Congenital hyperinsulinism

Gene: INSR

Green List (high evidence)

INSR (insulin receptor)
EnsemblGeneIds (GRCh38): ENSG00000171105
EnsemblGeneIds (GRCh37): ENSG00000171105
OMIM: 147670, Gene2Phenotype
INSR is in 12 panels

4 reviews

Jayne Houghton (Royal Devon and Exeter Foundation Trust)

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

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

Ivone Leong (Genomics England Curator)

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.

Sian Ellard (University of Exeter Medical School)

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

Ellen Thomas (Genomics England Curator)

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.

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • NHS GMS
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Leprechaunism, 246200
  • hyperinsulinemic hypoglycaemia
  • Autosomal dominant postprandial hypoglycaemia
OMIM
147670
Clinvar variants
Variants in INSR
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

15 Jul 2019, Gel status: 3

Set Phenotypes

Ivone Leong (Genomics England Curator)

Phenotypes for gene: INSR were changed from Leprechaunism, 246200; hyperinsulinemic hypoglycaemia to Leprechaunism, 246200; hyperinsulinemic hypoglycaemia; Autosomal dominant postprandial hypoglycaemia

15 Feb 2019, Gel status: 3

Entity classified by Genomics England curator

Ivone Leong (Genomics England Curator)

Gene: insr has been classified as Green List (High Evidence).

28 Jan 2019, Gel status: 1

Set Phenotypes

Ivone Leong (Genomics England Curator)

Phenotypes for gene: INSR were changed from Leprechaunism, 246200 to Leprechaunism, 246200; hyperinsulinemic hypoglycaemia

28 Jan 2019, Gel status: 1

Set publications

Ivone Leong (Genomics England Curator)

Publications for gene: INSR were set to

28 Jan 2019, Gel status: 1

Set mode of inheritance

Ivone Leong (Genomics England Curator)

Mode of inheritance for gene: INSR was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

11 Jan 2019, Gel status: 1

Added New Source

Ivone Leong (Genomics England Curator)

Source NHS GMS was added to INSR.

12 Apr 2016, Gel status: 1

Gene classified by Genomics England curator

Ellen Thomas (Genomics England Curator)

This gene has been classified as Red List (Low Evidence).

28 Apr 2015, Gel status: 1

Added New Source

GEL ()

INSR was added to Hyperinsulinismpanel. Sources: Radboud University Medical Center, Nijmegen