Congenital hyperinsulinism
Gene: INSR
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
Variants in this GENE are reported as part of current diagnostic practice
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.
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.
Phenotypes for gene: INSR were changed from Leprechaunism, 246200; hyperinsulinemic hypoglycaemia to Leprechaunism, 246200; hyperinsulinemic hypoglycaemia; Autosomal dominant postprandial hypoglycaemia
Gene: insr has been classified as Green List (High Evidence).
Phenotypes for gene: INSR were changed from Leprechaunism, 246200 to Leprechaunism, 246200; hyperinsulinemic hypoglycaemia
Publications for gene: INSR were set to
Mode of inheritance for gene: INSR was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Source NHS GMS was added to INSR.
This gene has been classified as Red List (Low Evidence).
INSR was added to Hyperinsulinismpanel. Sources: Radboud University Medical Center, Nijmegen