Neonatal diabetes - small panel
Gene: ABCC8
ABCC8 (ATP binding cassette subfamily C member 8)
EnsemblGeneIds (GRCh38): ENSG00000006071
EnsemblGeneIds (GRCh37): ENSG00000006071
OMIM: 600509, Gene2Phenotype
ABCC8 is in 11 panels
EnsemblGeneIds (GRCh38): ENSG00000006071
EnsemblGeneIds (GRCh37): ENSG00000006071
OMIM: 600509, Gene2Phenotype
ABCC8 is in 11 panels
1 review
Achchuthan Shanmugasundram (Genomics England Curator)
Comment on phenotypes: This gene has been associated with relevant phenotypes in OMIM (MIMs #618857 & #610374) and the OMIM records were last accessed on 29 December 2025.Created: 29 Dec 2025, 10:55 a.m. | Last Modified: 29 Dec 2025, 10:55 a.m.
Panel Version: 1.4
ABCC8 has been added to the panel for R143.1 Neonatal diabetes with a green rating as agreed with the NHS Genomic Medicine Service.Created: 30 Jun 2023, 2:57 p.m. | Last Modified: 26 Sep 2023, 1:07 p.m.
Panel Version: 1.2
Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Details
- Mode of Inheritance
- BOTH monoallelic and biallelic, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- NHS GMS
- Phenotypes
-
- Diabetes mellitus, permanent neonatal 3, OMIM:618857
- Diabetes mellitus, transient neonatal 2, OMIM:610374
- diabetes mellitus, permanent neonatal 3, MONDO:0030088
- diabetes mellitus, transient neonatal, 2, MONDO:0012480
- OMIM
- 600509
- Clinvar variants
- Variants in ABCC8
- Penetrance
- None
- Panels with this gene
-
- Neonatal diabetes
- Monogenic diabetes
- Pulmonary arterial hypertension
- Multi-organ autoimmune diabetes
- Ketotic hypoglycaemia
- Neonatal diabetes - small panel
- Familial diabetes
- Fetal anomalies
- Diabetes with additional phenotypes suggestive of a monogenic aetiology
- Congenital hyperinsulinism
- Intellectual disability
History Filter Activity
29 Dec 2025, Gel status: 3
Set Phenotypes
Achchuthan Shanmugasundram (Genomics England Curator)Phenotypes for gene: ABCC8 were changed from to Diabetes mellitus, permanent neonatal 3, OMIM:618857; Diabetes mellitus, transient neonatal 2, OMIM:610374; diabetes mellitus, permanent neonatal 3, MONDO:0030088; diabetes mellitus, transient neonatal, 2, MONDO:0012480
30 Jun 2023, Gel status: 3
Created, Added New Source, Set mode of inheritance
Achchuthan Shanmugasundram (Genomics England Curator)gene: ABCC8 was added gene: ABCC8 was added to Neonatal diabetes - small panel. Sources: NHS GMS,Expert Review Green Mode of inheritance for gene: ABCC8 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal