DEMO Diabetes neonatal onset
Gene: ABCC8
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.
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.
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.
Gene: abcc8 has been classified as Amber List (Moderate Evidence).
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