Diabetes - neonatal onset

Gene: IER3IP1

Green List (high evidence)

IER3IP1 (immediate early response 3 interacting protein 1)
EnsemblGeneIds (GRCh38): ENSG00000134049
EnsemblGeneIds (GRCh37): ENSG00000134049
OMIM: 609382, Gene2Phenotype
IER3IP1 is in 16 panels

3 reviews

Ivone Leong (Genomics England Curator)

Green List (high evidence)

Comment on phenotypes: This gene is also associated with neonatal diabetes, permanent neonatal diabetes
Created: 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.

Sian Ellard (University of Exeter Medical School)

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Variants in this GENE are reported as part of current diagnostic practice

Rebecca Foulger (Genomics England curator)

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.

History Filter Activity

3 Mar 2021, Gel status: 3

Set Phenotypes

Ivone Leong (Genomics England Curator)

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

11 Jan 2019, Gel status: 3

Added New Source, Status Update

Ivone Leong (Genomics England Curator)

Source NHS GMS was added to IER3IP1. Rating Changed from Green List (high evidence) to Green List (high evidence)

31 May 2017, Gel status: 4

panel promoted to version 1

Rebecca Foulger (Genomics England curator)

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.

24 Apr 2017, Gel status: 4

Gene classified by Genomics England curator

Rebecca Foulger (Genomics England curator)

This gene has been classified as Green List (High Evidence).

24 Apr 2017, Gel status: 4

Gene classified by Genomics England curator

Rebecca Foulger (Genomics England curator)

This gene has been classified as Green List (High Evidence).

24 Apr 2017, Gel status: 1

Gene classified by Genomics England curator

Rebecca Foulger (Genomics England curator)

This gene has been classified as Red List (Low Evidence).

24 Apr 2017, Gel status: 1

Set publications

Rebecca Foulger (Genomics England curator)

Publications for IER3IP1 were set to 22991235; 21835305; 24138066

24 Apr 2017, Gel status: 1

Set Phenotypes

Rebecca Foulger (Genomics England curator)

Phenotypes for IER3IP1 were set to Microcephaly, epilepsy and diabetes syndrome, 614231; neonatal diabetes; permanent neonatal diabetes

24 Apr 2017, Gel status: 1

Set Mode of Inheritance

Rebecca Foulger (Genomics England curator)

Mode of inheritance for IER3IP1 was changed to BIALLELIC, autosomal or pseudoautosomal

24 Apr 2017, Gel status: 1

Set Mode of Inheritance

Rebecca Foulger (Genomics England curator)

Mode of inheritance for IER3IP1 was changed to BIALLELIC, autosomal or pseudoautosomal

24 Apr 2017, Gel status: 1

Set Phenotypes

Rebecca Foulger (Genomics England curator)

Phenotypes for IER3IP1 were set to Microcephaly, epilepsy and diabetes syndrome, 614231

24 Apr 2017, Gel status: 1

Set publications

Rebecca Foulger (Genomics England curator)

Publications for IER3IP1 were set to 22991235

17 Aug 2015, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

IER3IP1 was added to Neonatal diabetes diagnosed <6 monthspanel. Sources: Eligibility statement prior genetic testing

17 Jul 2015, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

IER3IP1 was added to Neonatal diabetes diagnosed <6 monthspanel. Sources: UKGTN