This Panel is marked as Retired
Multiple Tumours
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
0 reviews
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Green
- Phenotypes
-
- Paediatric congenital malformation-dysmorphism-tumour syndromes
- OMIM
- 176876
- Clinvar variants
- Variants in PTPN11
- Penetrance
- Complete
- Publications
- Panels with this gene
-
- Cytopenia - NOT Fanconi anaemia
- Intellectual disability
- Pigmentary skin disorders
- Embryonal tumour of possible germline origin
- Mosaic skin disorders - deep sequencing
- Sarcoma of possible germline origin
- Fetal hydrops
- Fetal anomalies
- Haematological malignancies for rare disease
- Skeletal dysplasia
- Monogenic short stature
- RASopathies
- IUGR and IGF abnormalities
- Hypertrophic cardiomyopathy
- Hereditary neuropathy
- Childhood solid tumours cancer susceptibility
- Haematological malignancies cancer susceptibility
- Paediatric or syndromic cardiomyopathy
- Hereditary neuropathy or pain disorder
- Bleeding and platelet disorders
- Primary lymphoedema
- Cytopenias and congenital anaemias
- Rare syndromic craniosynostosis or isolated multisuture synostosis
- Neurofibromatosis Type 1
- Childhood solid tumours
- Osteogenesis imperfecta
- Adult solid tumours cancer susceptibility
- DDG2P
- Inherited bleeding disorders
History Filter Activity
9 Mar 2016, Gel status: 0
Created
Ellen McDonagh (Genomics England Curator)PTPN11 was created by ellenmcdonagh
9 Mar 2016, Gel status: 4
Added New Source
Ellen McDonagh (Genomics England Curator)PTPN11 was added to Multiple Tumourspanel. Sources: Expert Review Green