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| Severe Paediatric Disorders v0.12 | NPR2 | Louise Daugherty reviewed gene: NPR2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe Paediatric Disorders v0.11 | NPR2 | Louise Daugherty Publications for gene NPR2 were updated from to 30847515 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe Paediatric Disorders v0.11 | NPR2 | Louise Daugherty Mode of inheritance for gene NPR2 was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe Paediatric Disorders v0.10 | NPR2 | Louise Daugherty Added phenotypes Short stature with nonspecific skeletal abnormalities, 616255; Acromesomelic dysplasia, Maroteaux type, 602875; Epiphyseal chondrodysplasia, Miura type, 615923 for gene: NPR2 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe Paediatric Disorders v0.9 | NPR2 | Louise Daugherty Added phenotypes Short stature with nonspecific skeletal abnormalities, 616255; Acromesomelic dysplasia, Maroteaux type, 602875; Epiphyseal chondrodysplasia, Miura type, 615923 for gene: NPR2 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe Paediatric Disorders v0.9 | NPR2 | Louise Daugherty Added phenotypes Short stature with nonspecific skeletal abnormalities, 616255; Acromesomelic dysplasia, Maroteaux type, 602875; Epiphyseal chondrodysplasia, Miura type, 615923 for gene: NPR2 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe Paediatric Disorders v0.8 | NPR2 | Louise Daugherty Added phenotypes Epiphyseal chondrodysplasia, Miura type, 615923; Short stature with nonspecific skeletal abnormalities, 616255; Acromesomelic dysplasia, Maroteaux type, 602875 for gene: NPR2 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe Paediatric Disorders v0.7 | NPR2 | Louise Daugherty Source Next Generation Children Project was added to NPR2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe Paediatric Disorders v0.5 | NPR2 |
Louise Daugherty Source Expert Review Green was added to NPR2. Rating Changed from Red List (low evidence) to Green List (high evidence) |
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| Severe Paediatric Disorders v0.4 | NPR2 |
Louise Daugherty gene: NPR2 was added gene: NPR2 was added to Severe Paediatric Disorders. Sources: Expert list Mode of inheritance for gene: NPR2 was set to |
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