Hypertrophic cardiomyopathy_HCM
Gene: PTPN11EnsemblGeneIds (GRCh38): ENSG00000179295
EnsemblGeneIds (GRCh37): ENSG00000179295
OMIM: 176876, Gene2Phenotype
PTPN11 is in 24 panels
2 reviews
Bryony Thompson (Royal Melbourne Hospital)
Comment on list classification: Included as one of the recommended 29 HCM genes to test by the ClinGen HCVD GCEP due to syndromic LVH being a feature of the condition that can be mistaken for HCMCreated: 22 Aug 2024, 8:52 a.m. | Last Modified: 22 Aug 2024, 8:52 a.m.
Panel Version: 0.190
Paul De Fazio (Victorian Clinical Genetics Services)
Associated with Noonan syndrome. No association found for isolated HCM.Created: 29 Jul 2020, 2:09 a.m. | Last Modified: 29 Jul 2020, 2:09 a.m.
Panel Version: 0.89
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Noonan syndrome 1 MIM# 163950
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
- Victorian Clinical Genetics Services
- Phenotypes
-
- Noonan syndrome 1 MIM# 163950
- 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
Set publications
Bryony Thompson (Royal Melbourne Hospital)Publications for gene: PTPN11 were set to
Entity classified by Genomics England curator
Bryony Thompson (Royal Melbourne Hospital)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 1 MIM# 163950 to Noonan syndrome 1 MIM# 163950
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: ptpn11 has been classified as Red List (Low Evidence).
Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Phenotypes for gene: PTPN11 were changed from to Noonan syndrome 1 MIM# 163950
Set mode of inheritance
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Mode of inheritance for gene: PTPN11 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: ptpn11 has been classified as Red List (Low Evidence).
Created, Added New Source, Set mode of inheritance
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)gene: PTPN11 was added gene: PTPN11 was added to Hypertrophic cardiomyopathy_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: PTPN11 was set to Unknown