Rare syndromic craniosynostosis or isolated multisuture synostosis
Gene: PTPN11
Ueda et al 2017 - describe 3 patients with mutations in PTPN11 and CSS. ; Review on behalf of Tracy Lester/Andrew WilkieCreated: 5 Mar 2019, 11:33 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Noonan syndrome type 1 - 163950; leopard syndrome - 151100
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.Created: 21 May 2019, 10:17 a.m.
Comment on publications: Ueda et al 2017 PMID: 28650561Created: 2 May 2019, 9:50 p.m.
This gene was part of an initial gene list collated by Tracy Lester, Oxford Medical Genetics Laboratories, Oxford University Hospitals NHS Foundation Trust, February 2019 on behalf of the GMS Musculoskeletal Specialist Group; Gene symbol submitted: PTPN11; Suggested initial gene rating: greenCreated: 5 Mar 2019, 11:21 a.m.
Phenotypes for gene: PTPN11 were changed from Noonan syndrome type 1 163950; leopard syndrome 151100 to Noonan syndrome type 1 163950; leopard syndrome 151100
Phenotypes for gene: PTPN11 were changed from Noonan syndrome type 1 - 163950; leopard syndrome 151100 to Noonan syndrome type 1 163950; leopard syndrome 151100
Gene: ptpn11 has been classified as Green List (High Evidence).
Mode of inheritance for gene: PTPN11 was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Added phenotypes Noonan syndrome type 1 - 163950; leopard syndrome 151100 for gene: PTPN11
Publications for gene: PTPN11 were set to
gene: PTPN11 was added gene: PTPN11 was added to Craniosynostosis. Sources: NHS GMS Mode of inheritance for gene: PTPN11 was set to