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  3. INS
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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)

Comment on phenotypes: Previous 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
Created: 16 Mar 2021, 12:01 p.m. | Last Modified: 16 Mar 2021, 12:01 p.m.
Panel Version: 2.19
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.
Created: 11 Jan 2019, 10:04 a.m.

Panel version: 0.8

Ellen Thomas (Genomics England)

Green List (high evidence)

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Created: 5 Nov 2017, 2:41 a.m.

Panel version: Imported from Familial diabetes panel version 0

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

Created: 23 Aug 2015, 3:55 p.m.

Panel version: Imported from Familial diabetes panel version 0

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.
Created: 2 Jul 2015, 8:39 a.m.

Panel version: Imported from Familial diabetes panel version 0

Details

Mode of Inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Expert Review Green
Phenotypes
  • Maturity-onset diabetes of the young, type 10, OMIM:613370
  • Diabetes mellitus, permanent neonatal 4, OMIM:618858
  • Diabetes mellitus, insulin-dependent, 2, OMIM:125852
  • Hyperproinsulinemia, OMIM:616214
OMIM
176730
Clinvar variants
Variants in INS
Penetrance
None
Panels with this gene

History Filter Activity

16 Mar 2021, Gel status: 3

Set Phenotypes

Ivone Leong (Genomics England Curator)

Phenotypes for gene: INS were changed from 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 to Maturity-onset diabetes of the young, type 10, OMIM:613370; Diabetes mellitus, permanent neonatal 4, OMIM:618858; Diabetes mellitus, insulin-dependent, 2, OMIM:125852; Hyperproinsulinemia, OMIM:616214

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