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Severe Paediatric Disorders v0.17 | AVPR2 | Louise Daugherty Mode of inheritance for gene AVPR2 was changed from to X-LINKED: hemizygous mutation in males, biallelic mutations in females | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.12 | AVPR2 | Louise Daugherty reviewed gene: AVPR2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.11 | AVPR2 | Louise Daugherty Publications for gene AVPR2 were updated from to 30847515 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.10 | AVPR2 | Louise Daugherty Added phenotypes Nephrogenic syndrome of inappropriate antidiuresis, 300539; Diabetes insipidus, nephrogenic, 304800 for gene: AVPR2 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.9 | AVPR2 | Louise Daugherty Added phenotypes Nephrogenic syndrome of inappropriate antidiuresis, 300539; Diabetes insipidus, nephrogenic, 304800 for gene: AVPR2 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.9 | AVPR2 | Louise Daugherty Added phenotypes Nephrogenic syndrome of inappropriate antidiuresis, 300539; Diabetes insipidus, nephrogenic, 304800 for gene: AVPR2 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.8 | AVPR2 | Louise Daugherty Added phenotypes Diabetes insipidus, nephrogenic, 304800; Nephrogenic syndrome of inappropriate antidiuresis, 300539 for gene: AVPR2 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.7 | AVPR2 | Louise Daugherty Source Next Generation Children Project was added to AVPR2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.5 | AVPR2 |
Louise Daugherty Source Expert Review Green was added to AVPR2. Rating Changed from Red List (low evidence) to Green List (high evidence) |
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Severe Paediatric Disorders v0.4 | AVPR2 |
Louise Daugherty gene: AVPR2 was added gene: AVPR2 was added to Severe Paediatric Disorders. Sources: Expert list Mode of inheritance for gene: AVPR2 was set to |