Congenital hyperinsulinismGene: MAFA
A MAFA missense variant has been reported as a cause of familial Hyperinsulinaemic hypoglycaemia but since there was no history of early onset hypoglycaemia suggestive of congenital hyperinsulinism (two families with 10 subjects with hyperinsulinemic hypoglycaemia) there is insufficient evidence to turn this gene to Green on this panel.
Created: 15 Feb 2019, 11:03 a.m.
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: MAFA; 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: Familial insulinomatosis.
Created: 11 Jan 2019, 2:24 p.m.
gene: MAFA was added gene: MAFA was added to Congenital hyperinsulinism. Sources: NHS GMS Mode of inheritance for gene: MAFA was set to