Insulin resistance (including lipodystrophy)

Gene: INSR

Green List (high evidence)

INSR (insulin receptor)
EnsemblGeneIds (GRCh38): ENSG00000171105
EnsemblGeneIds (GRCh37): ENSG00000171105
OMIM: 147670, Gene2Phenotype
INSR is in 13 panels

3 reviews

David Savage (IMS MRL, Uni. Cambridge)

Green List (high evidence)

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

Robert Semple (University of Cambridge)

Green List (high evidence)

Mode of inheritance
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal

Phenotypes
Donohue Syndrome; Rabson Mendenhall Syndrome; Type A Insulin Resistance; Severe Insulin Resistance

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

Sarah Leigh (Genomics England Curator)

Comment when marking as ready: Associated with phenotype in OMIM, not in G2P. Numerous variants reported
Created: 11 Aug 2016, 9:47 a.m.
Comment on phenotypes: Also associated with Hyperinsulinemic hypoglycemia, familial, 5 609968
Created: 11 Aug 2016, 9:46 a.m.

Details

Mode of Inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • UKGTN
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Diabetes mellitus, insulin-resistant, with acanthosis nigricans, 610549
  • Leprechaunism, 246200
  • Rabson-Mendenhall syndrome, 262190
OMIM
147670
Clinvar variants
Variants in INSR
Penetrance
Complete
Panels with this gene

History Filter Activity

12 Aug 2016, Gel status: 4

panel promoted to version 1

Sarah Leigh (Genomics England Curator)

Promoted to version 1 12/08/2016

11 Aug 2016, Gel status: 4

Gene classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

11 Aug 2016, Gel status: 3

Set Mode of Inheritance

Sarah Leigh (Genomics England Curator)

Mode of inheritance for INSR was changed to BOTH monoallelic and biallelic, autosomal or pseudoautosomal

11 Aug 2016, Gel status: 3

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for INSR were set to Diabetes mellitus, insulin-resistant, with acanthosis nigricans, 610549; Leprechaunism, 246200; Rabson-Mendenhall syndrome, 262190;

17 Aug 2015, Gel status: 3

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Model of inheritance for gene INSR was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

17 Aug 2015, Gel status: 3

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Model of inheritance for gene INSR was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

17 Aug 2015, Gel status: 3

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Model of inheritance for gene INSR was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

24 Jul 2015, Gel status: 3

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Model of inheritance for gene INSR was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

24 Jul 2015, Gel status: 3

Added New Source

Ellen McDonagh (Genomics England Curator)

INSR was added to Insulin resistance (including lipodystrophy) panel. Sources: UKGTN

24 Jul 2015, Gel status: 2

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Model of inheritance for gene INSR was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

24 Jul 2015, Gel status: 2

Added New Source

Ellen McDonagh (Genomics England Curator)

INSR was added to Insulin resistance (including lipodystrophy) panel. Sources: Illumina TruGenome Clinical Sequencing Services

24 Jul 2015, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

INSR was added to Insulin resistance (including lipodystrophy) panel. Sources: Radboud University Medical Center, Nijmegen