DEMO Diabetes neonatal onset
Gene: INS
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.
Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
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.
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.
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