Neonatal diabetes
Gene: IER3IP1EnsemblGeneIds (GRCh38): ENSG00000134049
EnsemblGeneIds (GRCh37): ENSG00000134049
OMIM: 609382, Gene2Phenotype
IER3IP1 is in 16 panels
3 reviews
Ivone Leong (Genomics England Curator)
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.
Sian Ellard (University of Exeter Medical School)
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.
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- NHS GMS
- Expert Review Green
- Eligibility statement prior genetic testing
- UKGTN
- Phenotypes
-
- Microcephaly, epilepsy and diabetes syndrome, OMIM:614231
- OMIM
- 609382
- Clinvar variants
- Variants in IER3IP1
- Penetrance
- Complete
- Publications
- Panels with this gene
-
- Mitochondrial disorders
- Early onset or syndromic epilepsy
- DDG2P
- Intellectual disability
- Familial diabetes
- Neonatal diabetes
- Likely inborn error of metabolism
- Paediatric disorders - additional genes
- Possible mitochondrial disorder - nuclear genes
- Multi-organ autoimmune diabetes
- Fetal anomalies
- Severe microcephaly
- Undiagnosed metabolic disorders
- Diabetes with additional phenotypes suggestive of a monogenic aetiology
- Monogenic diabetes
- Childhood onset dystonia, chorea or related movement disorder
History Filter Activity
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
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)
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.
Gene classified by Genomics England curator
Rebecca Foulger (Genomics England curator)This gene has been classified as Green List (High Evidence).
Gene classified by Genomics England curator
Rebecca Foulger (Genomics England curator)This gene has been classified as Green List (High Evidence).
Gene classified by Genomics England curator
Rebecca Foulger (Genomics England curator)This gene has been classified as Red List (Low Evidence).
Set publications
Rebecca Foulger (Genomics England curator)Publications for IER3IP1 were set to 22991235; 21835305; 24138066
Set Phenotypes
Rebecca Foulger (Genomics England curator)Phenotypes for IER3IP1 were set to Microcephaly, epilepsy and diabetes syndrome, 614231; neonatal diabetes; permanent neonatal diabetes
Set Mode of Inheritance
Rebecca Foulger (Genomics England curator)Mode of inheritance for IER3IP1 was changed to BIALLELIC, autosomal or pseudoautosomal
Set Mode of Inheritance
Rebecca Foulger (Genomics England curator)Mode of inheritance for IER3IP1 was changed to BIALLELIC, autosomal or pseudoautosomal
Set Phenotypes
Rebecca Foulger (Genomics England curator)Phenotypes for IER3IP1 were set to Microcephaly, epilepsy and diabetes syndrome, 614231
Set publications
Rebecca Foulger (Genomics England curator)Publications for IER3IP1 were set to 22991235
Added New Source
Ellen McDonagh (Genomics England Curator)IER3IP1 was added to Neonatal diabetes diagnosed <6 monthspanel. Sources: Eligibility statement prior genetic testing
Added New Source
Ellen McDonagh (Genomics England Curator)IER3IP1 was added to Neonatal diabetes diagnosed <6 monthspanel. Sources: UKGTN