Growth failure in early childhood
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
- Mode of Pathogenicity
- Other - please provide details in the comments
- Panels with this gene
-
- Cytopenia - NOT Fanconi anaemia
- Skeletal dysplasia
- Pigmentary skin disorders
- Fetal hydrops
- Paediatric or syndromic cardiomyopathy
- Haematological malignancies for rare disease
- Intellectual disability
- Embryonal tumour of possible germline origin
- RASopathies
- IUGR and IGF abnormalities
- Hypertrophic cardiomyopathy
- Mosaic skin disorders - deep sequencing
- DDG2P
- Hereditary neuropathy
- Fetal anomalies
- Childhood solid tumours cancer susceptibility
- Haematological malignancies cancer susceptibility
- Cytopenias and congenital anaemias
- Rare syndromic craniosynostosis or isolated multisuture synostosis
- Bleeding and platelet disorders
- Monogenic short stature
- Neurofibromatosis Type 1
- Childhood solid tumours
- Osteogenesis imperfecta
- Adult solid tumours cancer susceptibility
- Primary lymphoedema
- Inherited bleeding disorders
- Hereditary neuropathy or pain disorder
- Sarcoma of possible germline origin
History Filter Activity
Set Phenotypes
Arina Puzriakova (Genomics England Curator)Phenotypes for gene: PTPN11 were changed from LEOPARD syndrome 1; LEOPARD syndrome; Noonan syndrome 1; Noonan syndrome to LEOPARD syndrome 1, OMIM:151100; Noonan syndrome 1, OMIM:163950
Set publications
Ivone Leong (Genomics England Curator)Publications for gene: PTPN11 were set to
Set Phenotypes
Rebecca Foulger (Genomics England curator)Added phenotypes LEOPARD syndrome 1; LEOPARD syndrome; Noonan syndrome 1; Noonan syndrome for gene: PTPN11
Created, Added New Source, Set mode of inheritance, Set mode of pathogenicity
Ellen McDonagh (Genomics England Curator)gene: PTPN11 was added gene: PTPN11 was added to Growth failure in early childhood. Sources: Expert Review Green Mode of inheritance for gene: PTPN11 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Mode of pathogenicity for gene: PTPN11 was set to Other - please provide details in the comments