Congenital hyperinsulinism
Gene: HADH
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: HADH; 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: Protein sensitive hyperinsulinism.Created: 11 Jan 2019, 2:24 p.m.
Variants in this GENE are reported as part of current diagnostic practice
Phenotypes for gene: HADH were changed from Congenital hyperinsulinemic hypoglycemia (HH); Hyperinsulinism, Dominant/Recessive; 3-hydroxyacyl-CoA dehydrogenase deficiency, 231530 to Congenital hyperinsulinemic hypoglycemia (HH); Hyperinsulinism, Dominant/Recessive; 3-hydroxyacyl-CoA dehydrogenase deficiency, 231530; Protein sensitive hyperinsulinism
Source NHS GMS was added to HADH. Rating Changed from Green List (high evidence) to Green List (high evidence)
This gene has been classified as Green List (High Evidence).
HADH was added to Hyperinsulinismpanel. Sources: Radboud University Medical Center, Nijmegen
HADH was added to Hyperinsulinismpanel. Sources: Illumina TruGenome Clinical Sequencing Services
HADH was added to Hyperinsulinismpanel. Sources: UKGTN
HADH was added to Hyperinsulinismpanel. Sources: Emory Genetics Laboratory