This Panel is marked as Internal
Paediatric or syndromic cardiomyopathy - previous panel
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
0 reviews
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- South West GLH
- OMIM
- 176876
- Clinvar variants
- Variants in PTPN11
- Penetrance
- None
- 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
21 Feb 2019, Gel status: 1
Created, Added New Source, Set mode of inheritance
Ellen McDonagh (Genomics England Curator)gene: PTPN11 was added gene: PTPN11 was added to Paediatric or syndromic cardiomyopathy. Sources: South West GLH Mode of inheritance for gene: PTPN11 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted