DEMO Diabetes neonatal onset
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: Donohue syndrome (hyperglycaemia presenting feature is 2 patients, Exeter).Created: 11 Jan 2019, 4:27 p.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 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
Comment on list classification: Promoted from red to green due to two expert reviews.Created: 7 Jun 2016, 11:39 a.m.
gene: INSR was added gene: INSR was added to DEMO Diabetes - neonatal onset. Sources: Expert Review Green,NHS GMS,Other Mode of inheritance for gene: INSR was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Phenotypes for gene: INSR were set to Donohue syndrome, 246200; neonatal diabetes