Congenital hyperinsulinism
Gene: ABCC8EnsemblGeneIds (GRCh38): ENSG00000006071
EnsemblGeneIds (GRCh37): ENSG00000006071
OMIM: 600509, Gene2Phenotype
ABCC8 is in 11 panels
2 reviews
Ivone Leong (Genomics England Curator)
Initial gene list and info collated by Sian Ellard, University of Exeter Medical School, August 2018 on behalf of the GMS Endocrinology specialist test group. Gene Symbol submitted: ABCC8; Suggested intial gene rating: Green; Evidence for inclusion: none given; Evidence for exclusion: none given; Technical notes (e.g. non-coding/CNV mutations requiring coverage?): none given; Phenotypes: Hyperinsulinism.Created: 11 Jan 2019, 2:24 p.m.
Sian Ellard (University of Exeter Medical School)
Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Variants in this GENE are reported as part of current diagnostic practice
Details
- Mode of Inheritance
- BOTH monoallelic and biallelic, autosomal or pseudoautosomal
- Sources
-
- NHS GMS
- Expert Review Green
- Radboud University Medical Center, Nijmegen
- Illumina TruGenome Clinical Sequencing Services
- UKGTN
- Phenotypes
-
- Hyperinsulinism, Dominant/Recessive
- Hyperinsulinemic hypoglycemia, familial, 1, 256450
- OMIM
- 600509
- Clinvar variants
- Variants in ABCC8
- Penetrance
- Complete
- Panels with this gene
-
- Pulmonary arterial hypertension
- Multi-organ autoimmune diabetes
- Ketotic hypoglycaemia
- Intellectual disability
- Fetal anomalies
- Neonatal diabetes - small panel
- Familial diabetes
- Neonatal diabetes
- Diabetes with additional phenotypes suggestive of a monogenic aetiology
- Congenital hyperinsulinism
- Monogenic diabetes
History Filter Activity
Added New Source, Status Update
Ivone Leong (Genomics England Curator)Source NHS GMS was added to ABCC8. Rating Changed from Green List (high evidence) to Green List (high evidence)
Gene classified by Genomics England curator
Ellen Thomas (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Set Mode of Inheritance
Ellen Thomas (Genomics England Curator)Mode of inheritance for ABCC8 was changed to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Added New Source
GEL ()ABCC8 was added to Hyperinsulinismpanel. Sources: Radboud University Medical Center, Nijmegen
Added New Source
GEL ()ABCC8 was added to Hyperinsulinismpanel. Sources: Illumina TruGenome Clinical Sequencing Services
Added New Source
GEL ()ABCC8 was added to Hyperinsulinismpanel. Sources: UKGTN