Hypertrophic cardiomyopathy
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
2 reviews
Rebecca Whittington (South West GLH)
LEOPARD syndrome 1 (151100); Noonan syndrome 1 (163950)Created: 25 Mar 2019, 4:30 p.m.
Some patients may have HCMCreated: 25 Mar 2019, 4:27 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Oxford Medical Genetics Laboratory (OUH NHS Foundation Trust)
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- South West GLH
- Expert list
- Phenotypes
-
- syndromic HCM
- OMIM
- 176876
- Clinvar variants
- Variants in PTPN11
- Penetrance
- Complete
- Panels with this gene
-
- Adult solid tumours cancer susceptibility
- Haematological malignancies cancer susceptibility
- Skeletal dysplasia
- Osteogenesis imperfecta
- Monogenic short stature
- Embryonal tumour of possible germline origin
- Rare syndromic craniosynostosis or isolated multisuture synostosis
- Primary lymphoedema
- Fetal hydrops
- DDG2P
- Hypertrophic cardiomyopathy
- Haematological malignancies for rare disease
- Sarcoma of possible germline origin
- Hereditary neuropathy
- RASopathies
- IUGR and IGF abnormalities
- Intellectual disability
- Pigmentary skin disorders
- Paediatric or syndromic cardiomyopathy
- Childhood solid tumours cancer susceptibility
- Fetal anomalies
- Cytopenias and congenital anaemias
- Hereditary neuropathy or pain disorder
- Neurofibromatosis Type 1
- Mosaic skin disorders - Deep sequencing
- Childhood solid tumours
- Inherited bleeding disorders
- Bleeding and platelet disorders
- Cytopenia - NOT Fanconi anaemia
History Filter Activity
21 Feb 2019, Gel status: 1
Added New Source, Set mode of inheritance
Ellen McDonagh (Genomics England Curator)Source South West GLH was added to PTPN11. Mode of inheritance for gene PTPN11 was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
13 Jul 2015, Gel status: 0
Added New Source
Ellen McDonagh (Genomics England Curator)PTPN11 was added to Hypertrophic Cardiomyopathypanel. Sources: Expert list