Monogenic short stature
Gene: PTPN11EnsemblGeneIds (GRCh38): ENSG00000179295
EnsemblGeneIds (GRCh37): ENSG00000179295
OMIM: 176876, Gene2Phenotype
PTPN11 is in 29 panels
1 review
Rebecca Foulger (Genomics England curator)
Following discussion with members of the Endocrine Specialist Group at the Webex call on 23.05.19, it was agreed that genes associated with RASopathies should be included on this panel, excluding NF1. Therefore kept on the panel as a Green gene.Created: 30 May 2019, 9:54 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
LEOPARD syndrome; LEOPARD syndrome 1; Noonan syndrome; Noonan syndrome 1
Publications
Mode of pathogenicity
Other - please provide details in the comments
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Green
- Phenotypes
-
- LEOPARD syndrome 1, OMIM:151100
- Noonan syndrome 1, OMIM:163950
- 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
- Hereditary neuropathy
- Fetal hydrops
- Haematological malignancies for rare disease
- Intellectual disability
- Sarcoma of possible germline origin
- RASopathies
- IUGR and IGF abnormalities
- Pigmentary skin disorders
- Fetal anomalies
- Childhood solid tumours cancer susceptibility
- Embryonal tumour of possible germline origin
- Cytopenia - NOT Fanconi anaemia
- Monogenic short stature
- Cytopenias and congenital anaemias
- Neurofibromatosis Type 1
- Skeletal dysplasia
- Hereditary neuropathy or pain disorder
- Rare syndromic craniosynostosis or isolated multisuture synostosis
- DDG2P
- Childhood solid tumours
- Inherited bleeding disorders
- Paediatric or syndromic cardiomyopathy
- Bleeding and platelet disorders
History Filter Activity
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Arina Puzriakova (Genomics England Curator)gene: PTPN11 was added gene: PTPN11 was added to Monogenic short stature. Sources: Expert Review Green Mode of inheritance for gene: PTPN11 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: PTPN11 were set to 17603483; 11704759; 12529711; 12634870; 15384080; 15240615; 16263833; 17497712; 18678287 Phenotypes for gene: PTPN11 were set to LEOPARD syndrome 1, OMIM:151100; Noonan syndrome 1, OMIM:163950