Mitochondrial disorders
Gene: IER3IP1Comment 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
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
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
Definitely a green gene; however, link to mitochondrial dysfunction seems indirect.Created: 30 Aug 2018, 5:28 a.m.
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
Gene: ier3ip1 has been classified as Red List (Low Evidence).
This gene has been classified as Green List (High Evidence).
IER3IP1 was added to Mitochondrial disorders panel. Sources: Other
IER3IP1 was created by Louise Daugherty