Deafness_IsolatedAndComplex
Gene: PTPN11EnsemblGeneIds (GRCh38): ENSG00000179295
EnsemblGeneIds (GRCh37): ENSG00000179295
OMIM: 176876, Gene2Phenotype
PTPN11 is in 24 panels
1 review
Chirag Patel (Genetic Health Queensland)
Established gene-disease association.
Sensorineural hearing loss is present in ~20% of 'Noonan Syndrome with Multiple Lentigines'
Sources: LiteratureCreated: 15 Jul 2024, 12:45 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Noonan Syndrome with Multiple Lentigines, OMIM # 151100
Publications
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
- Literature
- Phenotypes
-
- Noonan Syndrome with Multiple Lentigines, OMIM # 151100
- 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
Chirag Patel (Genetic Health Queensland)Gene: ptpn11 has been classified as Green List (High Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Chirag Patel (Genetic Health Queensland)gene: PTPN11 was added gene: PTPN11 was added to Deafness_IsolatedAndComplex. Sources: Literature Mode of inheritance for gene: PTPN11 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: PTPN11 were set to PMID: 20301557, 32737134 Phenotypes for gene: PTPN11 were set to Noonan Syndrome with Multiple Lentigines, OMIM # 151100 Review for gene: PTPN11 was set to GREEN gene: PTPN11 was marked as current diagnostic