SGPL1 and ichthyosis: We did not find any pathogenic variants in MCM4 (adrenal insufficiency, short stature, natural killer cell deficiency), which, to date, has only been reported in the Irish Traveller population, nor in SGPL1 (adrenal insufficiency, steroid-resistant nephrotic syndrome, ichthyosis, other features) in this UK resident population, although not all children had full analysis with panels or exomes [52,53].