Rare syndromic craniosynostosis or isolated multisuture synostosis
Gene: PTPN11EnsemblGeneIds (GRCh38): ENSG00000179295
EnsemblGeneIds (GRCh37): ENSG00000179295
OMIM: 176876, Gene2Phenotype
PTPN11 is in 27 panels
2 reviews
Tracy Lester (Genetics laboratory, Oxford UK)
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
Eleanor Williams (Genomics England Curator)
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.
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Green
- NHS GMS
- Phenotypes
-
- Noonan syndrome type 1 163950
- leopard syndrome 151100
- OMIM
- 176876
- Clinvar variants
- Variants in PTPN11
- Penetrance
- None
- Publications
- Panels with this gene
-
- Cytopenia - NOT Fanconi anaemia
- Cytopenias and congenital anaemias
- Hereditary neuropathy
- Bleeding and platelet disorders
- DDG2P
- Intellectual disability
- Haematological malignancies cancer susceptibility
- Pigmentary skin disorders
- Monogenic short stature
- Osteogenesis imperfecta
- Neurofibromatosis Type 1
- Fetal hydrops
- Haematological malignancies for rare disease
- Childhood solid tumours
- Adult solid tumours cancer susceptibility
- RASopathies
- IUGR and IGF abnormalities
- Hypertrophic cardiomyopathy
- Mosaic skin disorders - deep sequencing
- Paediatric or syndromic cardiomyopathy
- Inherited bleeding disorders
- Fetal anomalies
- Hereditary neuropathy or pain disorder
- Skeletal dysplasia
- Rare syndromic craniosynostosis or isolated multisuture synostosis
- Primary lymphoedema
- Childhood solid tumours cancer susceptibility
History Filter Activity
Set Phenotypes
Eleanor Williams (Genomics England Curator)Phenotypes for gene: PTPN11 were changed from Noonan syndrome type 1 163950; leopard syndrome 151100 to Noonan syndrome type 1 163950; leopard syndrome 151100
Set Phenotypes
Eleanor Williams (Genomics England Curator)Phenotypes for gene: PTPN11 were changed from Noonan syndrome type 1 - 163950; leopard syndrome 151100 to Noonan syndrome type 1 163950; leopard syndrome 151100
Entity classified by Genomics England curator
Eleanor Williams (Genomics England Curator)Gene: ptpn11 has been classified as Green List (High Evidence).
Set mode of inheritance
Eleanor Williams (Genomics England Curator)Mode of inheritance for gene: PTPN11 was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Set Phenotypes
Eleanor Williams (Genomics England Curator)Added phenotypes Noonan syndrome type 1 - 163950; leopard syndrome 151100 for gene: PTPN11
Set publications
Eleanor Williams (Genomics England Curator)Publications for gene: PTPN11 were set to
Created, Added New Source, Set mode of inheritance
Eleanor Williams (Genomics England Curator)gene: PTPN11 was added gene: PTPN11 was added to Craniosynostosis. Sources: NHS GMS Mode of inheritance for gene: PTPN11 was set to