This Panel is marked as Internal
Undiagnosed neurocutaneous disorders
Gene: PTPN11
PTPN11 (protein tyrosine phosphatase, non-receptor type 11)
EnsemblGeneIds (GRCh38): ENSG00000179295
EnsemblGeneIds (GRCh37): ENSG00000179295
OMIM: 176876, Gene2Phenotype
PTPN11 is in 27 panels
EnsemblGeneIds (GRCh38): ENSG00000179295
EnsemblGeneIds (GRCh37): ENSG00000179295
OMIM: 176876, Gene2Phenotype
PTPN11 is in 27 panels
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Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
- Sources
-
- Radboud University Medical Center, Nijmegen
- Illumina TruGenome Clinical Sequencing Services
- UKGTN
- Emory Genetics Laboratory
- Phenotypes
-
- LEOPARD syndrome 1, 151100
- Noonan syndrome 1, 163950
- OMIM
- 176876
- Clinvar variants
- Variants in PTPN11
- Penetrance
- Complete
- Publications
- Panels with this gene
-
- Childhood solid tumours cancer susceptibility
- Haematological malignancies cancer susceptibility
- Cytopenia - NOT Fanconi anaemia
- Rare syndromic craniosynostosis or isolated multisuture synostosis
- Bleeding and platelet disorders
- Primary lymphoedema
- Cytopenias and congenital anaemias
- Skeletal dysplasia
- Monogenic short stature
- Neurofibromatosis Type 1
- Fetal hydrops
- Childhood solid tumours
- Haematological malignancies for rare disease
- Paediatric or syndromic cardiomyopathy
- Osteogenesis imperfecta
- Intellectual disability
- Pigmentary skin disorders
- Hereditary neuropathy or pain disorder
- Adult solid tumours cancer susceptibility
- RASopathies
- IUGR and IGF abnormalities
- Hypertrophic cardiomyopathy
- Mosaic skin disorders - deep sequencing
- Inherited bleeding disorders
- Fetal anomalies
- DDG2P
- Hereditary neuropathy
History Filter Activity
11 May 2017, Gel status: 4
Set publications
Rebecca Foulger (Genomics England curator)Publications for PTPN11 were set to 26903185
11 May 2017, Gel status: 4
Set Phenotypes
Rebecca Foulger (Genomics England curator)Phenotypes for PTPN11 were set to LEOPARD syndrome 1, 151100; Noonan syndrome 1, 163950
10 Dec 2015, Gel status: 4
Added New Source
Ellen McDonagh (Genomics England Curator)PTPN11 was added to Undiagnosed neurocutaneous disorderspanel. Sources: Emory Genetics Laboratory,UKGTN,Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen
10 Dec 2015, Gel status: 0
Created
Ellen McDonagh (Genomics England Curator)PTPN11 was created by ellenmcdonagh