Neonatal diabetes
Gene: INS
Comment on phenotypes: Previous phenotypes:
Hyperproinsulinemia, familial, with or without diabetes; Maturity-onset diabetes of the young, type 10, 613370; Diabetes mellitus, permanent neonatal, 606176; Diabetes mellitus, type 1, 125852; Diabetes mellitus, insulin-dependent, 2, 125852;Transient Neonatal Diabetes, Dominant/Recessive;Permanent Neonatal diabetes mellitusCreated: 3 Mar 2021, 1:47 p.m. | Last Modified: 3 Mar 2021, 1:47 p.m.
Panel Version: 2.16
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: INS; 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: neonatal diabetes.Created: 11 Jan 2019, 4:27 p.m.
Comment on list classification: Green expert review plus >3 unrelated cases of INS variants causing permanent neonatal diabetes mellitus (PNDM, MIM:606176). Part of Exeter neonatal diabetes screen.Created: 20 Apr 2017, 8:29 a.m.
Comment on mode of inheritance: Both monoallelic (PMID:17855560) and biallelic (PMID:26101329) variants reported in OMIM/literature.Created: 20 Apr 2017, 8:26 a.m.
Phenotypes for gene: INS were changed from Hyperproinsulinemia, familial, with or without diabetes; Maturity-onset diabetes of the young, type 10, 613370; Diabetes mellitus, permanent neonatal, 606176; Diabetes mellitus, type 1, 125852; Diabetes mellitus, insulin-dependent, 2, 125852; Transient Neonatal Diabetes, Dominant/Recessive; Permanent Neonatal diabetes mellitus to Hyperproinsulinemia, OMIM:616214; Maturity-onset diabetes of the young, type 10, 613370; Diabetes mellitus, insulin-dependent, 2, 125852; Transient Neonatal Diabetes Mellitus (disease), MONDO:0020525 (Dominant/Recessive); Permanent Neonatal diabetes mellitus, MONDO:010016
Source NHS GMS was added to INS. Rating Changed from Green List (high evidence) to Green List (high evidence)
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.
This gene has been classified as Green List (High Evidence).
This gene has been classified as Green List (High Evidence).
Publications for INS were set to 26101329; 17855560
Mode of inheritance for INS was changed to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
INS was added to Neonatal diabetes diagnosed <6 monthspanel. Sources: Eligibility statement prior genetic testing
Model of inheritance for gene INS was changed to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Model of inheritance for gene INS was changed to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Model of inheritance for gene INS was changed to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Model of inheritance for gene INS was changed to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
INS was added to Neonatal diabetes diagnosed <6 monthspanel. Sources: UKGTN
Model of inheritance for gene INS was changed to BIALLELIC, autosomal or pseudoautosomal
Model of inheritance for gene INS was changed to BIALLELIC, autosomal or pseudoautosomal
INS was added to Neonatal diabetes diagnosed <6 monthspanel. Sources: Illumina TruGenome Clinical Sequencing Services
INS was added to Neonatal diabetes diagnosed <6 monthspanel. Sources: Radboud University Medical Center, Nijmegen