Monogenic diabetes

Gene: INS

Green List (high evidence)

INS (insulin)
EnsemblGeneIds (GRCh38): ENSG00000254647
EnsemblGeneIds (GRCh37): ENSG00000254647
OMIM: 176730, Gene2Phenotype
INS is in 5 panels

4 reviews

Ivone Leong (Genomics England Curator)

Green List (high evidence)

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: Diabetes.
Created: 11 Jan 2019, 10:04 a.m.

Ellen Thomas (Genomics England)

Green List (high evidence)

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Sian Ellard (University of Exeter Medical School)

Green List (high evidence)

The Illumina comment is incorrect; most dominant mutations cause permanent neonatal diabetes rather than MODY.
Created: 23 Aug 2015, 3:55 p.m.

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Variants in this GENE are reported as part of current diagnostic practice

Ellen McDonagh (Genomics England Curator)

From Illumina information for this gene, the phenotype "Transient Neonatal Diabetes, Dominant/Recessive" was recorded with a recessive mode of inheritance, and "Maturity Onset Diabetes of the Young" with a dominant mode of inheritance.
Created: 2 Jul 2015, 8:39 a.m.

Details

Mode of Inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • NHS GMS
Phenotypes
  • MODY10
  • Maturity-onset diabetes of the young, type 10, 613370
  • Transient Neonatal Diabetes, Dominant/Recessive
  • Diabetes mellitus, permanent neonatal, 606176
  • Diabetes mellitus, insulin-dependent, 2, 125852
  • MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 10
  • Maturity Onset Diabetes of the Young
  • Permanent Neonatal diabetes mellitus
  • Hyperproinsulinemia, familial, with or without diabetes
  • Maturity Onset Diabetes of the Young (Dominant)
  • Diabetes mellitus, type 1, 125852
OMIM
176730
Clinvar variants
Variants in INS
Penetrance
None
Panels with this gene

History Filter Activity

30 Jan 2019, Gel status: 4

Panel promoted to version 1.0

Ivone Leong (Genomics England Curator)

Ivone Leong: Initial gene list and info col

11 Jan 2019, Gel status: 4

Added New Source

Ivone Leong (Genomics England Curator)

Source NHS GMS was added to INS.

18 Dec 2018, Gel status: 4

Set Phenotypes

Ellen McDonagh (Genomics England Curator)

Added phenotypes Transient Neonatal Diabetes, Dominant/Recessive; Hyperproinsulinemia, familial, with or without diabetes; Maturity Onset Diabetes of the Young (Dominant); Maturity Onset Diabetes of the Young for gene: INS

18 Dec 2018, Gel status: 4

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Ellen McDonagh (Genomics England Curator)

gene: INS was added gene: INS was added to Monogenic diabetes. Sources: Expert Review Green Mode of inheritance for gene: INS was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Phenotypes for gene: INS were set to MODY10; Maturity-onset diabetes of the young, type 10, 613370; Transient Neonatal Diabetes, Dominant/Recessive; Diabetes mellitus, insulin-dependent, 2, 125852; Permanent Neonatal diabetes mellitus; Diabetes mellitus, type 1, 125852; MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 10; Diabetes mellitus, permanent neonatal, 606176; Hyperproinsulinemia, familial, with or without diabetes; Maturity Onset Diabetes of the Young