Inherited bleeding disorders
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
Louise Daugherty (Genomics England Curator)
Comment on list classification: Changed rating from Grey to Green based on expert list/supporting information from the NIHRBR-RD BRIDGE projectCreated: 9 Aug 2017, 1:34 p.m.
Comment on publications: added recent publication to support phenotypeCreated: 9 Aug 2017, 1:34 p.m.
BRIDGE consortium (NIHRBR-RD)
Current level of evidence and expert review, High level of confidence as disease-causing gene. Proven in 3 unrelated pedigrees via cosegregation analysis or less than 3 or 1 large pedigree supported with functional studies (animal model). Ready for clinical reporting. Previous comments from expert reviewer, observed in the NIHRBR-RD BRIDGE cohort.Created: 9 Aug 2017, 12:32 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Bleeding disorder; LEOPARD syndrome, Leukemia, Juvenile myelomonocytic, somatic; Metachondromatosis; Noonan syndrome
Publications
Variants in this GENE are reported as part of current diagnostic practice
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
- Sources
-
- Expert Review Green
- Phenotypes
-
- Bleeding disorder
- LEOPARD syndrome, Leukemia, Juvenile myelomonocytic, somatic
- Metachondromatosis
- Noonan syndrome
- OMIM
- 176876
- Clinvar variants
- Variants in PTPN11
- Penetrance
- Complete
- Publications
- 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
- Fetal anomalies
- Hypertrophic cardiomyopathy
- Haematological malignancies for rare disease
- Sarcoma of possible germline origin
- Hereditary neuropathy
- RASopathies
- IUGR and IGF abnormalities
- Pigmentary skin disorders
- Paediatric or syndromic cardiomyopathy
- Childhood solid tumours cancer susceptibility
- Cytopenias and congenital anaemias
- Neurofibromatosis Type 1
- Mosaic skin disorders - Deep sequencing
- Intellectual disability
- Childhood solid tumours
- Inherited bleeding disorders
- DDG2P
- Bleeding and platelet disorders
- Cytopenia - NOT Fanconi anaemia
- Hereditary neuropathy or pain disorder
History Filter Activity
9 Aug 2017, Gel status: 4
Gene classified by Genomics England curator
Louise Daugherty (Genomics England Curator)This gene has been classified as Green List (High Evidence).
9 Aug 2017, Gel status: 0
Set publications
Louise Daugherty (Genomics England Curator)Publications for PTPN11 were set to 11704759; 28587547
9 Aug 2017, Gel status: 0
Added New Source
BRIDGE consortium (NIHRBR-RD)PTPN11 was added to Inherited bleeding disorderspanel. Sources: Expert Review Green,BRIDGE Study Tier 1 Gene
9 Aug 2017, Gel status: 0
Created
BRIDGE consortium (NIHRBR-RD)PTPN11 was created by BRIDGE