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| Severe Paediatric Disorders v0.12 | SLC26A2 | Louise Daugherty reviewed gene: SLC26A2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe Paediatric Disorders v0.11 | SLC26A2 | Louise Daugherty Publications for gene SLC26A2 were updated from to 30847515 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe Paediatric Disorders v0.10 | SLC26A2 | Louise Daugherty Added phenotypes Diastrophic dysplasia, 222600; Epiphyseal dysplasia, multiple, 4, 226900; Achondrogenesis Ib, 600972; De la Chapelle dysplasia, 256050; Diastrophic dysplasia, broad bone-platyspondylic variant, 222600; Atelosteogenesis, type II, 256050 for gene: SLC26A2 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe Paediatric Disorders v0.9 | SLC26A2 | Louise Daugherty Added phenotypes Diastrophic dysplasia, 222600; Epiphyseal dysplasia, multiple, 4, 226900; Achondrogenesis Ib, 600972; De la Chapelle dysplasia, 256050; Diastrophic dysplasia, broad bone-platyspondylic variant, 222600; Atelosteogenesis, type II, 256050 for gene: SLC26A2 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe Paediatric Disorders v0.9 | SLC26A2 | Louise Daugherty Added phenotypes Diastrophic dysplasia, 222600; Epiphyseal dysplasia, multiple, 4, 226900; Achondrogenesis Ib, 600972; De la Chapelle dysplasia, 256050; Diastrophic dysplasia, broad bone-platyspondylic variant, 222600; Atelosteogenesis, type II, 256050 for gene: SLC26A2 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe Paediatric Disorders v0.8 | SLC26A2 | Louise Daugherty Added phenotypes Achondrogenesis Ib, 600972; Diastrophic dysplasia, broad bone-platyspondylic variant, 222600; Diastrophic dysplasia, 222600; Atelosteogenesis, type II, 256050; Epiphyseal dysplasia, multiple, 4, 226900; De la Chapelle dysplasia, 256050 for gene: SLC26A2 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe Paediatric Disorders v0.8 | SLC26A2 |
Louise Daugherty Mode of inheritance for gene SLC26A2 was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Diastrophic dysplasia, 222600; Epiphyseal dysplasia, multiple, 4, 226900; Achondrogenesis Ib, 600972; De la Chapelle dysplasia, 256050; Diastrophic dysplasia, broad bone-platyspondylic variant, 222600; Atelosteogenesis, type II, 256050 for gene: SLC26A2 |
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| Severe Paediatric Disorders v0.7 | SLC26A2 | Louise Daugherty Source Next Generation Children Project was added to SLC26A2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe Paediatric Disorders v0.5 | SLC26A2 |
Louise Daugherty Source Expert Review Green was added to SLC26A2. Rating Changed from Red List (low evidence) to Green List (high evidence) |
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| Severe Paediatric Disorders v0.4 | SLC26A2 |
Louise Daugherty gene: SLC26A2 was added gene: SLC26A2 was added to Severe Paediatric Disorders. Sources: Expert list Mode of inheritance for gene: SLC26A2 was set to |
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