Familial diabetes
Gene: ABCC8EnsemblGeneIds (GRCh38): ENSG00000006071
EnsemblGeneIds (GRCh37): ENSG00000006071
OMIM: 600509, Gene2Phenotype
ABCC8 is in 11 panels
3 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: Diabetes.Created: 11 Jan 2019, 10:04 a.m.
Sian Ellard (University of Exeter Medical School)
Loss of function mutations only cause diabetes if inherited in trans with an activating mutation (Ellard et al 2007 Diabetes).Created: 23 Aug 2015, 3:58 p.m.
The Illumina comment is incorrect; there are some recessive mutations that cause transient neonatal diabetes and some dominant mutations that cause permanent neonatal diabetesCreated: 23 Aug 2015, 3:51 p.m.
Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Mode of pathogenicity
Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Variants in this GENE are reported as part of current diagnostic practice
Ellen McDonagh (Genomics England Curator)
From Illumina information for this gene, Pemanent neonatal diabetes mellitus is associated with a recessive mode of inheritance, whereas transient neonatal diabetes has a dominant mode of inheritance.Created: 2 Jul 2015, 8:31 a.m.
Details
- Mode of Inheritance
- BOTH monoallelic and biallelic, autosomal or pseudoautosomal
- Sources
-
- NHS GMS
- Expert Review Green
- Radboud University Medical Center, Nijmegen
- UKGTN
- Illumina TruGenome Clinical Sequencing Services
- Phenotypes
-
- Permanent Neonatal Diabetes Mellitus
- Hyperinsulinemic hypoglycemia, familial, 1, 256450Hypoglycemia of infancy, leucine-sensitive, 240800Diabetes mellitus, transient neonatal 2, 610374Diabetes mellitus, noninsulin-dependent, 125853Diabetes mellitus, permanent neonatal, 6
- Permanent Neonatal Diabetes Mellitus (recessive)
- Transient Neonatal Diabetes, Dominant
- OMIM
- 600509
- Clinvar variants
- Variants in ABCC8
- Penetrance
- Complete
- Mode of Pathogenicity
- Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
- Panels with this gene
-
- Pulmonary arterial hypertension
- Multi-organ autoimmune diabetes
- Monogenic diabetes
- Ketotic hypoglycaemia
- Fetal anomalies
- Neonatal diabetes - small panel
- Familial diabetes
- Neonatal diabetes
- Diabetes with additional phenotypes suggestive of a monogenic aetiology
- Congenital hyperinsulinism
- Intellectual disability
History Filter Activity
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Set mode of pathogenicity
Ellen McDonagh (Genomics England Curator)Mode of pathogenicity for ABCC8 was changed to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Added New Source
GEL ()ABCC8 was added to Familial diabetespanel. Sources: Radboud University Medical Center, Nijmegen
Added New Source
GEL ()ABCC8 was added to Familial diabetespanel. Sources: UKGTN
Added New Source
GEL ()ABCC8 was added to Familial diabetespanel. Sources: Illumina TruGenome Clinical Sequencing Services