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Variant Pathogenicity
PTPN11
Name
PTPN11
HGNC ID
HGNC:9644
Cytogenetic Location
12q24.13
Haploinsufficiency
Sufficient Evidence
Triplosensitivity
No Evidence
External Resources
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ClinVar Variants
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GeneReviews®
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External Genomic Resources
ClinVar Variants
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
08/14/2019
View report
PTPN11
-
metachondromatosis
| MONDO:0007979
Curated by
Classification
Date
Report
Gene Dosage Sensitivity
Sufficient Evidence for Haploinsufficiency
08/14/2019
View report
PTPN11
Curated by
Classification
Date
Report
Gene Dosage Sensitivity
Sufficient Evidence for Haploinsufficiency
08/14/2019
View report
Gene Dosage Sensitivity
No Evidence for Triplosensitivity
08/14/2019
View report
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