| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Rare syndromic craniosynostosis or isolated multisuture synostosis v1.86 | PTPN11 | Eleanor Williams Phenotypes for gene: PTPN11 were changed from Noonan syndrome type 1 163950; leopard syndrome 151100 to Noonan syndrome type 1 163950; leopard syndrome 151100 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rare syndromic craniosynostosis or isolated multisuture synostosis v1.85 | PTPN11 | Eleanor Williams Phenotypes for gene: PTPN11 were changed from Noonan syndrome type 1 - 163950; leopard syndrome 151100 to Noonan syndrome type 1 163950; leopard syndrome 151100 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rare syndromic craniosynostosis or isolated multisuture synostosis v1.84 | PTPN11 | Eleanor Williams Classified gene: PTPN11 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rare syndromic craniosynostosis or isolated multisuture synostosis v1.84 | PTPN11 | Eleanor Williams Added comment: Comment on list classification: Upgrading to red to green. This gene causes Noonan syndrome and an an association with craniosynostosis is well documented. Green rating agreed at the GMS musculoskeletal specialist test group Webex on 2019-05-13. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rare syndromic craniosynostosis or isolated multisuture synostosis v1.84 | PTPN11 | Eleanor Williams Gene: ptpn11 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rare syndromic craniosynostosis or isolated multisuture synostosis v1.83 | PTPN11 | Eleanor Williams Mode of inheritance for gene: PTPN11 was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rare syndromic craniosynostosis or isolated multisuture synostosis v1.72 | PTPN11 | Eleanor Williams Added phenotypes Noonan syndrome type 1 - 163950; leopard syndrome 151100 for gene: PTPN11 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rare syndromic craniosynostosis or isolated multisuture synostosis v1.63 | PTPN11 | Eleanor Williams Added comment: Comment on publications: Ueda et al 2017 PMID: 28650561 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rare syndromic craniosynostosis or isolated multisuture synostosis v1.63 | PTPN11 | Eleanor Williams Publications for gene: PTPN11 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rare syndromic craniosynostosis or isolated multisuture synostosis v1.47 | PTPN11 | Tracy Lester reviewed gene: PTPN11: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Noonan syndrome type 1 - 163950, leopard syndrome - 151100; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rare syndromic craniosynostosis or isolated multisuture synostosis v1.46 | PTPN11 | Eleanor Williams reviewed gene: PTPN11: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rare syndromic craniosynostosis or isolated multisuture synostosis v1.45 | PTPN11 |
Eleanor Williams gene: PTPN11 was added gene: PTPN11 was added to Craniosynostosis. Sources: NHS GMS Mode of inheritance for gene: PTPN11 was set to |
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