Gene Symbol:
PTEN
HGNC:9588
Locus Group:
protein-coding gene
Locus Type:
gene with protein product
Location:
10q23.31
Filters:

Activated PI3K-delta syndrome classifications

activated PI3K-delta syndrome
Submitted as: Orphanet:397596
AD
09/14/2021
Evaluated
09/14/2021
Submitted

Bannayan-Riley-Ruvalcaba syndrome classifications

Bannayan-Riley-Ruvalcaba syndrome
Submitted as: Orphanet:109
AD
09/14/2021
Evaluated
09/14/2021
Submitted

Cowden disease classifications

Cowden disease
Submitted as: Orphanet:201
AD
09/14/2021
Evaluated
09/14/2021
Submitted

Cowden syndrome 1 classifications

Cowden syndrome 1
Submitted as: OMIM:158350
AD
09/24/2017
Evaluated
09/11/2023
Submitted
Cowden syndrome 1
Submitted as: OMIM:158350
AD
10/15/2020
Evaluated
03/31/2021
Submitted
Cowden syndrome 1
Submitted as: OMIM:158350
AD
01/29/2021
Evaluated
03/31/2021
Submitted
Cowden syndrome 1
Submitted as: OMIM:158350
AD
10/31/2023
Evaluated
11/30/2023
Submitted
Cowden syndrome 1
Submitted as: OMIM:158350
AD
07/31/2015
Evaluated
03/02/2021
Submitted
Cowden syndrome 1
Submitted as: OMIM:158350
AD
08/31/2018
Evaluated
03/02/2021
Submitted

Glioma susceptibility 2 classifications

glioma susceptibility 2
Submitted as: OMIM:613028
AD
08/31/2018
Evaluated
03/02/2021
Submitted

Leiomyosarcoma classifications

AR
02/11/2021
Evaluated
03/31/2021
Submitted

Lhermitte-Duclos disease classifications

Lhermitte-Duclos disease
Submitted as: Orphanet:65285
AD
09/14/2021
Evaluated
09/14/2021
Submitted

Macrocephaly-autism syndrome classifications

macrocephaly-autism syndrome
Submitted as: OMIM:605309
AD
07/22/2015
Evaluated
11/25/2020
Submitted
macrocephaly-autism syndrome
Submitted as: OMIM:605309
AD
01/29/2021
Evaluated
03/31/2021
Submitted
macrocephaly-autism syndrome
Submitted as: OMIM:605309
AD
03/31/3016
Evaluated
03/02/2021
Submitted
macrocephaly-autism syndrome
Submitted as: Orphanet:210548
AD
09/14/2021
Evaluated
09/14/2021
Submitted

PTEN hamartoma tumor syndrome classifications

PTEN hamartoma tumor syndrome
AD
04/05/2024
Evaluated
04/21/2024
Submitted

Proteus syndrome classifications

Proteus syndrome
Submitted as: OMIM:176920
SM
07/22/2015
Evaluated
11/25/2020
Submitted
Proteus syndrome
Submitted as: OMIM:176920
AD
07/22/2015
Evaluated
09/11/2023
Submitted

Proteus-like syndrome classifications

Proteus-like syndrome
Submitted as: Orphanet:2969
AD
09/14/2021
Evaluated
09/14/2021
Submitted

Renal cell carcinoma classifications

renal cell carcinoma
AD
03/04/2020
Evaluated
03/31/2021
Submitted

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