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| Rare syndromic craniosynostosis or isolated multisuture synostosis v1.72 | STAT3 | Eleanor Williams Added phenotypes Hyper IgE recurrent infection syndrome 147060 for gene: STAT3 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rare syndromic craniosynostosis or isolated multisuture synostosis v1.47 | STAT3 | Tracy Lester reviewed gene: STAT3: Rating: GREEN; Mode of pathogenicity: Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments; Publications: 20159255; Phenotypes: Hyper IgE recurrent infection syndrome - 147060; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rare syndromic craniosynostosis or isolated multisuture synostosis v1.46 | STAT3 | Eleanor Williams reviewed gene: STAT3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rare syndromic craniosynostosis or isolated multisuture synostosis v1.45 | STAT3 |
Eleanor Williams Source NHS GMS was added to STAT3. Rating Changed from Green List (high evidence) to Green List (high evidence) |
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