Mitochondrial disorders
Gene: IER3IP1
IER3IP1 (immediate early response 3 interacting protein 1)
EnsemblGeneIds (GRCh38): ENSG00000134049
EnsemblGeneIds (GRCh37): ENSG00000134049
OMIM: 609382, Gene2Phenotype
IER3IP1 is in 16 panels
EnsemblGeneIds (GRCh38): ENSG00000134049
EnsemblGeneIds (GRCh37): ENSG00000134049
OMIM: 609382, Gene2Phenotype
IER3IP1 is in 16 panels
5 reviews
Sarah Leigh (Genomics England Curator)
Comment on list classification: IER3IP1 is being demoted to Red on this panel on the recommendation of the GMS mitochondrial specialist test group, including by Carl Fratter (Oxford University Hospitals NHS Trust). As it is associated with Microcephaly, epilepsy, and diabetes syndrome 614231, which is not technically a mitochondrial disorder, as the phenotype is quite different to other mitochondrial conditions.Created: 1 Aug 2019, 1:47 p.m. | Last Modified: 1 Aug 2019, 1:47 p.m.
Panel Version: 1.417
Anna de Burca (Oxford University Hospitals NHS Foundation Trust)
Potential differential diagnosis for mitochondrial disorder, with seizures, abnormal liver function and diabetesCreated: 19 Jun 2019, 12:26 p.m.
Phenotypes
Microcephaly, epilepsy, and diabetes syndrome, 614231
Carl Fratter (Oxford University Hospitals NHS Trust)
Red - not considered a primary mitochondrial disorder; IER3IP1 is an endoplasmic reticulum proteinCreated: 11 Jun 2019, 3:59 p.m.
Phenotypes
Microcephaly, epilepsy, and diabetes syndrome, 614231
Zornitza Stark (Australian Genomics)
Definitely a green gene; however, link to mitochondrial dysfunction seems indirect.Created: 30 Aug 2018, 5:28 a.m.
Louise Daugherty (Genomics England Curator)
Not a DDG2P confirmed gene, but more than cases (and 3 variants) of IER3IP1 mutations linked to MEDS (OMIM:614231).Microcephaly, epilepsy are predominant for the observed phenotype.Created: 18 Dec 2017, 4:43 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Microcephaly, epilepsy, and diabetes syndrome, 614231; MEDS
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Red
- Other
- Phenotypes
-
- Microcephaly, epilepsy, and diabetes syndrome, 614231
- MEDS
- OMIM
- 609382
- Clinvar variants
- Variants in IER3IP1
- Penetrance
- None
- Publications
- Panels with this gene
-
- Paediatric disorders - additional genes
- Childhood onset dystonia, chorea or related movement disorder
- Severe microcephaly
- Neonatal diabetes
- Undiagnosed metabolic disorders
- Early onset or syndromic epilepsy
- Mitochondrial disorders
- Diabetes with additional phenotypes suggestive of a monogenic aetiology
- Likely inborn error of metabolism
- Monogenic diabetes
- Intellectual disability
- Possible mitochondrial disorder - nuclear genes
- Familial diabetes
- Multi-organ autoimmune diabetes
- Fetal anomalies
- DDG2P
History Filter Activity
1 Aug 2019, Gel status: 1
Entity classified by Genomics England curator
Sarah Leigh (Genomics England Curator)Gene: ier3ip1 has been classified as Red List (Low Evidence).
18 Dec 2017, Gel status: 3
Gene classified by Genomics England curator
Louise Daugherty (Genomics England Curator)This gene has been classified as Green List (High Evidence).
18 Dec 2017, Gel status: 1
Added New Source
Louise Daugherty (Genomics England Curator)IER3IP1 was added to Mitochondrial disorders panel. Sources: Other
18 Dec 2017, Gel status: 1
Created
Louise Daugherty (Genomics England Curator)IER3IP1 was created by Louise Daugherty