Congenital hyperinsulinism

Gene: PMM2

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Hyperinsulinemic Hypoglycaemia; polycystic kidney disease

Publications

• 28373276

Variants in this GENE are reported as part of current diagnostic practice

Green List (high evidence)

Comment on list classification: Promoted from red to green as recommended by Jayne Houghton (South West GLH). PMM2 is a green gene on Congenital disorders of glycosylation (Version 1.21), Inborn errors of metabolism (Version 1.46) and Undiagnosed metabolic disorders (Version 1.90) panels.

Created: 28 Jan 2019, 10:52 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: PMM2; 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: Autosomal recessive Hyperinsulinemic Hypoglycaemia and polycystic kidney disease.

Created: 11 Jan 2019, 2:24 p.m.