Diabetes - neonatal onset

Gene: INS

Green List (high evidence)

INS (insulin)
EnsemblGeneIds (GRCh38): ENSG00000254647
EnsemblGeneIds (GRCh37): ENSG00000254647
OMIM: 176730, Gene2Phenotype
INS is in 6 panels

3 reviews

Ivone Leong (Genomics England Curator)

Green List (high evidence)

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 mellitus
Created: 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.

Sian Ellard (University of Exeter Medical School)

Green List (high evidence)

Rebecca Foulger (Genomics England curator)

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.

Details

Mode of Inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Expert Review Green
  • Eligibility statement prior genetic testing
  • UKGTN
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • 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
OMIM
176730
Clinvar variants
Variants in INS
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

3 Mar 2021, Gel status: 3

Set Phenotypes

Ivone Leong (Genomics England Curator)

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

11 Jan 2019, Gel status: 3

Added New Source, Status Update

Ivone Leong (Genomics England Curator)

Source NHS GMS was added to INS. Rating Changed from Green List (high evidence) to Green List (high evidence)

31 May 2017, Gel status: 4

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.

20 Apr 2017, Gel status: 4

Gene classified by Genomics England curator

Rebecca Foulger (Genomics England curator)

This gene has been classified as Green List (High Evidence).

20 Apr 2017, Gel status: 4

Gene classified by Genomics England curator

Rebecca Foulger (Genomics England curator)

This gene has been classified as Green List (High Evidence).

20 Apr 2017, Gel status: 3

Set publications

Rebecca Foulger (Genomics England curator)

Publications for INS were set to 26101329; 17855560

20 Apr 2017, Gel status: 3

Set Mode of Inheritance

Rebecca Foulger (Genomics England curator)

Mode of inheritance for INS was changed to BOTH monoallelic and biallelic, autosomal or pseudoautosomal

17 Aug 2015, Gel status: 3

Added New Source

Ellen McDonagh (Genomics England Curator)

INS was added to Neonatal diabetes diagnosed <6 monthspanel. Sources: Eligibility statement prior genetic testing

17 Aug 2015, Gel status: 3

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Model of inheritance for gene INS was changed to BOTH monoallelic and biallelic, autosomal or pseudoautosomal

17 Aug 2015, Gel status: 3

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Model of inheritance for gene INS was changed to BOTH monoallelic and biallelic, autosomal or pseudoautosomal

17 Aug 2015, Gel status: 3

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Model of inheritance for gene INS was changed to BOTH monoallelic and biallelic, autosomal or pseudoautosomal

17 Jul 2015, Gel status: 3

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Model of inheritance for gene INS was changed to BOTH monoallelic and biallelic, autosomal or pseudoautosomal

17 Jul 2015, Gel status: 3

Added New Source

Ellen McDonagh (Genomics England Curator)

INS was added to Neonatal diabetes diagnosed <6 monthspanel. Sources: UKGTN

17 Jul 2015, Gel status: 2

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Model of inheritance for gene INS was changed to BIALLELIC, autosomal or pseudoautosomal

17 Jul 2015, Gel status: 2

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Model of inheritance for gene INS was changed to BIALLELIC, autosomal or pseudoautosomal

17 Jul 2015, Gel status: 2

Added New Source

Ellen McDonagh (Genomics England Curator)

INS was added to Neonatal diabetes diagnosed <6 monthspanel. Sources: Illumina TruGenome Clinical Sequencing Services

17 Jul 2015, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

INS was added to Neonatal diabetes diagnosed <6 monthspanel. Sources: Radboud University Medical Center, Nijmegen