Neonatal diabetes
Gene: IER3IP1
Comment on phenotypes: This gene is also associated with neonatal diabetes, permanent neonatal diabetesCreated: 3 Mar 2021, 1:27 p.m. | Last Modified: 3 Mar 2021, 1:27 p.m.
Panel Version: 2.14
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.
Phenotypes for gene: IER3IP1 were changed from Microcephaly, epilepsy and diabetes syndrome, 614231; neonatal diabetes; permanent neonatal diabetes to Microcephaly, epilepsy and diabetes syndrome, OMIM:614231
Source NHS GMS was added to IER3IP1. Rating Changed from Green List (high evidence) to Green List (high evidence)
Promoted panel to Version 1: 31st May 2017. This panel is largely aligned with the Exeter Molecular Genetics Laboratory neonatal diabetes screen. Note that 8 genes feature on the Exeter 8-gene panel for patients with 'neonatal diabetes and autoimmune disease' (FOXP3, IL2RA, ITCH, LRBA, SIRT1, STAT1, STAT3 and STAT5). ITCH, SIRT1, STAT1 and STAT5A/B do not feature on this panel following correspondance with Elisa De-Franco (University of Exeter Medical School) that, at the time of curation, none of the patients with mutations in ITCH, SIRT1, STAT1 and STAT5b had diabetes diagnosed in the neonatal period, and therefore there is currently insufficient evidence to include these genes in this neonatal diabetes panel.
This gene has been classified as Green List (High Evidence).
This gene has been classified as Green List (High Evidence).
This gene has been classified as Red List (Low Evidence).
Publications for IER3IP1 were set to 22991235; 21835305; 24138066
Phenotypes for IER3IP1 were set to Microcephaly, epilepsy and diabetes syndrome, 614231; neonatal diabetes; permanent neonatal diabetes
Mode of inheritance for IER3IP1 was changed to BIALLELIC, autosomal or pseudoautosomal
Mode of inheritance for IER3IP1 was changed to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for IER3IP1 were set to Microcephaly, epilepsy and diabetes syndrome, 614231
Publications for IER3IP1 were set to 22991235
IER3IP1 was added to Neonatal diabetes diagnosed <6 monthspanel. Sources: Eligibility statement prior genetic testing
IER3IP1 was added to Neonatal diabetes diagnosed <6 monthspanel. Sources: UKGTN