Familial diabetes
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: Diabetes.Created: 11 Jan 2019, 10:04 a.m.
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
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.
This gene has been classified as Green List (High Evidence).
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
This gene has been classified as Green List (High Evidence).
ABCC8 was added to Familial diabetespanel. Sources: Radboud University Medical Center, Nijmegen
ABCC8 was added to Familial diabetespanel. Sources: UKGTN
ABCC8 was added to Familial diabetespanel. Sources: Illumina TruGenome Clinical Sequencing Services