Pigmentary skin disorders
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 Foulger (Genomics England curator)
This gene was part of an initial gene list collated by Thomas Cullup, GOSH and Veronica Kinsler, UCL, 25.Jan.2019 on behalf of the GMS Skin Specialist Test Group. Gene Symbol submitted: PTPN11; Suggested initial gene rating: Green; Evidence for inclusion: none provided; Evidence for exclusion: none provided; Technical notes (e.g. non-coding/CNV mutations requiring coverage?): none provided.Created: 31 Jan 2019, 11:31 a.m.
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- London North GLH
- NHS GMS
- Expert Review Green
- Phenotypes
-
- Noonan syndrome with lentigines (LEOPARD)
- LEOPARD SYNDROME 1
- LPRD1, NOONAN SYNDROME 1
- Noonan syndrome
- NS1
- OMIM
- 176876
- Clinvar variants
- Variants in PTPN11
- Penetrance
- None
- Publications
- 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
- Pigmentary skin disorders
- Childhood solid tumours cancer susceptibility
- Embryonal tumour of possible germline origin
- Intellectual disability
- 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
12 Dec 2019, Gel status: 3
Set Phenotypes, Set publications
Catherine Snow (Genomics England)Added phenotypes LEOPARD SYNDROME 1; NS1; LPRD1, NOONAN SYNDROME 1 for gene: PTPN11 Publications for gene PTPN11 were changed from to 11704759; 15389709
18 Feb 2019, Gel status: 4
Added New Source
Rebecca Foulger (Genomics England curator)Source London North GLH was added to PTPN11.
31 Jan 2019, Gel status: 4
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Rebecca Foulger (Genomics England curator)gene: PTPN11 was added gene: PTPN11 was added to Pigmentary skin disorders. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: PTPN11 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: PTPN11 were set to Noonan syndrome; Noonan syndrome with lentigines (LEOPARD)