rating Changed from Red List (low evidence) to Green List (high evidence) |
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Severe Paediatric Disorders v0.4 | BGN |
Louise Daugherty gene: BGN was added gene: BGN was added to Severe Paediatric Disorders. Sources: Expert list Mode of inheritance for gene: BGN was set to |