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
-
- Cytopenia - NOT Fanconi anaemia
- Intellectual disability
- Pigmentary skin disorders
- Embryonal tumour of possible germline origin
- Mosaic skin disorders - deep sequencing
- Sarcoma of possible germline origin
- Fetal hydrops
- Fetal anomalies
- Haematological malignancies for rare disease
- Skeletal dysplasia
- Monogenic short stature
- RASopathies
- IUGR and IGF abnormalities
- Hypertrophic cardiomyopathy
- Hereditary neuropathy
- Childhood solid tumours cancer susceptibility
- Haematological malignancies cancer susceptibility
- Paediatric or syndromic cardiomyopathy
- Hereditary neuropathy or pain disorder
- Bleeding and platelet disorders
- Primary lymphoedema
- Cytopenias and congenital anaemias
- Rare syndromic craniosynostosis or isolated multisuture synostosis
- Neurofibromatosis Type 1
- Childhood solid tumours
- Osteogenesis imperfecta
- Adult solid tumours cancer susceptibility
- DDG2P
- Inherited bleeding 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