Skeletal dysplasia
Gene: PTPN11EnsemblGeneIds (GRCh38): ENSG00000179295
EnsemblGeneIds (GRCh37): ENSG00000179295
OMIM: 176876, Gene2Phenotype
PTPN11 is in 27 panels
4 reviews
Tracy Lester (Genetics laboratory, Oxford UK)
disorganized development of skeletal components gp of SD -several cases; Review on behalf of Tracy LesterCreated: 6 Mar 2019, 11:44 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
LEOPARD syndrome 1 151100; Metachondromatosis 156250; Noonan syndrome 1 163950
Eleanor Williams (Genomics England Curator)
This gene was part of an initial gene list collated by Tracy Lester, Oxford Medical Genetics Laboratories, Oxford University Hospitals NHS Foundation Trust, February 2019 on behalf of the GMS Musculoskeletal Specialist Group; Gene symbol submitted: PTPN11; Initial rating suggestion: greenCreated: 6 Mar 2019, 11:36 a.m.
Sarah Leigh (Genomics England Curator)
Comment when marking as ready: Associated with phenotypes in G2P. Numerous variants reported in these phenotypes.Created: 12 Jul 2016, 12:03 p.m.
Comment on phenotypes: Somatic variants also reported in Leukemia, juvenile myelomonocytic, 607785Created: 12 Jul 2016, 12:02 p.m.
Ana Beleza (Bristol Regional Genetics Service)
Tier 3Created: 17 Jun 2016, 8:07 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Metachondromatosis 156250; Noonan syndrome 1 163950
Variants in this GENE are reported as part of current diagnostic practice
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- NHS GMS
- Expert Review Green
- Radboud University Medical Center, Nijmegen
- Illumina TruGenome Clinical Sequencing Services
- UKGTN
- Emory Genetics Laboratory
- Expert list
- Phenotypes
-
- Metachondromatosis 156250
- LEOPARD syndrome 1 151100
- Noonan syndrome 1 163950
- LEOPARD syndrome 1 151100
- OMIM
- 176876
- Clinvar variants
- Variants in PTPN11
- Penetrance
- Complete
- Panels with this gene
-
- Rare syndromic craniosynostosis or isolated multisuture synostosis
- Primary lymphoedema
- Childhood solid tumours cancer susceptibility
- Intellectual disability
- Cytopenia - NOT Fanconi anaemia
- Cytopenias and congenital anaemias
- Hereditary neuropathy
- Bleeding and platelet disorders
- DDG2P
- Haematological malignancies cancer susceptibility
- Pigmentary skin disorders
- Monogenic short stature
- Osteogenesis imperfecta
- Neurofibromatosis Type 1
- Fetal hydrops
- Haematological malignancies for rare disease
- Hereditary neuropathy or pain disorder
- Childhood solid tumours
- Adult solid tumours cancer susceptibility
- RASopathies
- IUGR and IGF abnormalities
- Hypertrophic cardiomyopathy
- Mosaic skin disorders - deep sequencing
- Paediatric or syndromic cardiomyopathy
- Inherited bleeding disorders
- Skeletal dysplasia
- Fetal anomalies
History Filter Activity
Set Phenotypes
Eleanor Williams (Genomics England Curator)Added phenotypes Metachondromatosis 156250; LEOPARD syndrome 1 151100; Noonan syndrome 1 163950 for gene: PTPN11
Added New Source, Status Update
Eleanor Williams (Genomics England Curator)Source NHS GMS was added to PTPN11. Rating Changed from Green List (high evidence) to Green List (high evidence)
panel promoted to version 1
Sarah Leigh (Genomics England Curator)Promoted to version 1 9th August 2016
Gene classified by Genomics England curator
Sarah Leigh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Set Phenotypes
Sarah Leigh (Genomics England Curator)Phenotypes for PTPN11 were set to LEOPARD syndrome 1 151100; Metachondromatosis 156250; Noonan syndrome 1 163950
Set Mode of Inheritance
Sarah Leigh (Genomics England Curator)Mode of inheritance for PTPN11 was changed to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Upload gene information
Sarah Leigh (Genomics England Curator)PTPN11 was added to Unexplained skeletal dysplasiapanel. Sources: Emory Genetics Laboratory,Expert list,Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen,UKGTN
Created
Sarah Leigh (Genomics England Curator)PTPN11 was created by sleigh
Added New Source
Sarah Leigh (Genomics England Curator)PTPN11 was added to Unexplained skeletal dysplasiapanel. Sources: