| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Severe Paediatric Disorders v1.21 | SOX3 | Arina Puzriakova Phenotypes for gene: SOX3 were changed from Mental retardation, X-linked, with isolated growth hormone deficiency, 300123; Panhypopituitarism, X-linked, 312000 to Mental retardation, X-linked, with isolated growth hormone deficiency, OMIM:300123; Intellectual disability, X-linked, with panhypopituitarism, MONDO:0010252; Panhypopituitarism, X-linked, OMIM:312000; Panhypopituitarism, X-linked, MONDO:0010712 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe Paediatric Disorders v0.12 | SOX3 | Louise Daugherty reviewed gene: SOX3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe Paediatric Disorders v0.11 | SOX3 | Louise Daugherty Publications for gene SOX3 were updated from to 30847515 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe Paediatric Disorders v0.10 | SOX3 | Louise Daugherty Added phenotypes Mental retardation, X-linked, with isolated growth hormone deficiency, 300123; Panhypopituitarism, X-linked, 312000 for gene: SOX3 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe Paediatric Disorders v0.9 | SOX3 | Louise Daugherty Added phenotypes Mental retardation, X-linked, with isolated growth hormone deficiency, 300123; Panhypopituitarism, X-linked, 312000 for gene: SOX3 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe Paediatric Disorders v0.9 | SOX3 | Louise Daugherty Added phenotypes Mental retardation, X-linked, with isolated growth hormone deficiency, 300123; Panhypopituitarism, X-linked, 312000 for gene: SOX3 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe Paediatric Disorders v0.8 | SOX3 | Louise Daugherty Added phenotypes Mental retardation, X-linked, with isolated growth hormone deficiency, 300123; Panhypopituitarism, X-linked, 312000 for gene: SOX3 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe Paediatric Disorders v0.8 | SOX3 |
Louise Daugherty Mode of inheritance for gene SOX3 was changed from to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Added phenotypes Mental retardation, X-linked, with isolated growth hormone deficiency, 300123; Panhypopituitarism, X-linked, 312000 for gene: SOX3 |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe Paediatric Disorders v0.7 | SOX3 | Louise Daugherty Source Next Generation Children Project was added to SOX3. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe Paediatric Disorders v0.5 | SOX3 |
Louise Daugherty Source Expert Review Green was added to SOX3. Rating Changed from Red List (low evidence) to Green List (high evidence) |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Severe Paediatric Disorders v0.4 | SOX3 |
Louise Daugherty gene: SOX3 was added gene: SOX3 was added to Severe Paediatric Disorders. Sources: Expert list Mode of inheritance for gene: SOX3 was set to |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||