Haematological malignancies for rare disease
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
Clare Turnbull (Queen Mary University London)
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
- Sources
-
- Expert Review Green
- Curated sources
- Phenotypes
-
- Class: Ras-opathy
- Noonan syndrome
- JMML, ALL
- Solid tumors
- OMIM
- 176876
- Clinvar variants
- Variants in PTPN11
- Penetrance
- None
- Publications
- 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
22 Aug 2018, Gel status: 4
Panel promoted to version 1.0
Ellen McDonagh (Genomics England Curator)22nd August 2018: Reviewed by Helen Brittain, and suggested changes approved by Clare Turnbull. Changes made prior to promoting to version 1.
10 Apr 2018, Gel status: 4
Added New Source
Ellen McDonagh (Genomics England Curator)PTPN11 was added to Haematological malignancies for rare disease panel. Sources: Curated sources,Expert Review Green
10 Apr 2018, Gel status: 4
Created
Ellen McDonagh (Genomics England Curator)PTPN11 was created by Ellen McDonagh