Ketotic hypoglycaemia
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
2 reviews
Alexander Broomfield (Central Manchester Foundation Trust)
Ellen McDonagh (Genomics England Curator)
Comment when marking as ready: Remains red due to expert review.Created: 8 Jun 2016, 1:27 p.m.
Details
- Mode of Inheritance
- Unknown
- Sources
-
- Expert Review Red
- Radboud University Medical Center, Nijmegen
- Phenotypes
-
- Hyperinsulinemic hypoglycemia, familial, 1, 256450
- Hypoglycemia of infancy, leucine-sensitive, 240800
- Diabetes mellitus, transient neonatal 2, 610374
- Diabetes mellitus, noninsulin-dependent, 125853
- Diabetes mellitus, noninsulin-dependent, 125854
- OMIM
- 600509
- Clinvar variants
- Variants in ABCC8
- Penetrance
- Complete
- 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
8 Jun 2016, Gel status: 1
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Red List (Low Evidence).
19 Oct 2015, Gel status: 1
Added New Source
Ellen McDonagh (Genomics England Curator)ABCC8 was added to Ketotic hypoglycaemiapanel. Sources: Radboud University Medical Center, Nijmegen