This Panel is marked as Deleted
GMS Musculoskeletal specialist test group Skeletal dysplasia
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
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, 11:52 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
LEOPARD syndrome 1 151100; Metachondromatosis 156250; Noonan syndrome 1 163950
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Green
- NHS GMS
- Phenotypes
-
- Metachondromatosis 156250
- LEOPARD syndrome 1 151100
- Noonan syndrome 1 163950
- OMIM
- 176876
- Clinvar variants
- Variants in PTPN11
- Penetrance
- None
- 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
6 Mar 2019, Gel status: 4
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Eleanor Williams (Genomics England Curator)gene: PTPN11 was added gene: PTPN11 was added to GMS Musculoskeletal specialist test group Skeletal dysplasia. Sources: NHS GMS,Expert Review Green Mode of inheritance for gene: PTPN11 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: PTPN11 were set to Metachondromatosis 156250; LEOPARD syndrome 1 151100; Noonan syndrome 1 163950