Insulin resistance (including lipodystrophy)
Gene: INSREnsemblGeneIds (GRCh38): ENSG00000171105
EnsemblGeneIds (GRCh37): ENSG00000171105
OMIM: 147670, Gene2Phenotype
INSR is in 13 panels
3 reviews
David Savage (IMS MRL, Uni. Cambridge)
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Robert Semple (University of Cambridge)
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 reportedCreated: 11 Aug 2016, 9:47 a.m.
Comment on phenotypes: Also associated with Hyperinsulinemic hypoglycemia, familial, 5 609968Created: 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
-
- Multi-organ autoimmune diabetes
- Lipodystrophy - childhood onset
- IUGR and IGF abnormalities
- Insulin resistance (including lipodystrophy)
- Intellectual disability
- Fetal anomalies
- Monogenic short stature
- Osteogenesis imperfecta
- Familial diabetes
- Neonatal diabetes
- Diabetes with additional phenotypes suggestive of a monogenic aetiology
- Congenital hyperinsulinism
- Monogenic diabetes
History Filter Activity
panel promoted to version 1
Sarah Leigh (Genomics England Curator)Promoted to version 1 12/08/2016
Gene classified by Genomics England curator
Sarah Leigh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Set Mode of Inheritance
Sarah Leigh (Genomics England Curator)Mode of inheritance for INSR was changed to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
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;
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
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
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
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
Added New Source
Ellen McDonagh (Genomics England Curator)INSR was added to Insulin resistance (including lipodystrophy) panel. Sources: UKGTN
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
Added New Source
Ellen McDonagh (Genomics England Curator)INSR was added to Insulin resistance (including lipodystrophy) panel. Sources: Illumina TruGenome Clinical Sequencing Services
Added New Source
Ellen McDonagh (Genomics England Curator)INSR was added to Insulin resistance (including lipodystrophy) panel. Sources: Radboud University Medical Center, Nijmegen