Diabetes - neonatal onset

Gene: ABCC8

Green List (high evidence)

ABCC8 (ATP binding cassette subfamily C member 8)
EnsemblGeneIds (GRCh38): ENSG00000006071
EnsemblGeneIds (GRCh37): ENSG00000006071
OMIM: 600509, Gene2Phenotype
ABCC8 is in 11 panels

3 reviews

Ivone Leong (Genomics England Curator)

Green List (high evidence)

Comment on phenotypes: This gene is also associated with Isolated permanent neonatal diabetes; isolated transient neonatal diabetes, neonatal diabetes and developmental delay
Created: 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.

Sian Ellard (University of Exeter Medical School)

Green List (high evidence)

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.

Details

Mode of Inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Expert Review Green
  • Eligibility statement prior genetic testing
  • UKGTN
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • 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
OMIM
600509
Clinvar variants
Variants in ABCC8
Penetrance
Complete
Panels with this gene

History Filter Activity

2 Mar 2021, Gel status: 3

Set Phenotypes

Ivone Leong (Genomics England Curator)

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

15 Jul 2019, Gel status: 3

Set Phenotypes

Ivone Leong (Genomics England Curator)

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

11 Jan 2019, Gel status: 3

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)

31 May 2017, Gel status: 4

panel promoted to version 1

Rebecca Foulger (Genomics England curator)

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.

18 Apr 2017, Gel status: 4

Gene classified by Genomics England curator

Rebecca Foulger (Genomics England curator)

This gene has been classified as Green List (High Evidence).

18 Apr 2017, Gel status: 4

Gene classified by Genomics England curator

Rebecca Foulger (Genomics England curator)

This gene has been classified as Green List (High Evidence).

18 Apr 2017, Gel status: 3

Set Mode of Inheritance

Rebecca Foulger (Genomics England curator)

Mode of inheritance for ABCC8 was changed to BOTH monoallelic and biallelic, autosomal or pseudoautosomal

18 Apr 2017, Gel status: 3

Set Phenotypes

Rebecca Foulger (Genomics England curator)

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)

17 Aug 2015, Gel status: 3

Added New Source

Ellen McDonagh (Genomics England Curator)

ABCC8 was added to Neonatal diabetes diagnosed <6 monthspanel. Sources: Eligibility statement prior genetic testing

17 Aug 2015, Gel status: 3

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Model of inheritance for gene ABCC8 was changed to BOTH monoallelic and biallelic, autosomal or pseudoautosomal

17 Aug 2015, Gel status: 3

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Model of inheritance for gene ABCC8 was changed to BOTH monoallelic and biallelic, autosomal or pseudoautosomal

17 Aug 2015, Gel status: 3

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Model of inheritance for gene ABCC8 was changed to BOTH monoallelic and biallelic, autosomal or pseudoautosomal

17 Jul 2015, Gel status: 3

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Model of inheritance for gene ABCC8 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

17 Jul 2015, Gel status: 3

Added New Source

Ellen McDonagh (Genomics England Curator)

ABCC8 was added to Neonatal diabetes diagnosed <6 monthspanel. Sources: UKGTN

17 Jul 2015, Gel status: 2

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Model of inheritance for gene ABCC8 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

17 Jul 2015, Gel status: 2

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Model of inheritance for gene ABCC8 was changed to BIALLELIC, autosomal or pseudoautosomal

17 Jul 2015, Gel status: 2

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Model of inheritance for gene ABCC8 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

17 Jul 2015, Gel status: 2

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Model of inheritance for gene ABCC8 was changed to BIALLELIC, autosomal or pseudoautosomal

17 Jul 2015, Gel status: 2

Added New Source

Ellen McDonagh (Genomics England Curator)

ABCC8 was added to Neonatal diabetes diagnosed <6 monthspanel. Sources: Illumina TruGenome Clinical Sequencing Services

17 Jul 2015, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

ABCC8 was added to Neonatal diabetes diagnosed <6 monthspanel. Sources: Radboud University Medical Center, Nijmegen