Sarcoma of possible germline origin
Gene: PTPN11
PTPN11 (protein tyrosine phosphatase, non-receptor type 11)
EnsemblGeneIds (GRCh38): ENSG00000179295
EnsemblGeneIds (GRCh37): ENSG00000179295
OMIM: 176876, Gene2Phenotype
PTPN11 is in 29 panels
EnsemblGeneIds (GRCh38): ENSG00000179295
EnsemblGeneIds (GRCh37): ENSG00000179295
OMIM: 176876, Gene2Phenotype
PTPN11 is in 29 panels
1 review
Achchuthan Shanmugasundram (Genomics England Curator)
PTPN11 has been added to the panel for the clinical indication 'R457 Sarcoma of possible germline origin' with a green rating as agreed with the NHS Genomic Medicine Service.Created: 26 Jan 2026, 6:28 p.m. | Last Modified: 26 Jan 2026, 6:28 p.m.
Panel Version: 0.4
Comment on phenotypes: This gene has been associated with relevant phenotypes in OMIM (MIM #163950) and the OMIM record was last accessed on 30 December 2025.Created: 30 Dec 2025, 2:24 p.m. | Last Modified: 30 Dec 2025, 2:24 p.m.
Panel Version: 0.2
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Noonan syndrome 1, OMIM:163950; Noonan syndrome 1, MONDO:0008104
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
- Sources
-
- Expert Review Green
- NHS GMS
- Phenotypes
-
- Noonan syndrome 1, OMIM:163950
- Noonan syndrome 1, MONDO:0008104
- OMIM
- 176876
- Clinvar variants
- Variants in PTPN11
- Penetrance
- None
- Panels with this gene
-
- Cytopenia - NOT Fanconi anaemia
- Hereditary neuropathy
- Hereditary neuropathy or pain disorder
- Intellectual disability
- DDG2P
- Skeletal dysplasia
- Pigmentary skin disorders
- Fetal hydrops
- Haematological malignancies for rare disease
- Paediatric or syndromic cardiomyopathy
- Embryonal tumour of possible germline origin
- RASopathies
- IUGR and IGF abnormalities
- Hypertrophic cardiomyopathy
- Mosaic skin disorders - deep sequencing
- Childhood solid tumours cancer susceptibility
- Haematological malignancies cancer susceptibility
- Cytopenias and congenital anaemias
- Rare syndromic craniosynostosis or isolated multisuture synostosis
- Bleeding and platelet disorders
- Monogenic short stature
- Neurofibromatosis Type 1
- Osteogenesis imperfecta
- Childhood solid tumours
- Adult solid tumours cancer susceptibility
- Primary lymphoedema
- Inherited bleeding disorders
- Sarcoma of possible germline origin
- Fetal anomalies
History Filter Activity
30 Dec 2025, Gel status: 3
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Achchuthan Shanmugasundram (Genomics England Curator)gene: PTPN11 was added gene: PTPN11 was added to Sarcoma of possible germline origin. Sources: NHS GMS,Expert Review Green Mode of inheritance for gene: PTPN11 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: PTPN11 were set to Noonan syndrome 1, OMIM:163950; Noonan syndrome 1, MONDO:0008104