Cytopenia - NOT Fanconi anaemia
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
Louise Daugherty (Genomics England Curator)
Gene reviewed due to Haematology Specialist Test Group considering the inclusion of relevant neutropenia thrombocytopenia genes. The Specialist Test Group 21st October 2019 (consisting of 4 centres: WWMGLH, NWGLH, YNEGLH, LSGLH) all agree to rate this gene Red on this panel. Additional comments from Haematology Specialist Test Group (Copy of Extra genes R91_consensus_v2.xlsx) 21st October 2019. Wessex and West Midlands GLH: Noonan syndrome but patients can present with thrombocytopenia; North West GLH: Syndromic, not isolated thrombocytopenia; Yorkshire and North East GLH: no comment submitted; London South GLH: no comment submitted.Created: 4 Nov 2019, 7:30 p.m. | Last Modified: 4 Nov 2019, 7:30 p.m.
Panel Version: 0.135
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
- Sources
-
- Expert Review Red
- Expert review Red
- NHS GMS
- North West GLH
- London South GLH
- Yorkshire and North East GLH
- Wessex and West Midlands GLH
- Phenotypes
-
- Noonan syndrome 1, 163950
- OMIM
- 176876
- Clinvar variants
- Variants in PTPN11
- Penetrance
- None
- Panels with this gene
-
- Primary lymphoedema
- Hypertrophic cardiomyopathy
- Adult solid tumours cancer susceptibility
- Haematological malignancies cancer susceptibility
- Osteogenesis imperfecta
- Mosaic skin disorders - deep sequencing
- DDG2P
- Hereditary neuropathy
- Fetal hydrops
- Skeletal dysplasia
- Haematological malignancies for rare disease
- Sarcoma of possible germline origin
- RASopathies
- IUGR and IGF abnormalities
- Intellectual disability
- Pigmentary skin disorders
- Childhood solid tumours cancer susceptibility
- Embryonal tumour of possible germline origin
- Cytopenia - NOT Fanconi anaemia
- Monogenic short stature
- Rare syndromic craniosynostosis or isolated multisuture synostosis
- Hereditary neuropathy or pain disorder
- Cytopenias and congenital anaemias
- Neurofibromatosis Type 1
- Fetal anomalies
- Childhood solid tumours
- Inherited bleeding disorders
- Paediatric or syndromic cardiomyopathy
- Bleeding and platelet disorders
History Filter Activity
4 Nov 2019, Gel status: 1
Added New Source
Louise Daugherty (Genomics England Curator)Source Expert Review Red was added to PTPN11.
4 Nov 2019, Gel status: 1
Added New Source
Louise Daugherty (Genomics England Curator)Source Expert review Red was added to PTPN11.
4 Nov 2019, Gel status: 1
Set mode of inheritance, Set Phenotypes
Louise Daugherty (Genomics England Curator)Mode of inheritance for gene PTPN11 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Added phenotypes Noonan syndrome 1, 163950 for gene: PTPN11
4 Nov 2019, Gel status: 1
Created, Added New Source, Set mode of inheritance
Louise Daugherty (Genomics England Curator)gene: PTPN11 was added gene: PTPN11 was added to Cytopenia - NOT Fanconi anaemia. Sources: Wessex and West Midlands GLH,Yorkshire and North East GLH,London South GLH,North West GLH,NHS GMS Mode of inheritance for gene: PTPN11 was set to