Neurofibromatosis Type 1
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
Alice Gardham (Genomics England)
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Noonan syndrome with multiple lentigines (LEOPARD syndrome), 151100
Publications
Mode of pathogenicity
Other
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Green
- UKGTN
- Expert Review
- Phenotypes
-
- Noonan syndrome with multiple lentigines (LEOPARD syndrome), 151100
- OMIM
- 176876
- Clinvar variants
- Variants in PTPN11
- Penetrance
- Complete
- Publications
- Mode of Pathogenicity
- Other - please provide details in the comments
- Panels with this gene
-
- Skeletal dysplasia
- Cytopenia - NOT Fanconi anaemia
- Haematological malignancies cancer susceptibility
- Intellectual disability
- DDG2P
- Mosaic skin disorders - deep sequencing
- Pigmentary skin disorders
- Fetal hydrops
- Rare syndromic craniosynostosis or isolated multisuture synostosis
- Haematological malignancies for rare disease
- RASopathies
- IUGR and IGF abnormalities
- Bleeding and platelet disorders
- Hereditary neuropathy
- Childhood solid tumours cancer susceptibility
- Primary lymphoedema
- Cytopenias and congenital anaemias
- Paediatric or syndromic cardiomyopathy
- Fetal anomalies
- Neurofibromatosis Type 1
- Hereditary neuropathy or pain disorder
- Embryonal tumour of possible germline origin
- Hypertrophic cardiomyopathy
- Osteogenesis imperfecta
- Monogenic short stature
- Adult solid tumours cancer susceptibility
- Childhood solid tumours
- Sarcoma of possible germline origin
- Inherited bleeding disorders
History Filter Activity
14 Nov 2016, Gel status: 4
panel promoted to version 1
Alice Gardham (Genomics England)Panel finalised 14th November 2016
14 Nov 2016, Gel status: 4
Gene classified by Genomics England curator
Alice Gardham (Genomics England)This gene has been classified as Green List (High Evidence).
14 Nov 2016, Gel status: 4
Gene classified by Genomics England curator
Alice Gardham (Genomics England)This gene has been classified as Green List (High Evidence).
14 Nov 2016, Gel status: 1
Added New Source
Alice Gardham (Genomics England)PTPN11 was added to Neurofibromatosis Type 1panel. Sources: Expert Review,UKGTN
14 Nov 2016, Gel status: 0
Created
Alice Gardham (Genomics England)PTPN11 was created by agardham