ClinGen Knowledge Base | Clinical Genome Resource

PTPN11

Name: PTPN11
HGNC ID: HGNC:9644
Cytogenetic Location: 12q24.13
Haploinsufficiency: Sufficient Evidence
Triplosensitivity: No Evidence

External Resources: View external resources
ClinVar Variants: View ClinVar Variants
GeneReviews®: View GeneReviews

PTPN11 - Noonan syndrome-like disorder with loose anagen hair | MONDO:0011899

Curated by	Classification	Date	Report
Gene-Disease Validity	No Reported Evidence	05/31/2018	View report

PTPN11 - Noonan syndrome with multiple lentigines | MONDO:0007893

Curated by	Classification	Date	Report
Gene-Disease Validity	Definitive	07/25/2018	View report

PTPN11 - Costello syndrome | MONDO:0009026

Curated by	Classification	Date	Report
Gene-Disease Validity	Disputed	07/24/2018	View report

PTPN11 - cardiofaciocutaneous syndrome | MONDO:0015280

Curated by	Classification	Date	Report
Gene-Disease Validity	Disputed	05/30/2018	View report

PTPN11 - Noonan syndrome | MONDO:0018997

Curated by	Classification	Date	Report
Gene-Disease Validity	Definitive	07/24/2018	View report

PTPN11 - Noonan syndrome 1 | MONDO:0008104

Curated by	Classification	Date	Report
Gene Dosage Sensitivity	No Evidence for Triplosensitivity	06/13/2017	View report

PTPN11 - metachondromatosis | MONDO:0007979

Curated by	Classification	Date	Report
Gene Dosage Sensitivity	Sufficient Evidence for Haploinsufficiency	06/13/2017	View report

PTPN11

Curated by	Classification	Date	Report
Gene Dosage Sensitivity	Sufficient Evidence for Haploinsufficiency	06/13/2017	View report
Gene Dosage Sensitivity	No Evidence for Triplosensitivity	06/13/2017	View report

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