DEMO Diabetes neonatal onset
Gene: ABCC8EnsemblGeneIds (GRCh38): ENSG00000006071
EnsemblGeneIds (GRCh37): ENSG00000006071
OMIM: 600509, Gene2Phenotype
ABCC8 is in 11 panels
4 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: Isolated permanent neonatal diabetes; isolated transient neonatal diabetes, neonatal diabetes and developmental delay.Created: 11 Jan 2019, 4:27 p.m.
Sian Ellard (University of Exeter Medical School)
Rebecca Foulger (Genomics England curator)
Comment on list classification: Rated green by expert reviewer. Linked to multiple diabetes disorders and plenty (>3) unrelated cases to support causation.Created: 18 Apr 2017, 8:39 a.m.
Comment on mode of inheritance: Mode of inheritance confirmed by OMIM: MIM:125853, MIM:606176 and MIM:240800 are monoallelic (AD). MIM:256450 is monoallelic AND biallallelic.Created: 18 Apr 2017, 7:54 a.m.
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
-
- Expert Review Amber
- UKGTN
- NHS GMS
- Eligibility statement prior genetic testing
- Radboud University Medical Center, Nijmegen
- Illumina TruGenome Clinical Sequencing Services
- NHS GMS
- Phenotypes
-
- Transient Neonatal Diabetes, Dominant
- Isolated permanent neonatal diabetes
- Diabetes mellitus, noninsulin-dependent, 125853
- Diabetes mellitus, transient neonatal 2, 610374
- Permanent Neonatal Diabetes Mellitus
- Hyperinsulinemic hypoglycemia, familial, 1, 256450
- transient neonatal diabetes (Dominant)
- Diabetes mellitus, permanent neonatal, 606176
- isolated transient neonatal diabetes, neonatal diabetes and developmental delay
- Permanent neonatal diabetes mellitus
- Hypoglycemia of infancy, leucine-sensitive, 240800
- OMIM
- 600509
- Clinvar variants
- Variants in ABCC8
- Penetrance
- None
- Panels with this gene
-
- Pulmonary arterial hypertension
- Intellectual disability
- Familial diabetes
- Multi-organ autoimmune diabetes
- Neonatal diabetes
- Monogenic diabetes
- Ketotic hypoglycaemia
- Fetal anomalies
- Neonatal diabetes - small panel
- Diabetes with additional phenotypes suggestive of a monogenic aetiology
- Congenital hyperinsulinism
History Filter Activity
Entity classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)Gene: abcc8 has been classified as Amber List (Moderate Evidence).
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Ellen McDonagh (Genomics England Curator)gene: ABCC8 was added gene: ABCC8 was added to DEMO Diabetes - neonatal onset. Sources: Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen,Eligibility statement prior genetic testing,Expert Review Green,NHS GMS,UKGTN Mode of inheritance for gene: ABCC8 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Phenotypes for gene: ABCC8 were set to Transient Neonatal Diabetes, Dominant; Isolated permanent neonatal diabetes; Diabetes mellitus, noninsulin-dependent, 125853; Diabetes mellitus, transient neonatal 2, 610374; Permanent Neonatal Diabetes Mellitus; Hyperinsulinemic hypoglycemia, familial, 1, 256450; transient neonatal diabetes (Dominant); Diabetes mellitus, permanent neonatal, 606176; isolated transient neonatal diabetes, neonatal diabetes and developmental delay; Permanent neonatal diabetes mellitus; Hypoglycemia of infancy, leucine-sensitive, 240800