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  2. Hyperinsulinism
  3. ABCC8
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Hyperinsulinism

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

1 review

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

Created: 15 Mar 2022, 3:04 a.m.
Last Modified: 15 Mar 2022, 3:04 a.m.
Panel version: Imported from Mendeliome panel version 0.11384

Details

Mode of Inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
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
OMIM
600509
Clinvar variants
Variants in ABCC8
Penetrance
None
Publications
Panels with this gene

History Filter Activity

11 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).

11 Sep 2022, Gel status: 3

Set Phenotypes

Bryony Thompson (Royal Melbourne Hospital)

Phenotypes for gene: ABCC8 were changed from to 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

11 Sep 2022, Gel status: 3

Set publications

Bryony Thompson (Royal Melbourne Hospital)

Publications for gene: ABCC8 were set to

11 Sep 2022, Gel status: 3

Set mode of inheritance

Bryony Thompson (Royal Melbourne Hospital)

Mode of inheritance for gene: ABCC8 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: ABCC8 was added gene: ABCC8 was added to Hyperinsulinism_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: ABCC8 was set to Unknown