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| Rare syndromic craniosynostosis or isolated multisuture synostosis v1.72 | RECQL4 | Eleanor Williams Added phenotypes Baller-Gerold syndrome 218600 for gene: RECQL4 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rare syndromic craniosynostosis or isolated multisuture synostosis v1.47 | RECQL4 | Tracy Lester reviewed gene: RECQL4: Rating: GREEN; Mode of pathogenicity: ; Publications: 24635570; Phenotypes: Baller-Gerold syndrome - 218600; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rare syndromic craniosynostosis or isolated multisuture synostosis v1.46 | RECQL4 | Eleanor Williams reviewed gene: RECQL4: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rare syndromic craniosynostosis or isolated multisuture synostosis v1.45 | RECQL4 |
Eleanor Williams Source NHS GMS was added to RECQL4. Rating Changed from Green List (high evidence) to Green List (high evidence) |
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