Likely inborn error of metabolism - targeted testing not possible
Gene: IER3IP1
On a further review of the phenotypes reported, this condition could initially present as a mimic of a mitochondrial presentation e.g. abnormal liver enzymes, diabetes, neurological dysfunction and therefore a green rating on this panel would seem appropriate.Created: 18 Sep 2019, 11:52 a.m. | Last Modified: 18 Sep 2019, 11:52 a.m.
Panel Version: 1.264
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Microcephaly, epilepsy, and diabetes syndrome, 614231
Comment on list classification: IER3IP1 has been demoted to Red on the Mitochondrial disorders panel on the recommendation of the GMS mitochondrial specialist test group, including by Carl Fratter (Oxford University Hospitals NHS Trust). 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. Thus in the opinion of Helen Britain (Genomics England Clinical Fellow) the phenotypes reported could initially present as a mimic of a mitochondrial presentation e.g. abnormal liver enzymes, diabetes, neurological dysfunction and therefore a green rating on metabolic panels would seem appropriate.Created: 1 Aug 2019, 1:47 p.m. | Last Modified: 25 Sep 2019, 9:46 a.m.
Panel Version: 1.278
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
Source: Expert Review Red was removed from gene: IER3IP1
Ellen McDonagh: Comment on mode of pathogenici
gene: IER3IP1 was added gene: IER3IP1 was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: IER3IP1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: IER3IP1 were set to 24138066; 22991235; 21835305 Phenotypes for gene: IER3IP1 were set to Microcephaly, epilepsy, and diabetes syndrome, 614231; MEDS