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 27 panels
EnsemblGeneIds (GRCh38): ENSG00000179295
EnsemblGeneIds (GRCh37): ENSG00000179295
OMIM: 176876, Gene2Phenotype
PTPN11 is in 27 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
-
- Cytopenia - NOT Fanconi anaemia
- Cytopenias and congenital anaemias
- Hereditary neuropathy
- Bleeding and platelet disorders
- DDG2P
- Haematological malignancies cancer susceptibility
- Intellectual disability
- Pigmentary skin disorders
- Monogenic short stature
- Osteogenesis imperfecta
- Neurofibromatosis Type 1
- Fetal hydrops
- Haematological malignancies for rare disease
- 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
- Fetal anomalies
- Hereditary neuropathy or pain disorder
- Skeletal dysplasia
- Rare syndromic craniosynostosis or isolated multisuture synostosis
- Primary lymphoedema
- Childhood solid tumours cancer susceptibility
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)