Vascular Malformations_Germline
Gene: PTPN11EnsemblGeneIds (GRCh38): ENSG00000179295
EnsemblGeneIds (GRCh37): ENSG00000179295
OMIM: 176876, Gene2Phenotype
PTPN11 is in 24 panels
2 reviews
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
Comment when marking as ready: No evidence for association between germline variants and vascular malformations.Created: 2 Jun 2020, 8:55 a.m. | Last Modified: 2 Jun 2020, 8:55 a.m.
Panel Version: 0.93
Bryony Thompson (Royal Melbourne Hospital)
Comment on list classification: Paediatric gene that isn't suitable for testing of vascular malformations in an adult hospitalCreated: 21 Jan 2020, 2:46 a.m. | Last Modified: 4 Feb 2020, 6:56 a.m.
Panel Version: 0.69
A pathogenic de novo variant was identied in a case diagnosed with megalencephaly-capillary malformation (MCAP) syndrome. However, the cases also had a somatic mosaic variant in PIK3CA which is the usual cause of MCAP. One of the prominent features of Noonan syndrome caused by this gene is cystic hygromas.
Sources: Expert listCreated: 21 Jan 2020, 2:45 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
LEOPARD syndrome 1 151100; Noonan syndrome 1 163950; cystic hygroma
Publications
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
- Sources
-
- Expert Review Red
- Expert list
- Phenotypes
-
- LEOPARD syndrome 1 151100
- Noonan syndrome 1 163950
- cystic hygroma
- OMIM
- 176876
- Clinvar variants
- Variants in PTPN11
- Penetrance
- None
- Publications
- 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 Red List (Low Evidence).
Entity classified by Genomics England curator
Bryony Thompson (Royal Melbourne Hospital)Gene: ptpn11 has been classified as Red List (Low Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Bryony Thompson (Royal Melbourne Hospital)gene: PTPN11 was added gene: PTPN11 was added to Inherited Vascular Malformations. Sources: Expert list Mode of inheritance for gene: PTPN11 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: PTPN11 were set to 27193571; 24939587; 29907801 Phenotypes for gene: PTPN11 were set to LEOPARD syndrome 1 151100; Noonan syndrome 1 163950; cystic hygroma Review for gene: PTPN11 was set to GREEN