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Newborns main panel

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 11 panels

2 reviews

Arina Puzriakova (Genomics England Curator)

Special Consideration: Multiple phenotypes with same MOI included.

Additional Information: ABCC8 related hyperinsulinism (LOF) and ABCC8 related neonatal diabetes (GOF) both included.
Created: 25 Sep 2024, 11:26 a.m. | Last Modified: 18 Nov 2025, 3:52 p.m.
Panel Version: 0.480
Special Consideration: Awareness.

Additional Information: AD MOI was excluded due to large numbers of heterozygous variants being prioritised requiring manual review.
Created: 25 Sep 2024, 11:23 a.m. | Last Modified: 25 Sep 2024, 11:26 a.m.
Panel Version: 0.469
Created: 25 Sep 2024, 11:23 a.m.
Last Modified: 18 Nov 2025, 3:52 p.m.
Panel version: 0.469

Mafalda Gomes (Genomics England Curator)

The mechanism of pathogenicity is loss-of-function (LOF).
Created: 1 Jun 2023, 2:40 p.m. | Last Modified: 1 Jun 2023, 2:40 p.m.
Panel Version: 0.137
PMID: 35996042 - 14 cases AD PMID: 20685672 - 14 AR cases
Created: 1 Jun 2023, 12:22 p.m. | Last Modified: 1 Jun 2023, 12:22 p.m.
Panel Version: 0.134
Semidominant, are we only interested in AR? -> KS: Only interested in AR for the hyperinsulinism phenotype. (the AD form is rare with variable penetrance and age of onset, or requires a second hit in the developing pancreas).
I can see this has now changed and is back to AR and AD, are we now including both? -> DB: Changed to AR and AD. We should ask experts whether to include - changed note in spreadsheet - "Should AD Focal form of disease due to variant in paternal allele with LOH due to loss of maternal allele in the tumor be included?"
Created: 17 May 2023, 1:43 p.m. | Last Modified: 17 May 2023, 1:43 p.m.
Panel Version: 0.83
Created: 17 May 2023, 1:43 p.m.
Last Modified: 17 May 2023, 1:43 p.m.
Panel version: 0.137

History Filter Activity

25 Sep 2024, Gel status: 3

Added Tag

Arina Puzriakova (Genomics England Curator)

Tag special_consideration tag was added to gene: ABCC8.

14 Sep 2023, Gel status: 3

Set Phenotypes

Mafalda Gomes (Genomics England Curator)

Added phenotypes Hyperinsulinemic hypoglycemia, familial, 1 for gene: ABCC8

5 Jul 2023, Gel status: 3

Set Phenotypes

Mafalda Gomes (Genomics England Curator)

Added phenotypes Hyperinsulinemic hypoglycemia, familial, 1 for gene: ABCC8

31 May 2023, Gel status: 3

Added New Source, Set mode of inheritance, Set Phenotypes, Status Update

Mafalda Gomes (Genomics England Curator)

Source Expert Review Green was added to ABCC8. Mode of inheritance for gene ABCC8 was changed from BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Hyperinsulinemic hypoglycemia, familial, 1 for gene: ABCC8 Rating Changed from No List (delete) to Green List (high evidence)

5 May 2023, Gel status: 0

Added New Source, Set Phenotypes, Status Update

Mafalda Gomes (Genomics England Curator)

Source Expert Review Removed was added to ABCC8. Added phenotypes Hyperinsulinemic hypoglycemia, familial, 1 for gene: ABCC8 Rating Changed from Green List (high evidence) to No List (delete)

9 Mar 2023, Gel status: 3

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

Mafalda Gomes (Genomics England Curator)

gene: ABCC8 was added gene: ABCC8 was added to Newborns main panel. Sources: Expert Review Green Mode of inheritance for gene: ABCC8 was set to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal Phenotypes for gene: ABCC8 were set to Hyperinsulinemic hypoglycemia, familial, 1