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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

Andrew Coventry (Victorian Clinical Genetics Services)

Green List (high evidence)

PNDM: AR forms of inheritance are usually more severe, causing permanent DM with onset usually in infancy, however, PNDM can also be caused by dominant ABCC8 variants. For PNDM, those affected can present in utero (IUGR), most born with low birthweight. Ketoacidosis also common. Onset usually within first 3 months of life.

For Familial Hyperinsulinemic Hypoglycemia, infants present with elevated blood insulin levels, large for age, hypoglycemia presents within 2-3 days. Can cause severe neurological damage if untreated early in life - pancreatic surgery may be required.
For diffuse form of FHH disease, can have either AD inheritance or for AR, see PMID 36034573 and 38791571 for case reports of AR form.
For focal form of FHH disease, a paternally inherited ABCC8 variant needs rare somatic ‘second hit’ on maternal 11p arm.
Created: 29 Jul 2024, 5:28 a.m. | Last Modified: 29 Jul 2024, 5:28 a.m.
Panel Version: 1.65

Mode of inheritance
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal

Phenotypes
Diabetes mellitus, permanent neonatal 3, with or without neurologic features MIM#618857; Hyperinsulinemic hypoglycemia, familial, 1 MIM#256450

Publications

Created: 29 Jul 2024, 5:28 a.m.
Last Modified: 29 Jul 2024, 5:28 a.m.
Panel version: 1.65

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Diabetes mellitus, permanent neonatal 3, with or without neurologic features MIM#618857
  • Hyperinsulinemic hypoglycemia, familial, 1 MIM#256450
OMIM
600509
Clinvar variants
Variants in ABCC8
Penetrance
None
Publications
Panels with this gene

History Filter Activity

19 Aug 2024, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

19 Aug 2024, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: ABCC8 were changed from Hyperinsulinemic hypoglycemia, familial, 1, 256450 (3) to Diabetes mellitus, permanent neonatal 3, with or without neurologic features MIM#618857; Hyperinsulinemic hypoglycemia, familial, 1 MIM#256450

19 Aug 2024, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: ABCC8 were set to

2 Nov 2023, Gel status: 3

Set Phenotypes

Seb Lunke (Victorian Clinical Genetics Services)

Added phenotypes Hyperinsulinemic hypoglycemia, familial, 1, 256450 (3) for gene: ABCC8

1 Jun 2022, Gel status: 3

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: ABCC8 was added gene: ABCC8 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: ABCC8 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ABCC8 were set to Hyperinsulinemic hypoglycemia, familial, 1, 256450 (3)