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Rare syndromic craniosynostosis or isolated multisuture synostosis v1.96 | CYP26B1 | Eleanor Williams Mode of inheritance for gene: CYP26B1 was changed from to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rare syndromic craniosynostosis or isolated multisuture synostosis v1.95 | CYP26B1 | Eleanor Williams Classified gene: CYP26B1 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rare syndromic craniosynostosis or isolated multisuture synostosis v1.95 | CYP26B1 | Eleanor Williams Added comment: Comment on list classification: Upgrading from red to green. Green rating agreed at the GMS musculoskeletal specialist test group Webex on 2019-05-13. Now 3 cases | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rare syndromic craniosynostosis or isolated multisuture synostosis v1.95 | CYP26B1 | Eleanor Williams Gene: cyp26b1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rare syndromic craniosynostosis or isolated multisuture synostosis v1.56 | CYP26B1 | Eleanor Williams Publications for gene: CYP26B1 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rare syndromic craniosynostosis or isolated multisuture synostosis v1.55 | CYP26B1 |
Eleanor Williams commented on gene: CYP26B1: Laue et al 2011 PMID: 22019272 - 2 families. Morton et al 2016 PMID: 27410456 |
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Rare syndromic craniosynostosis or isolated multisuture synostosis v1.47 | CYP26B1 | Tracy Lester reviewed gene: CYP26B1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Craniosynostosis with radiohumeral fusions and other skeletal and craniofacial anomalies, 614416; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rare syndromic craniosynostosis or isolated multisuture synostosis v1.46 | CYP26B1 | Eleanor Williams reviewed gene: CYP26B1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rare syndromic craniosynostosis or isolated multisuture synostosis v1.45 | CYP26B1 | Eleanor Williams Source NHS GMS was added to CYP26B1. |