Cytopenias and congenital anaemias
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
Sarah Leigh (Genomics England Curator)
Comment when marking as ready: Conditions associated with germline mutations do not have a prominent haematological component. Noonan syndrome can be associated with bleeding tendendy but this is not appropriate for inclusion on this panel. Somatic mutations of the rasopathy genes are implicated in haematological malignancy, PTPN11 in JMML, but this is out of scope for the panel.
Created: 9 Mar 2017, 4:29 p.m.
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Red
- BRIDGE consortium (NIHRBR-RD)
- Phenotypes
-
- LEOPARD syndrome 1 151100
- Metachondromatosis 156250
- Noonan syndrome 1 163950
- Myelodysplastic syndrome (MDS), Paediatric
- OMIM
- 176876
- Clinvar variants
- Variants in PTPN11
- Penetrance
- Complete
- Publications
- Panels with this gene
-
- Cytopenia - NOT Fanconi anaemia
- Skeletal dysplasia
- Pigmentary skin disorders
- Fetal hydrops
- Paediatric or syndromic cardiomyopathy
- Haematological malignancies for rare disease
- Intellectual disability
- Embryonal tumour of possible germline origin
- RASopathies
- IUGR and IGF abnormalities
- Hypertrophic cardiomyopathy
- Mosaic skin disorders - deep sequencing
- DDG2P
- Hereditary neuropathy
- Fetal anomalies
- Childhood solid tumours cancer susceptibility
- Haematological malignancies cancer susceptibility
- Cytopenias and congenital anaemias
- Rare syndromic craniosynostosis or isolated multisuture synostosis
- Bleeding and platelet disorders
- Monogenic short stature
- Neurofibromatosis Type 1
- Childhood solid tumours
- Osteogenesis imperfecta
- Adult solid tumours cancer susceptibility
- Primary lymphoedema
- Inherited bleeding disorders
- Hereditary neuropathy or pain disorder
- Sarcoma of possible germline origin
History Filter Activity
11 Mar 2017, Gel status: 1
panel promoted to version 1
Arianna Tucci (Genomics England Curator)Promoted to V1 on 11 March 2017, after internal review and discussion with the clinical team.
9 Mar 2017, Gel status: 1
Gene classified by Genomics England curator
Sarah Leigh (Genomics England Curator)This gene has been classified as Red List (Low Evidence).
9 Mar 2017, Gel status: 0
Set Mode of Inheritance
Sarah Leigh (Genomics England Curator)Mode of inheritance for PTPN11 was changed to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
9 Mar 2017, Gel status: 0
Set Phenotypes
Sarah Leigh (Genomics England Curator)Phenotypes for PTPN11 were set to LEOPARD syndrome 1 151100; Metachondromatosis 156250; Noonan syndrome 1 163950; Myelodysplastic syndrome (MDS), Paediatric
17 Feb 2017, Gel status: 0
Created
Louise Daugherty (Genomics England Curator)PTPN11 was created by LouiseD
17 Feb 2017, Gel status: 0
Added New Source
Louise Daugherty (Genomics England Curator)PTPN11 was added to Cytopaenias and congenital anaemiaspanel. Sources: BRIDGE consortium (NIHRBR-RD)