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| Growth failure in early childhood v1.17 | SOX3 | Arina Puzriakova Phenotypes for gene: SOX3 were changed from Panhypopituitarism, X-linked, 312000; Mental retardation, X-linked, with isolated growth hormone deficiency, 300123 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 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Growth failure in early childhood v0.23 | SOX3 | Rebecca Foulger reviewed gene: SOX3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Growth failure in early childhood v0.22 | SOX3 |
Rebecca Foulger Source Expert Review Red was added to SOX3. Rating Changed from Green List (high evidence) to Red List (low evidence) |
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| Growth failure in early childhood v0.1 | SOX3 |
Ellen McDonagh gene: SOX3 was added gene: SOX3 was added to Growth failure in early childhood. Sources: Expert Review Green Mode of inheritance for gene: SOX3 was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Publications for gene: SOX3 were set to 15800844 Phenotypes for gene: SOX3 were set to Panhypopituitarism, X-linked, 312000; Mental retardation, X-linked, with isolated growth hormone deficiency, 300123 Mode of pathogenicity for gene: SOX3 was set to Other - please provide details in the comments |
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