Growth failure
Gene: PTPN11EnsemblGeneIds (GRCh38): ENSG00000179295
EnsemblGeneIds (GRCh37): ENSG00000179295
OMIM: 176876, Gene2Phenotype
PTPN11 is in 24 panels
1 review
Michelle Torres (Victorian Clinical Genetics Services)
Genotype-phenotype correlation summary for phenotypes caused by germline variants:
1. LEOPARD (Noonan syndrome with multiple lentigines): missense in active site of PTP domain resulting in GoF (PMID: 24935154)
2. Metachondromatosis: LoF variants caused by protein truncating variants (PMID: 21533187)
3. Noonan: missense clustered between N-SH2 and PTP domains resulting in GoF (PMID: 11992261, PMID: 24935154)Created: 20 Mar 2020, 2:34 a.m. | Last Modified: 20 Mar 2020, 2:34 a.m.
Panel Version: 0.11
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
LEOPARD syndrome 1, 151100 AD (for reporting use Noonan syndrome with multiple lentigines); Metachondromatosis, 156250 AD; Noonan syndrome 1, 163950 AD; Leukemia, juvenile myelomonocytic, somatic, 607785
Publications
Mode of pathogenicity
Other
Variants in this GENE are reported as part of current diagnostic practice
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Green
- Genomics England PanelApp
- Phenotypes
-
- LEOPARD syndrome 1, 151100 AD (for reporting use Noonan syndrome with multiple lentigines)
- Noonan syndrome 1, MIM#163950
- OMIM
- 176876
- Clinvar variants
- Variants in PTPN11
- Penetrance
- None
- Publications
- Mode of Pathogenicity
- Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
- Panels with this gene
-
- Callosome
- Growth failure
- Cerebral Palsy
- Autism
- Hypertrophic cardiomyopathy_HCM
- Rasopathy
- Deafness_IsolatedAndComplex
- Cardiomyopathy_Paediatric
- Lymphoedema_syndromic
- BabyScreen+ newborn screening
- Hydrops fetalis
- Intellectual disability syndromic and non-syndromic
- Bleeding and Platelet Disorders
- Transplant Co-Morbidity Superpanel
- Cancer Predisposition_Paediatric
- Vascular Malformations_Germline
- Macrocephaly_Megalencephaly
- Craniosynostosis
- Skeletal dysplasia
- Fetal anomalies
- Additional findings_Paediatric
- Congenital Heart Defect
- Mosaic skin disorders
- Mendeliome
History Filter Activity
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: ptpn11 has been classified as Green List (High Evidence).
Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Phenotypes for gene: PTPN11 were changed from Noonan syndrome; LEOPARD syndrome 1; Noonan syndrome 1; LEOPARD syndrome to LEOPARD syndrome 1, 151100 AD (for reporting use Noonan syndrome with multiple lentigines); Noonan syndrome 1, MIM#163950
Set mode of pathogenicity
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Mode of pathogenicity for gene: PTPN11 was changed from Other - please provide details in the comments to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes, Set mode of pathogenicity
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)gene: PTPN11 was added gene: PTPN11 was added to Growth failure in early childhood. Sources: Genomics England PanelApp,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 16263833; 17603483; 17497712; 12634870; 11704759; 18678287; 15384080; 15240615; 12529711 Phenotypes for gene: PTPN11 were set to Noonan syndrome; LEOPARD syndrome 1; Noonan syndrome 1; LEOPARD syndrome Mode of pathogenicity for gene: PTPN11 was set to Other - please provide details in the comments