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| Severe Paediatric Disorders v0.17 | MBTPS2 | Louise Daugherty Mode of inheritance for gene MBTPS2 was changed from to X-LINKED: hemizygous mutation in males, biallelic mutations in females | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe Paediatric Disorders v0.12 | MBTPS2 | Louise Daugherty reviewed gene: MBTPS2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe Paediatric Disorders v0.11 | MBTPS2 | Louise Daugherty Publications for gene MBTPS2 were updated from to 30847515 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe Paediatric Disorders v0.10 | MBTPS2 | Louise Daugherty Added phenotypes ?Olmsted syndrome, X-linked, 300918; Osteogenesis imperfecta, type XIX, 301014; Keratosis follicularis spinulosa decalvans, X-linked, 308800; IFAP syndrome with or without BRESHECK syndrome, 308205 for gene: MBTPS2 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe Paediatric Disorders v0.9 | MBTPS2 | Louise Daugherty Added phenotypes ?Olmsted syndrome, X-linked, 300918; Osteogenesis imperfecta, type XIX, 301014; Keratosis follicularis spinulosa decalvans, X-linked, 308800; IFAP syndrome with or without BRESHECK syndrome, 308205 for gene: MBTPS2 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe Paediatric Disorders v0.9 | MBTPS2 | Louise Daugherty Added phenotypes ?Olmsted syndrome, X-linked, 300918; Osteogenesis imperfecta, type XIX, 301014; Keratosis follicularis spinulosa decalvans, X-linked, 308800; IFAP syndrome with or without BRESHECK syndrome, 308205 for gene: MBTPS2 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe Paediatric Disorders v0.8 | MBTPS2 | Louise Daugherty Added phenotypes ?Olmsted syndrome, X-linked, 300918; Keratosis follicularis spinulosa decalvans, X-linked, 308800; IFAP syndrome with or without BRESHECK syndrome, 308205; Osteogenesis imperfecta, type XIX, 301014 for gene: MBTPS2 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe Paediatric Disorders v0.7 | MBTPS2 | Louise Daugherty Source Next Generation Children Project was added to MBTPS2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe Paediatric Disorders v0.5 | MBTPS2 |
Louise Daugherty Source Expert Review Green was added to MBTPS2. Rating Changed from Red List (low evidence) to Green List (high evidence) |
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| Severe Paediatric Disorders v0.4 | MBTPS2 |
Louise Daugherty gene: MBTPS2 was added gene: MBTPS2 was added to Severe Paediatric Disorders. Sources: Expert list Mode of inheritance for gene: MBTPS2 was set to |
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