Gene Symbol:
ABCC8
HGNC:59
Locus Group:
protein-coding gene
Locus Type:
gene with protein product
Location:
11p15.1
Filters:

Autosomal dominant hyperinsulinism due to SUR1 deficiency classifications

autosomal dominant hyperinsulinism due to SUR1 deficiency
Submitted as: Orphanet:276575
AD
09/14/2021
Evaluated
09/14/2021
Submitted

Autosomal recessive hyperinsulinism due to SUR1 deficiency classifications

autosomal recessive hyperinsulinism due to SUR1 deficiency
Submitted as: Orphanet:79643
AR
09/14/2021
Evaluated
09/14/2021
Submitted

DEND syndrome classifications

DEND syndrome
Submitted as: Orphanet:79134
AD
09/14/2021
Evaluated
09/14/2021
Submitted

Diabetes mellitus, noninsulin-dependent classifications

diabetes mellitus, noninsulin-dependent
Submitted as: OMIM:125853
AD
01/29/2021
Evaluated
03/31/2021
Submitted

Diabetes mellitus, permanent neonatal 3 classifications

diabetes mellitus, permanent neonatal 3
Submitted as: OMIM:618857
AD
02/19/2020
Evaluated
03/31/2021
Submitted
diabetes mellitus, permanent neonatal 3
Submitted as: OMIM:618857
AR
02/19/2020
Evaluated
03/31/2021
Submitted
diabetes mellitus, permanent neonatal 3
Submitted as: OMIM:618857
SD
04/26/2019
Evaluated
03/02/2021
Submitted
diabetes mellitus, permanent neonatal 3
Submitted as: OMIM:618857
AR
08/25/2023
Evaluated
11/30/2023
Submitted

Diabetes mellitus, transient neonatal, 2 classifications

diabetes mellitus, transient neonatal, 2
Submitted as: OMIM:610374
Unknown
01/29/2021
Evaluated
03/31/2021
Submitted
diabetes mellitus, transient neonatal, 2
Submitted as: OMIM:610374
AD
10/15/2021
Evaluated
11/30/2023
Submitted

Diazoxide-resistant focal hyperinsulinism due to SUR1 deficiency classifications

diazoxide-resistant focal hyperinsulinism due to SUR1 deficiency
Submitted as: Orphanet:276598
AD
09/14/2021
Evaluated
09/14/2021
Submitted

Familial hyperinsulinism classifications

Hyperinsulinemic hypoglycemia, familial, 1 classifications

hyperinsulinemic hypoglycemia, familial, 1
AD
03/29/2019
Evaluated
10/15/2020
Submitted
hyperinsulinemic hypoglycemia, familial, 1
Submitted as: OMIM:256450
AD
01/29/2021
Evaluated
03/31/2021
Submitted
hyperinsulinemic hypoglycemia, familial, 1
Submitted as: OMIM:256450
AR
01/29/2021
Evaluated
03/31/2021
Submitted
hyperinsulinemic hypoglycemia, familial, 1
Submitted as: OMIM:256450
SD
10/12/2015
Evaluated
03/02/2021
Submitted
hyperinsulinemic hypoglycemia, familial, 1
Submitted as: OMIM:256450
AD
05/26/2023
Evaluated
11/30/2023
Submitted
hyperinsulinemic hypoglycemia, familial, 1
Submitted as: OMIM:256450
AR
05/26/2023
Evaluated
11/30/2023
Submitted

Hypoglycemia, leucine-induced classifications

hypoglycemia, leucine-induced
Submitted as: OMIM:240800
AD
01/29/2021
Evaluated
03/31/2021
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

Monogenic diabetes classifications

monogenic diabetes
SD
07/24/2022
Evaluated
10/18/2023
Submitted

Permanent neonatal diabetes mellitus classifications

permanent neonatal diabetes mellitus
AR
01/29/2021
Evaluated
03/31/2021
Submitted
permanent neonatal diabetes mellitus
Submitted as: Orphanet:99885
AD
09/14/2021
Evaluated
09/14/2021
Submitted

Pulmonary arterial hypertension classifications

pulmonary arterial hypertension
AD
10/10/2022
Evaluated
10/18/2023
Submitted

Transient neonatal diabetes mellitus classifications

transient neonatal diabetes mellitus
AD
01/29/2021
Evaluated
03/31/2021
Submitted
transient neonatal diabetes mellitus
Submitted as: Orphanet:99886
AD
09/14/2021
Evaluated
09/14/2021
Submitted

Type 2 diabetes mellitus classifications

type 2 diabetes mellitus
Submitted as: OMIM:125853
AD
05/19/2017
Evaluated
11/30/2023
Submitted

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