Familial diabetes
Gene: INSR
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: Insulin resistance.Created: 11 Jan 2019, 10:04 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
610549
Publications
Variants in this GENE are reported as part of current diagnostic practice
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Variants in this GENE are reported as part of current diagnostic practice
Comment on list classification: Promoted from red to green due to two expert reviews.Created: 7 Jun 2016, 11:39 a.m.
This gene has been classified as Green List (High Evidence).
Publications for INSR were set to PMID: 8288049
Phenotypes for INSR were set to Diabetes mellitus, insulin-resistant, with acanthosis nigricans; OMIM 610549
Publications for INSR were set to 8288049
Mode of inheritance for INSR was changed to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
This gene has been classified as Green List (High Evidence).
INSR was added to Familial diabetespanel. Sources: UKGTN