Primary lymphoedema
Gene: PTPN11EnsemblGeneIds (GRCh38): ENSG00000179295
EnsemblGeneIds (GRCh37): ENSG00000179295
OMIM: 176876, Gene2Phenotype
PTPN11 is in 27 panels
2 reviews
Sarah Leigh (Genomics England Curator)
Comment on list classification: Based on recommendation from Sahar Mansour (St George's Hospital, London).Created: 27 Jun 2019, 3:48 p.m. | Last Modified: 27 Jun 2019, 3:48 p.m.
Panel Version: 1.68
Sahar Mansour (St George's Hospital, London)
Green gene from RASopathies (Version 1.55)(https://panelapp.genomicsengland.co.uk/panels/48/). 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)Created: 27 Jun 2019, 3:36 p.m. | Last Modified: 27 Jun 2019, 3:36 p.m.
Panel Version: 1.45
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
LEOPARD syndrome 1 151100; Noonan syndrome 1 163950
Publications
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
- Sources
-
- Expert Review Green
- Expert Review
- Phenotypes
-
- Noonan syndrome 1 163950
- LEOPARD syndrome 1 151100
- OMIM
- 176876
- Clinvar variants
- Variants in PTPN11
- Penetrance
- None
- 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
Entity classified by Genomics England curator
Sarah Leigh (Genomics England Curator)Gene: ptpn11 has been classified as Green List (High Evidence).
Created, Added New Source, Set mode of inheritance, Set Phenotypes, Set mode of pathogenicity
Sarah Leigh (Genomics England Curator)gene: PTPN11 was added gene: PTPN11 was added to Primary lymphoedema. Sources: Expert Review Mode of inheritance for gene: PTPN11 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: PTPN11 were set to Noonan syndrome 1 163950; LEOPARD syndrome 1 151100 Mode of pathogenicity for gene: PTPN11 was set to Other - please provide details in the comments