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

Definitive classifications

hyperinsulinemic hypoglycemia, familial, 2
AR
08/20/2018
Evaluated
10/13/2020
Submitted
hyperinsulinemic hypoglycemia, familial, 2
Submitted as: OMIM:601820
AR
07/18/2018
Evaluated
03/02/2021
Submitted
diabetes mellitus, transient neonatal, 3
Submitted as: OMIM:610582
AD
07/22/2015
Evaluated
07/01/2021
Submitted
AD
08/21/2020
Evaluated
08/16/2021
Submitted

Strong classifications

diabetes mellitus, transient neonatal, 3
Submitted as: OMIM:610582
AD
02/19/2020
Evaluated
03/31/2021
Submitted
maturity-onset diabetes of the young type 13
Submitted as: OMIM:616329
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
diabetes mellitus, noninsulin-dependent
Submitted as: OMIM:125853
AD
02/19/2020
Evaluated
03/31/2021
Submitted
diabetes mellitus, permanent neonatal 2
Submitted as: OMIM:618856
AD
02/19/2020
Evaluated
03/31/2021
Submitted
hyperinsulinemic hypoglycemia, familial, 2
Submitted as: OMIM:601820
AD
02/19/2020
Evaluated
03/31/2021
Submitted
hyperinsulinemic hypoglycemia
Submitted as: OMIM:601820
AR
04/05/2021
Evaluated
02/03/2022
Submitted

Supportive classifications

maturity-onset diabetes of the young
Submitted as: Orphanet:552
AD
09/14/2021
Evaluated
09/14/2021
Submitted
AD
09/14/2021
Evaluated
09/14/2021
Submitted
autosomal recessive hyperinsulinism due to Kir6.2 deficiency
Submitted as: Orphanet:79644
AR
09/14/2021
Evaluated
09/14/2021
Submitted
permanent neonatal diabetes mellitus
Submitted as: Orphanet:99885
AD
09/14/2021
Evaluated
09/14/2021
Submitted
transient neonatal diabetes mellitus
Submitted as: Orphanet:99886
AD
09/14/2021
Evaluated
09/14/2021
Submitted
intermediate DEND syndrome
Submitted as: Orphanet:99989
AD
09/14/2021
Evaluated
09/14/2021
Submitted
autosomal dominant hyperinsulinism due to Kir6.2 deficiency
Submitted as: Orphanet:276580
AD
09/14/2021
Evaluated
09/14/2021
Submitted
diazoxide-resistant focal hyperinsulinism due to Kir6.2 deficiency
Submitted as: Orphanet:276603
AR
09/14/2021
Evaluated
09/14/2021
Submitted

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