Congenital hyperinsulinism

Gene: INSR

Green List (high evidence)

We have identified 5 individuals with heterozygous dominant negative INSR variants from 4 different families here in Exeter.

Created: 15 Feb 2019, 11:03 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
hyperinsulinemic hypoglycaemia

Publications

• 15161766

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 based on evidence provided by Jayne Houghton (Royal Devon and Exeter Foundation Trust).

Created: 15 Feb 2019, 11:04 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: INSR; 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 dominant postprandial hypoglycaemia.

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

Red List (low evidence)

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

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

Comment when marking as ready: Insufficient families to go on the panel for this phenotype now, but keep under review.

Created: 12 Apr 2016, 8:21 a.m.