Gene Symbol:
PTPN11
HGNC:9644
Locus Group:
protein-coding gene
Locus Type:
gene with protein product
Location:
12q24.13
Filters:

Definitive classifications

Noonan syndrome with multiple lentigines
AD
07/25/2018
Evaluated
10/18/2023
Submitted
LEOPARD syndrome 1
Submitted as: OMIM:151100
AD
10/09/2020
Evaluated
11/09/2020
Submitted
LEOPARD syndrome 1
Submitted as: OMIM:151100
AD
07/22/2015
Evaluated
09/11/2023
Submitted
Noonan syndrome 1
Submitted as: OMIM:163950
AD
07/22/2015
Evaluated
09/11/2023
Submitted
Noonan syndrome 1
Submitted as: OMIM:163950
AD
01/11/2017
Evaluated
03/02/2021
Submitted
Noonan syndrome and Noonan-related syndrome
AD
05/25/2022
Evaluated
09/11/2023
Submitted
AD
05/25/2022
Evaluated
09/11/2023
Submitted

Strong classifications

LEOPARD syndrome 1
Submitted as: OMIM:151100
AD
10/07/2020
Evaluated
10/08/2020
Submitted
LEOPARD syndrome 1
Submitted as: OMIM:151100
AD
03/30/2022
Evaluated
11/30/2023
Submitted
metachondromatosis
Submitted as: OMIM:156250
AD
04/01/2021
Evaluated
11/30/2023
Submitted
Noonan syndrome 1
Submitted as: OMIM:163950
AD
06/23/2023
Evaluated
11/30/2023
Submitted
Noonan syndrome 1
Submitted as: OMIM:163950
AD
10/07/2020
Evaluated
10/08/2020
Submitted
metachondromatosis
Submitted as: OMIM:156250
AD
03/16/2017
Evaluated
03/02/2021
Submitted

Supportive classifications

Noonan syndrome with multiple lentigines
Submitted as: Orphanet:500
AD
09/14/2021
Evaluated
09/14/2021
Submitted
Noonan syndrome
Submitted as: Orphanet:648
AD
09/14/2021
Evaluated
09/14/2021
Submitted
metachondromatosis
Submitted as: Orphanet:2499
AD
09/14/2021
Evaluated
09/14/2021
Submitted

Disputed Evidence classifications

cardiofaciocutaneous syndrome
AD
05/30/2018
Evaluated
10/18/2023
Submitted

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