Likely inborn error of metabolism

Gene: IER3IP1

Green List (high evidence)

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

Green List (high evidence)

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

Green List (high evidence)

Potential differential diagnosis for mitochondrial disorder, with seizures, abnormal liver function and diabetes

Created: 19 Jun 2019, 12:26 p.m.

Phenotypes
Microcephaly, epilepsy, and diabetes syndrome, 614231

Red List (low evidence)

Red - not considered a primary mitochondrial disorder; IER3IP1 is an endoplasmic reticulum protein

Created: 11 Jun 2019, 3:59 p.m.

Phenotypes
Microcephaly, epilepsy, and diabetes syndrome, 614231

Red List (low evidence)

Definitely a green gene; however, link to mitochondrial dysfunction seems indirect.

Created: 30 Aug 2018, 5:28 a.m.

Green List (high evidence)

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

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