This Panel is marked as Internal
Sudden cardiac death - previous panel
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
Ellen McDonagh (Genomics England Curator)
This gene was part of an initial gene list collated by Matthew Edwards Royal Brompton Hospital sent 16th Jan 2019 on behalf of the London South GLH for review by the GMS Cardiology Specialist Group. Only gene symbol from the Royal Brompton gene panel was provided - suggested initial gene rating and evidence for inclusion not provided with the list.Created: 20 Feb 2019, 2:17 p.m.
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- London South GLH
- Expert Review Green
- London South GLH
- Expert Review Green
- Phenotypes
-
- LEOPARD syndrome 1
- Noonan syndrome
- syndromic HCM
- Noonan syndrome 1
- LEOPARD syndrome
- OMIM
- 176876
- Clinvar variants
- Variants in PTPN11
- Penetrance
- None
- Publications
- Mode of Pathogenicity
- Other - please provide details in the comments
- Panels with this gene
-
- Haematological malignancies cancer susceptibility
- Hereditary neuropathy or pain disorder
- Mosaic skin disorders - deep sequencing
- Fetal hydrops
- Fetal anomalies
- Rare syndromic craniosynostosis or isolated multisuture synostosis
- Haematological malignancies for rare disease
- Paediatric or syndromic cardiomyopathy
- RASopathies
- IUGR and IGF abnormalities
- Bleeding and platelet disorders
- Skeletal dysplasia
- Cytopenia - NOT Fanconi anaemia
- Hereditary neuropathy
- Childhood solid tumours cancer susceptibility
- Primary lymphoedema
- Cytopenias and congenital anaemias
- Intellectual disability
- DDG2P
- Neurofibromatosis Type 1
- Embryonal tumour of possible germline origin
- Hypertrophic cardiomyopathy
- Osteogenesis imperfecta
- Pigmentary skin disorders
- Adult solid tumours cancer susceptibility
- Monogenic short stature
- Childhood solid tumours
- Sarcoma of possible germline origin
- Inherited bleeding disorders
History Filter Activity
9 Sep 2019, Gel status: 3
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes, Set mode of pathogenicity
Ivone Leong (Genomics England Curator)gene: PTPN11 was added gene: PTPN11 was added to Sudden cardiac death. Sources: Expert Review Green,London South GLH Mode of inheritance for gene: PTPN11 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: PTPN11 were set to 18678287; 16263833; 15384080; 11704759; 17497712; 17603483; 15240615; 12529711; 12634870 Phenotypes for gene: PTPN11 were set to LEOPARD syndrome 1; Noonan syndrome; syndromic HCM; Noonan syndrome 1; LEOPARD syndrome Mode of pathogenicity for gene: PTPN11 was set to Other - please provide details in the comments