Maturity-onset Diabetes of the Young

Gene: ABCC8

Green List (high evidence)

ABCC8 (ATP binding cassette subfamily C member 8)
EnsemblGeneIds (GRCh38): ENSG00000006071
EnsemblGeneIds (GRCh37): ENSG00000006071
OMIM: 600509, Gene2Phenotype
ABCC8 is in 12 panels

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Maturity-onset diabetes of the young, type 12, MIM# 621196

Publications

Elena Savva (Victorian Clinical Genetics Services)

Green List (high evidence)

GOF - diabetes mellitus
LOF - hypoglycemia

Focal disease is caused by somatic loss (2nd hit) of the maternal chromosome 11p15.5 region by uniparental disomy that unmasks a paternally inherited KATP channel mutation at 11p15.1. (PMID: 32027066)
Created: 15 Mar 2022, 3:04 a.m. | Last Modified: 15 Mar 2022, 3:04 a.m.
Panel Version: 0.11384

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Phenotypes
Diabetes mellitus, noninsulin-dependent MIM#125853; Diabetes mellitus, permanent neonatal 3, with or without neurologic features MIM#618857; Diabetes mellitus, transient neonatal 2 MIM#610374; Hyperinsulinemic hypoglycemia, familial, 1 MIM#256450; Hypoglycemia of infancy, leucine-sensitive MIM#240800

Publications

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Maturity-onset diabetes of the young, type 12, MIM# 621196
OMIM
600509
Clinvar variants
Variants in ABCC8
Penetrance
None
Publications
Panels with this gene

History Filter Activity

12 May 2025, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: ABCC8 were set to 21054355; 32027066; 32376986

12 May 2025, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: ABCC8 were changed from Diabetes mellitus, permanent neonatal, 6; Hyperinsulinemic hypoglycemia, familial, 1, 256450; Transient Neonatal Diabetes, Dominant; Hypoglycemia of infancy, leucine-sensitive, 240800; Permanent Neonatal Diabetes Mellitus (recessive); Diabetes mellitus, transient neonatal 2, 610374; Diabetes mellitus, noninsulin-dependent, 125853; Permanent Neonatal Diabetes Mellitus to Maturity-onset diabetes of the young, type 12, MIM# 621196

12 May 2025, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: ABCC8 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

22 Sep 2022, Gel status: 3

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: abcc8 has been classified as Green List (High Evidence).

22 Sep 2022, Gel status: 3

Set publications

Bryony Thompson (Royal Melbourne Hospital)

Publications for gene: ABCC8 were set to

30 Dec 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Bryony Thompson (Royal Melbourne Hospital)

gene: ABCC8 was added gene: ABCC8 was added to Maturity-onset Diabetes of the Young_RMH. Sources: Expert Review Green,Royal Melbourne Hospital Mode of inheritance for gene: ABCC8 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Phenotypes for gene: ABCC8 were set to Diabetes mellitus, permanent neonatal, 6; Hyperinsulinemic hypoglycemia, familial, 1, 256450; Transient Neonatal Diabetes, Dominant; Hypoglycemia of infancy, leucine-sensitive, 240800; Permanent Neonatal Diabetes Mellitus (recessive); Diabetes mellitus, transient neonatal 2, 610374; Diabetes mellitus, noninsulin-dependent, 125853; Permanent Neonatal Diabetes Mellitus