Osteogenesis imperfecta
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
Rebecca Pollitt (Sheffield Diagnostic Genetics Service ; University of Sheffield)
Meena Balasubramanian (Sheffield Children's NHS Foundation Trust)
Remove from panelCreated: 27 Nov 2015, 3:04 p.m.
Details
- Sources
-
- Expert Review Removed
- Emory Genetics Laboratory
- Phenotypes
-
- Proportionate Short Stature/Small for Gestational Age
- Disproportionate Short Stature
- Tags
- OMIM
- 176876
- Clinvar variants
- Variants in PTPN11
- Penetrance
- Complete
- Panels with this gene
-
- Haematological malignancies cancer susceptibility
- DDG2P
- Hereditary neuropathy or pain disorder
- Monogenic short stature
- Fetal anomalies
- Mosaic skin disorders - deep sequencing
- 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
- Skeletal dysplasia
- Hereditary neuropathy
- Childhood solid tumours cancer susceptibility
- Primary lymphoedema
- Cytopenias and congenital anaemias
- Neurofibromatosis Type 1
- Intellectual disability
- Embryonal tumour of possible germline origin
- Hypertrophic cardiomyopathy
- Osteogenesis imperfecta
- Adult solid tumours cancer susceptibility
- Pigmentary skin disorders
- Childhood solid tumours
- Sarcoma of possible germline origin
- Inherited bleeding disorders
- Cytopenia - NOT Fanconi anaemia
History Filter Activity
26 Feb 2021, Gel status: 0
Added Tag
Arina Puzriakova (Genomics England Curator)Tag curated_removed tag was added to gene: PTPN11.
14 May 2016, Gel status: 0
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been removed from the panel.
20 Jul 2015, Gel status: 1
Added New Source
Ellen McDonagh (Genomics England Curator)PTPN11 was added to Osteogenesis Imperfecta panel. Sources: Emory Genetics Laboratory