Neonatal diabetes
Gene: INSREnsemblGeneIds (GRCh38): ENSG00000171105
EnsemblGeneIds (GRCh37): ENSG00000171105
OMIM: 147670, Gene2Phenotype
INSR is in 13 panels
2 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: Donohue syndrome (hyperglycaemia presenting feature is 2 patients, Exeter).Created: 11 Jan 2019, 4:27 p.m.
Rebecca Foulger (Genomics England curator)
Comment on mode of inheritance: Mode of inheritance marked as both monoallelic and biallelic, to cover homozygous cases reported by Elisa De Franco, and to align with heterozygous phenotypes on other diabetes panels.Created: 30 May 2017, 3:39 p.m.
Comment when marking as ready: Marked as ready: May 30th 2017.Created: 30 May 2017, 9:47 a.m.
Comment on list classification: Updated rating from Red to Green after internal clinical discussion: INSR is green on other diabetes PanelApp panels, plus cases of neonatal diabetes reported by Elisa de Franco. Rated as green to align with Exeter neonatal diabetes panel.Created: 30 May 2017, 9:47 a.m.
Added INSR to the panel as it appears on the Exeter neonatal diabetes screen. Correspondance with Elisa De-Franco (University of Exeter Medical School, May 2017) reports 2 patients referred as having neonatal diabetes with homozygous INSR mutations. Although the clinical presentation of patients with Donohue syndrome (Leprechaunism, MIM:246200) is very typical, these 2 cases suggest that it is possible that in some cases the first symptom noticed is hyperglycemia and a diagnosis of neonatal diabetes suspected.Created: 25 May 2017, 9:55 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
neonatal diabetes
Details
- Mode of Inheritance
- BOTH monoallelic and biallelic, autosomal or pseudoautosomal
- Sources
-
- NHS GMS
- Expert Review Green
- Other
- Phenotypes
-
- neonatal diabetes
- Donohue syndrome, OMIM:246200, Hyperinsulinemic hypoglycemia, familial, 5, OMIM:609968
- Rabson-Mendenhall syndrome, OMIM: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
Set Phenotypes
Ivone Leong (Genomics England Curator)Phenotypes for gene: INSR were changed from neonatal diabetes; Donohue syndrome, 246200 to neonatal diabetes; Donohue syndrome, OMIM:246200, Hyperinsulinemic hypoglycemia, familial, 5, OMIM:609968; Rabson-Mendenhall syndrome, OMIM:262190
Set Phenotypes
Ivone Leong (Genomics England Curator)Phenotypes for gene: INSR were changed from neonatal diabetes to neonatal diabetes; Donohue syndrome, 246200
Added New Source, Status Update
Ivone Leong (Genomics England Curator)Source NHS GMS was added to INSR. Rating Changed from Green List (high evidence) to Green List (high evidence)
panel promoted to version 1
Rebecca Foulger (Genomics England curator)Promoted panel to Version 1: 31st May 2017. This panel is largely aligned with the Exeter Molecular Genetics Laboratory neonatal diabetes screen. Note that 8 genes feature on the Exeter 8-gene panel for patients with 'neonatal diabetes and autoimmune disease' (FOXP3, IL2RA, ITCH, LRBA, SIRT1, STAT1, STAT3 and STAT5). ITCH, SIRT1, STAT1 and STAT5A/B do not feature on this panel following correspondance with Elisa De-Franco (University of Exeter Medical School) that, at the time of curation, none of the patients with mutations in ITCH, SIRT1, STAT1 and STAT5b had diabetes diagnosed in the neonatal period, and therefore there is currently insufficient evidence to include these genes in this neonatal diabetes panel.
Set Mode of Inheritance
Rebecca Foulger (Genomics England curator)Mode of inheritance for INSR was changed to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Gene classified by Genomics England curator
Rebecca Foulger (Genomics England curator)This gene has been classified as Green List (High Evidence).
Gene classified by Genomics England curator
Rebecca Foulger (Genomics England curator)This gene has been classified as Green List (High Evidence).
Created
Rebecca Foulger (Genomics England curator)INSR was created by rfoulger
Added New Source
Rebecca Foulger (Genomics England curator)INSR was added to Neonatal diabetes diagnosed <6 monthspanel. Sources: Other