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| Severe Paediatric Disorders v0.17 | B3GALT6 | Louise Daugherty Mode of inheritance for gene B3GALT6 was changed from to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe Paediatric Disorders v0.12 | B3GALT6 | Louise Daugherty reviewed gene: B3GALT6: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe Paediatric Disorders v0.11 | B3GALT6 | Louise Daugherty Publications for gene B3GALT6 were updated from to 30847515 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe Paediatric Disorders v0.10 | B3GALT6 | Louise Daugherty Added phenotypes Spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures, 271640; Ehlers-Danlos syndrome, spondylodysplastic type, 2, 615349 for gene: B3GALT6 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe Paediatric Disorders v0.9 | B3GALT6 | Louise Daugherty Added phenotypes Spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures, 271640; Ehlers-Danlos syndrome, spondylodysplastic type, 2, 615349 for gene: B3GALT6 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe Paediatric Disorders v0.9 | B3GALT6 | Louise Daugherty Added phenotypes Spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures, 271640; Ehlers-Danlos syndrome, spondylodysplastic type, 2, 615349 for gene: B3GALT6 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe Paediatric Disorders v0.8 | B3GALT6 | Louise Daugherty Added phenotypes Ehlers-Danlos syndrome, spondylodysplastic type, 2, 615349; Spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures, 271640 for gene: B3GALT6 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe Paediatric Disorders v0.7 | B3GALT6 | Louise Daugherty Source Next Generation Children Project was added to B3GALT6. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe Paediatric Disorders v0.5 | B3GALT6 |
Louise Daugherty Source Expert Review Green was added to B3GALT6. Rating Changed from Red List (low evidence) to Green List (high evidence) |
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| Severe Paediatric Disorders v0.4 | B3GALT6 |
Louise Daugherty gene: B3GALT6 was added gene: B3GALT6 was added to Severe Paediatric Disorders. Sources: Expert list Mode of inheritance for gene: B3GALT6 was set to |
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