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Rare syndromic craniosynostosis or isolated multisuture synostosis v1.92 | P4HB | Eleanor Williams Classified gene: P4HB as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rare syndromic craniosynostosis or isolated multisuture synostosis v1.92 | P4HB | 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. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rare syndromic craniosynostosis or isolated multisuture synostosis v1.92 | P4HB | Eleanor Williams Gene: p4hb has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rare syndromic craniosynostosis or isolated multisuture synostosis v1.91 | P4HB | Eleanor Williams Phenotypes for gene: P4HB were changed from Cole-Carpenter syndrome 1 to Cole-Carpenter syndrome 1 112240 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rare syndromic craniosynostosis or isolated multisuture synostosis v1.90 | P4HB | Eleanor Williams Mode of inheritance for gene: P4HB was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rare syndromic craniosynostosis or isolated multisuture synostosis v1.72 | P4HB | Eleanor Williams Added phenotypes Cole-Carpenter syndrome 1 for gene: P4HB | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rare syndromic craniosynostosis or isolated multisuture synostosis v1.62 | P4HB |
Eleanor Williams Added comment: Comment on publications: Rauch et al 2015 PMID: 25683117 Ouyang et al 2017 PMID: 29384951 |
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Rare syndromic craniosynostosis or isolated multisuture synostosis v1.62 | P4HB | Eleanor Williams Publications for gene: P4HB were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rare syndromic craniosynostosis or isolated multisuture synostosis v1.47 | P4HB | Tracy Lester reviewed gene: P4HB: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Cole-Carpenter syndrome 1; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rare syndromic craniosynostosis or isolated multisuture synostosis v1.46 | P4HB | Eleanor Williams reviewed gene: P4HB: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Rare syndromic craniosynostosis or isolated multisuture synostosis v1.45 | P4HB |
Eleanor Williams gene: P4HB was added gene: P4HB was added to Craniosynostosis. Sources: NHS GMS Mode of inheritance for gene: P4HB was set to |