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  2. DEMO Diabetes neonatal onset
  3. INS
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DEMO Diabetes neonatal onset

Gene: INS

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

5 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: neonatal diabetes.
Created: 11 Jan 2019, 4:27 p.m.
Created: 11 Jan 2019, 4:27 p.m.

Panel version: Imported from Diabetes - neonatal onset panel version 1.13

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)

Created: 5 Nov 2017, 2:39 a.m.

Panel version: Imported from Diabetes - neonatal onset panel version 0

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.
Created: 20 Apr 2017, 8:26 a.m.

Panel version: Imported from Diabetes - neonatal onset panel version 0.15

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
  • UKGTN
  • NHS GMS
  • Expert Review Green
  • Eligibility statement prior genetic testing
  • Radboud University Medical Center, Nijmegen
  • Illumina TruGenome Clinical Sequencing Services
  • NHS GMS
Phenotypes
  • Permanent Neonatal diabetes mellitus
  • Diabetes mellitus, permanent neonatal, 606176
  • Maturity-onset diabetes of the young, type 10, 613370
  • Hyperproinsulinemia, familial, with or without diabetes
  • Transient Neonatal Diabetes, Dominant/Recessive
  • Diabetes mellitus, insulin-dependent, 2, 125852
  • Diabetes mellitus, type 1, 125852
OMIM
176730
Clinvar variants
Variants in INS
Penetrance
None
Publications
Panels with this gene

History Filter Activity

2 Dec 2019, Gel status: 3

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

Ellen McDonagh (Genomics England Curator)

gene: INS was added gene: INS was added to DEMO Diabetes - neonatal onset. Sources: Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen,Eligibility statement prior genetic testing,Expert Review Green,NHS GMS,UKGTN Mode of inheritance for gene: INS was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: INS were set to 26101329; 17855560 Phenotypes for gene: INS were set to Permanent Neonatal diabetes mellitus; Diabetes mellitus, permanent neonatal, 606176; Maturity-onset diabetes of the young, type 10, 613370; Hyperproinsulinemia, familial, with or without diabetes; Transient Neonatal Diabetes, Dominant/Recessive; Diabetes mellitus, insulin-dependent, 2, 125852; Diabetes mellitus, type 1, 125852