Familial diabetes
Gene: INSREnsemblGeneIds (GRCh38): ENSG00000171105
EnsemblGeneIds (GRCh37): ENSG00000171105
OMIM: 147670, Gene2Phenotype
INSR is in 13 panels
4 reviews
Ivone Leong (Genomics England Curator)
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.
Ellen Thomas (Genomics England)
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
610549
Publications
Variants in this GENE are reported as part of current diagnostic practice
Sian Ellard (University of Exeter Medical School)
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Variants in this GENE are reported as part of current diagnostic practice
Ellen McDonagh (Genomics England Curator)
Comment on list classification: Promoted from red to green due to two expert reviews.Created: 7 Jun 2016, 11:39 a.m.
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- NHS GMS
- Expert Review Green
- UKGTN
- Phenotypes
-
- Diabetes mellitus, insulin-resistant, with acanthosis nigricans
- OMIM 610549
- OMIM
- 147670
- Clinvar variants
- Variants in INSR
- Penetrance
- Complete
- Publications
-
- PMID: 8288049
- Panels with this gene
-
- Multi-organ autoimmune diabetes
- Monogenic diabetes
- Lipodystrophy - childhood onset
- IUGR and IGF abnormalities
- Insulin resistance (including lipodystrophy)
- Fetal anomalies
- Monogenic short stature
- Osteogenesis imperfecta
- Familial diabetes
- Neonatal diabetes
- Diabetes with additional phenotypes suggestive of a monogenic aetiology
- Congenital hyperinsulinism
- Intellectual disability
History Filter Activity
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Set publications
Ellen McDonagh (Genomics England Curator)Publications for INSR were set to PMID: 8288049
Set Phenotypes
Ellen McDonagh (Genomics England Curator)Phenotypes for INSR were set to Diabetes mellitus, insulin-resistant, with acanthosis nigricans; OMIM 610549
Set publications
Ellen McDonagh (Genomics England Curator)Publications for INSR were set to 8288049
Set Mode of Inheritance
Ellen McDonagh (Genomics England Curator)Mode of inheritance for INSR was changed to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Added New Source
GEL ()INSR was added to Familial diabetespanel. Sources: UKGTN