RASopathies
Gene: PTPN11EnsemblGeneIds (GRCh38): ENSG00000179295
EnsemblGeneIds (GRCh37): ENSG00000179295
OMIM: 176876, Gene2Phenotype
PTPN11 is in 27 panels
2 reviews
Ellen McDonagh (Genomics England Curator)
Comment on mode of pathogenicity: See comments from reviewer - both loss-of-function and gain-of-function variants may be relevant.Created: 5 Feb 2016, 12:39 p.m.
Comment when marking as ready: Comments from Reviewer: Loss of function mutations in PTPN11 are identified in 90% of cases of LEOPARD syndrome. Gain of function mutations in PTPN11 are the cause of 50% of Noonan syndrome cases. - Helen Savage (Congenica Ltd), Jan. 21, 2016, 11:25 a.m. Gain of function mutations in PTPN11 cause Noonan syndrome and LEOPARD syndrome. These disorders share phenotypes with Legius syndrome. No reports of mutations in PTPN11 causing Legius syndrome. - Helen Savage (Congenica Ltd), Jan. 25, 2016, 11:45 a.m. Gain of function mutations in, and rare duplications of, PTPN11 cause ~50% of Noonan syndrome cases. Loss of function mutations cause ~90% of LEOPARD syndrome cases. - Helen Savage (Congenica Ltd), Jan. 21, 2016, 2:21 p.m.Created: 5 Feb 2016, 12:35 p.m.
Helen Savage (Congenica Ltd)
Gain of function mutations cause Noonan syndrome; loss of function mutations cause LEOPARD syndromeCreated: 1 Feb 2016, 10:50 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Noonan syndrome; LEOPARD syndrome
Mode of pathogenicity
Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Green
- Radboud University Medical Center, Nijmegen
- Emory Genetics Laboratory
- UKGTN
- Eligibility statement prior genetic testing
- Illumina TruGenome Clinical Sequencing Services
- Phenotypes
-
- LEOPARD syndrome 1 151100
- Noonan syndrome 1 163950
- OMIM
- 176876
- Clinvar variants
- Variants in PTPN11
- Penetrance
- Complete
- Publications
- Mode of Pathogenicity
- Other - please provide details in the comments
- Panels with this gene
-
- Childhood solid tumours
- Adult solid tumours cancer susceptibility
- RASopathies
- IUGR and IGF abnormalities
- Hypertrophic cardiomyopathy
- Mosaic skin disorders - deep sequencing
- Paediatric or syndromic cardiomyopathy
- Inherited bleeding disorders
- Skeletal dysplasia
- Fetal anomalies
- Hereditary neuropathy or pain disorder
- Rare syndromic craniosynostosis or isolated multisuture synostosis
- Primary lymphoedema
- Childhood solid tumours cancer susceptibility
- Intellectual disability
- Cytopenia - NOT Fanconi anaemia
- Cytopenias and congenital anaemias
- Hereditary neuropathy
- Bleeding and platelet disorders
- DDG2P
- Haematological malignancies cancer susceptibility
- Pigmentary skin disorders
- Monogenic short stature
- Osteogenesis imperfecta
- Neurofibromatosis Type 1
- Fetal hydrops
- Haematological malignancies for rare disease
History Filter Activity
Set publications
Sarah Leigh (Genomics England Curator)Publications for gene: PTPN11 were set to PMID: 17603483; 11704759; 12529711; 12634870; 15384080; 15240615; 16263833; 17497712; 18678287
Set Phenotypes
Sarah Leigh (Genomics England Curator)Phenotypes for gene: PTPN11 were changed from LEOPARD syndrome; LEOPARD syndrome 1; Noonan syndrome; Noonan syndrome 1 to LEOPARD syndrome 1 151100; Noonan syndrome 1 163950
Set mode of pathogenicity
Ellen McDonagh (Genomics England Curator)Mode of pathogenicity for PTPN11 was changed to Other - please provide details in the comments
Set Phenotypes
Ellen McDonagh (Genomics England Curator)Phenotypes for PTPN11 were set to LEOPARD syndrome; LEOPARD syndrome 1; Noonan syndrome; Noonan syndrome 1
Set Phenotypes
Ellen McDonagh (Genomics England Curator)Phenotypes for PTPN11 were set to LEOPARD syndrome 1; LEOPARD syndrome; Noonan syndrome
Set publications
Ellen McDonagh (Genomics England Curator)Publications for PTPN11 were set to PMID: 17603483; 11704759; 12529711; 12634870; 15384080; 15240615; 16263833; 17497712; 18678287
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Set publications
Ellen McDonagh (Genomics England Curator)Publications for PTPN11 were set to PMID: 17603483
Set Mode of Inheritance
Ellen McDonagh (Genomics England Curator)Mode of inheritance for PTPN11 was changed to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Upload gene information
Ellen McDonagh (Genomics England Curator)PTPN11 was added to RASopathiespanel. Sources: Illumina TruGenome Clinical Sequencing Services,Emory Genetics Laboratory,Radboud University Medical Center, Nijmegen,Eligibility statement prior genetic testing,UKGTN
clearsources
Ellen McDonagh (Genomics England Curator)PTPN11All sources for gene: PTPN11 were removed
Added New Source
Ellen McDonagh (Genomics England Curator)PTPN11 was added to RASopathiespanel. Source: Emory Genetics Laboratory
Added New Source
Ellen McDonagh (Genomics England Curator)PTPN11 was added to RASopathiespanel. Source: Illumina TruGenome Clinical Sequencing Services PTPN11 was added to RASopathiespanel. Source: Emory Genetics Laboratory
Added New Source
Ellen McDonagh (Genomics England Curator)PTPN11 was added to RASopathiespanel. Source: Illumina TruGenome Clinical Sequencing Services
Added New Source
Ellen McDonagh (Genomics England Curator)PTPN11 was added to RASopathiespanel. Sources: Emory Genetics Laboratory,UKGTN,Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen,Eligibility statement prior genetic testing
Created
Ellen McDonagh (Genomics England Curator)PTPN11 was created by ellenmcdonagh