Gene Symbol:
KCNJ11
HGNC:6257
Locus Group:
protein-coding gene
Locus Type:
gene with protein product
Location:
11p15.1
Filters:

Autosomal dominant hyperinsulinism due to Kir6.2 deficiency classifications

autosomal dominant hyperinsulinism due to Kir6.2 deficiency
Submitted as: Orphanet:276580
AD
09/14/2021
Evaluated
09/14/2021
Submitted

Autosomal recessive hyperinsulinism due to Kir6.2 deficiency classifications

autosomal recessive hyperinsulinism due to Kir6.2 deficiency
Submitted as: Orphanet:79644
AR
09/14/2021
Evaluated
09/14/2021
Submitted

DEND syndrome classifications

AD
09/14/2021
Evaluated
09/14/2021
Submitted

Diabetes mellitus, noninsulin-dependent classifications

diabetes mellitus, noninsulin-dependent
Submitted as: OMIM:125853
AD
02/19/2020
Evaluated
03/31/2021
Submitted

Diabetes mellitus, permanent neonatal 2 classifications

diabetes mellitus, permanent neonatal 2
Submitted as: OMIM:618856
AD
02/19/2020
Evaluated
03/31/2021
Submitted

Diabetes mellitus, transient neonatal, 3 classifications

diabetes mellitus, transient neonatal, 3
Submitted as: OMIM:610582
AD
02/19/2020
Evaluated
03/31/2021
Submitted
diabetes mellitus, transient neonatal, 3
Submitted as: OMIM:610582
AD
07/22/2015
Evaluated
07/01/2021
Submitted
diabetes mellitus, transient neonatal, 3
Submitted as: OMIM:610582
AD
09/07/2021
Evaluated
11/30/2023
Submitted

Diazoxide-resistant focal hyperinsulinism due to Kir6.2 deficiency classifications

diazoxide-resistant focal hyperinsulinism due to Kir6.2 deficiency
Submitted as: Orphanet:276603
AR
09/14/2021
Evaluated
09/14/2021
Submitted

Hyperinsulinemic hypoglycemia, familial, 2 classifications

hyperinsulinemic hypoglycemia, familial, 2
AR
08/20/2018
Evaluated
10/13/2020
Submitted
hyperinsulinemic hypoglycemia, familial, 2
Submitted as: OMIM:601820
AD
02/19/2020
Evaluated
03/31/2021
Submitted
hyperinsulinemic hypoglycemia, familial, 2
Submitted as: OMIM:601820
AR
02/19/2020
Evaluated
03/31/2021
Submitted
hyperinsulinemic hypoglycemia, familial, 2
Submitted as: OMIM:601820
AR
07/18/2018
Evaluated
03/02/2021
Submitted
hyperinsulinemic hypoglycemia, familial, 2
Submitted as: OMIM:601820
AR
06/26/2023
Evaluated
11/30/2023
Submitted

Intermediate DEND syndrome classifications

intermediate DEND syndrome
Submitted as: Orphanet:99989
AD
09/14/2021
Evaluated
09/14/2021
Submitted

Maturity-onset diabetes of the young classifications

maturity-onset diabetes of the young
Submitted as: Orphanet:552
AD
09/14/2021
Evaluated
09/14/2021
Submitted

Maturity-onset diabetes of the young type 13 classifications

maturity-onset diabetes of the young type 13
Submitted as: OMIM:616329
AD
02/19/2020
Evaluated
03/31/2021
Submitted
maturity-onset diabetes of the young type 13
Submitted as: OMIM:616329
AD
10/05/2022
Evaluated
11/30/2023
Submitted

Monogenic diabetes classifications

AD
01/05/2023
Evaluated
04/21/2024
Submitted

Permanent neonatal diabetes mellitus classifications

permanent neonatal diabetes mellitus
Submitted as: Orphanet:99885
AD
09/14/2021
Evaluated
09/14/2021
Submitted

Transient neonatal diabetes mellitus classifications

transient neonatal diabetes mellitus
Submitted as: Orphanet:99886
AD
09/14/2021
Evaluated
09/14/2021
Submitted

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