Insulin resistance (including lipodystrophy)
Gene: INSR
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
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
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.
Promoted to version 1 12/08/2016
This gene has been classified as Green List (High Evidence).
Mode of inheritance for INSR was changed to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for INSR were set to Diabetes mellitus, insulin-resistant, with acanthosis nigricans, 610549; Leprechaunism, 246200; Rabson-Mendenhall syndrome, 262190;
Model of inheritance for gene INSR was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Model of inheritance for gene INSR was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Model of inheritance for gene INSR was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Model of inheritance for gene INSR was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
INSR was added to Insulin resistance (including lipodystrophy) panel. Sources: UKGTN
Model of inheritance for gene INSR was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
INSR was added to Insulin resistance (including lipodystrophy) panel. Sources: Illumina TruGenome Clinical Sequencing Services
INSR was added to Insulin resistance (including lipodystrophy) panel. Sources: Radboud University Medical Center, Nijmegen