Biallelic DNAJC3 variants in a neuroendocrine developmental disorder with insulin dysregulation

This report confirms DNAJC3 as a cause of syndromic congenital hyperinsulinaemic hypoglycaemia. Currently, PanelApp only includes this gene on diabetes mellitus panels. We propose DNAJC3 should be promoted from a red to a green gene on a wider number of panels to improve the diagnosis of this rare condition.
Source: Clinical Dysmorphology - Category: Genetics & Stem Cells Tags: Original Articles Source Type: research