Neonatal diabetes
Gene: ABCC8
Comment on phenotypes: This gene is also associated with Isolated permanent neonatal diabetes; isolated transient neonatal diabetes, neonatal diabetes and developmental delayCreated: 2 Mar 2021, 4:58 p.m. | Last Modified: 2 Mar 2021, 4:58 p.m.
Panel Version: 2.4
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.
Phenotypes for gene: ABCC8 were changed from Hyperinsulinemic hypoglycemia, familial, 1, 256450; Hypoglycemia of infancy, leucine-sensitive, 240800; Diabetes mellitus, transient neonatal 2, 610374; Diabetes mellitus, noninsulin-dependent, 125853; Diabetes mellitus, permanent neonatal, 606176; Permanent Neonatal Diabetes Mellitus; Transient Neonatal Diabetes, Dominant; Permanent neonatal diabetes mellitus; transient neonatal diabetes (Dominant); Isolated permanent neonatal diabetes; isolated transient neonatal diabetes, neonatal diabetes and developmental delay to Hyperinsulinemic hypoglycemia, familial, 1, OMIM:256450; Hypoglycemia of infancy, leucine-sensitive, OMIM:240800; Diabetes mellitus, transient neonatal 2, OMIM:610374; Diabetes mellitus, noninsulin-dependent, OMIM:125853; Diabetes mellitus, permanent neonatal 3, with or without neurologic features, OMIM:618857
Phenotypes for gene: ABCC8 were changed from Hyperinsulinemic hypoglycemia, familial, 1, 256450; Hypoglycemia of infancy, leucine-sensitive, 240800; Diabetes mellitus, transient neonatal 2, 610374; Diabetes mellitus, noninsulin-dependent, 125853; Diabetes mellitus, permanent neonatal, 606176; Permanent Neonatal Diabetes Mellitus; Transient Neonatal Diabetes, Dominant; Permanent neonatal diabetes mellitus; transient neonatal diabetes (Dominant) to Hyperinsulinemic hypoglycemia, familial, 1, 256450; Hypoglycemia of infancy, leucine-sensitive, 240800; Diabetes mellitus, transient neonatal 2, 610374; Diabetes mellitus, noninsulin-dependent, 125853; Diabetes mellitus, permanent neonatal, 606176; Permanent Neonatal Diabetes Mellitus; Transient Neonatal Diabetes, Dominant; Permanent neonatal diabetes mellitus; transient neonatal diabetes (Dominant); Isolated permanent neonatal diabetes; isolated transient neonatal diabetes, neonatal diabetes and developmental delay
Source NHS GMS was added to ABCC8. Rating Changed from Green List (high evidence) to Green List (high evidence)
Promoted panel to Version 1: 31st May 2017. This panel is largely aligned with the Exeter Molecular Genetics Laboratory neonatal diabetes screen. Note that 8 genes feature on the Exeter 8-gene panel for patients with 'neonatal diabetes and autoimmune disease' (FOXP3, IL2RA, ITCH, LRBA, SIRT1, STAT1, STAT3 and STAT5). ITCH, SIRT1, STAT1 and STAT5A/B do not feature on this panel following correspondance with Elisa De-Franco (University of Exeter Medical School) that, at the time of curation, none of the patients with mutations in ITCH, SIRT1, STAT1 and STAT5b had diabetes diagnosed in the neonatal period, and therefore there is currently insufficient evidence to include these genes in this neonatal diabetes panel.
This gene has been classified as Green List (High Evidence).
This gene has been classified as Green List (High Evidence).
Mode of inheritance for ABCC8 was changed to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for ABCC8 were set to Hyperinsulinemic hypoglycemia, familial, 1, 256450; Hypoglycemia of infancy, leucine-sensitive, 240800; Diabetes mellitus, transient neonatal 2, 610374; Diabetes mellitus, noninsulin-dependent, 125853; Diabetes mellitus, permanent neonatal, 606176; Permanent Neonatal Diabetes Mellitus; Transient Neonatal Diabetes, Dominant; Permanent neonatal diabetes mellitus; transient neonatal diabetes (Dominant)
ABCC8 was added to Neonatal diabetes diagnosed <6 monthspanel. Sources: Eligibility statement prior genetic testing
Model of inheritance for gene ABCC8 was changed to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Model of inheritance for gene ABCC8 was changed to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Model of inheritance for gene ABCC8 was changed to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Model of inheritance for gene ABCC8 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
ABCC8 was added to Neonatal diabetes diagnosed <6 monthspanel. Sources: UKGTN
Model of inheritance for gene ABCC8 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Model of inheritance for gene ABCC8 was changed to BIALLELIC, autosomal or pseudoautosomal
Model of inheritance for gene ABCC8 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Model of inheritance for gene ABCC8 was changed to BIALLELIC, autosomal or pseudoautosomal
ABCC8 was added to Neonatal diabetes diagnosed <6 monthspanel. Sources: Illumina TruGenome Clinical Sequencing Services
ABCC8 was added to Neonatal diabetes diagnosed <6 monthspanel. Sources: Radboud University Medical Center, Nijmegen