DEMO Diabetes neonatal onset
Gene: IER3IP1
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: IER3IP1; 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, microcephaly and epilepsy.Created: 11 Jan 2019, 4:27 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Variants in this GENE are reported as part of current diagnostic practice
Comment when marking as ready: Marked as Ready: April 24th 2017.Created: 24 Apr 2017, 12:57 p.m.
Comment on list classification: Updated rating from Red to Green: Expert green review plus >3 unrelated cases of IER3IP1 mutations causing MEDS (MIM:614231), which includes neonatal diabetes. Plus part of Exeter neonatal diabetes screen.Created: 24 Apr 2017, 12:56 p.m.
Comment on mode of inheritance: Biallelic mode of inheritance confirmed by OMIM.Created: 24 Apr 2017, 12:43 p.m.
Comment on list classification: Promoted from red to green due to expert review and additional evidence.Created: 7 Jun 2016, 11:36 a.m.
gene: IER3IP1 was added gene: IER3IP1 was added to DEMO Diabetes - neonatal onset. Sources: Expert Review Green,NHS GMS,Eligibility statement prior genetic testing,UKGTN Mode of inheritance for gene: IER3IP1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: IER3IP1 were set to 24138066; 21835305; 22991235 Phenotypes for gene: IER3IP1 were set to Microcephaly, epilepsy and diabetes syndrome, 614231; neonatal diabetes; permanent neonatal diabetes