Congenital hyperinsulinism
Gene: GLUD1
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: GLUD1; 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: Hyperinsulinism Hyperammonaemia syndrome.Created: 11 Jan 2019, 2:24 p.m.
Comment on mode of pathogenicity: Activating GLUD1 mutations cause this phenotypeCreated: 11 Apr 2016, 2:01 p.m.
Activating GLUD1 mutations cause this phenotypeCreated: 18 Oct 2015, 7:32 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
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
Source NHS GMS was added to GLUD1. Rating Changed from Green List (high evidence) to Green List (high evidence)
This gene has been classified as Green List (High Evidence).
Mode of pathogenicity for GLUD1 was changed to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Mode of inheritance for GLUD1 was changed to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
GLUD1 was added to Hyperinsulinismpanel. Sources: UKGTN
GLUD1 was added to Hyperinsulinismpanel. Sources: Illumina TruGenome Clinical Sequencing Services
GLUD1 was added to Hyperinsulinismpanel. Sources: Radboud University Medical Center, Nijmegen