This Panel is marked as Internal
Groopman et al 2019 - Genes with diagnostic variants
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
Eleanor Williams (Genomics England Curator)
From Groopman et al 2019 Table S7. Gene symbol: PTPN11; Inheritance: AD; Clinical diagnosis: Diabetic nephropathy; Nephropathy of unknown origin; Genetic diagnosis: Noonan syndrome 1; OMIM phenotype MIM no.:163950; Number of cases: 2Created: 2 Jul 2019, 9:46 p.m. | Last Modified: 2 Jul 2019, 9:46 p.m.
Panel Version: 0.4
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
- Sources
-
- Expert Review Amber
- Exper review amber
- Literature
- Phenotypes
-
- Noonan syndrome 1
- MIM 163950
- Nephropathy of unknown origin
- Diabetic nephropathy
- OMIM
- 176876
- Clinvar variants
- Variants in PTPN11
- Penetrance
- None
- Panels with this gene
-
- Cytopenia - NOT Fanconi anaemia
- Haematological malignancies cancer susceptibility
- Fetal anomalies
- DDG2P
- Mosaic skin disorders - deep sequencing
- Hereditary neuropathy or pain disorder
- Fetal hydrops
- Rare syndromic craniosynostosis or isolated multisuture synostosis
- Haematological malignancies for rare disease
- Paediatric or syndromic cardiomyopathy
- RASopathies
- IUGR and IGF abnormalities
- Bleeding and platelet disorders
- Hereditary neuropathy
- Skeletal dysplasia
- Childhood solid tumours cancer susceptibility
- Primary lymphoedema
- Cytopenias and congenital anaemias
- Neurofibromatosis Type 1
- Embryonal tumour of possible germline origin
- Hypertrophic cardiomyopathy
- Osteogenesis imperfecta
- Monogenic short stature
- Adult solid tumours cancer susceptibility
- Pigmentary skin disorders
- Childhood solid tumours
- Sarcoma of possible germline origin
- Intellectual disability
- Inherited bleeding disorders
History Filter Activity
2 Jul 2019, Gel status: 2
Added New Source, Status Update
Eleanor Williams (Genomics England Curator)Source Expert Review Amber was added to PTPN11. Rating Changed from Red List (low evidence) to Amber List (moderate evidence)
2 Jul 2019, Gel status: 1
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Eleanor Williams (Genomics England Curator)gene: PTPN11 was added gene: PTPN11 was added to Groopman et al 2019 - Genes with diagnostic variants. Sources: Literature,Exper review amber Mode of inheritance for gene: PTPN11 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: PTPN11 were set to Noonan syndrome 1; MIM 163950; Nephropathy of unknown origin; Diabetic nephropathy