Severe microcephalyGene: IER3IP1
Comment on list classification: Updated rating from Red to Green after discussion with clinical team:Not a DDG2P confirmed gene, but >3 cases (and 3 variants) of IER3IP1 mutations linked to MEDS (OMIM:614231).
19 Jan 2017, 10:54 a.m.
>3 cases (and 3 variants) of IER3IP1 mutations causing microcephaly, epilepsy, and diabetes syndrome (MEDS; 614231).
19 Jan 2017, 9:39 a.m.
2nd March 2017: Panel review was assessed and panel was revised according to expert review and additional curation. This panel began with an expert gene list from Professor Andrew Jackson (University of Edinburgh) for primary microcephaly (MCPH) and microcephalic primordial dwarfism (MPD). Other disorders are included where microcephaly is a primary feature. Disorders where microcephaly is not the primary presenting feature are not included (e.g. congenital disorders of glycosylation, Proud syndrome, Norrie disease). The panel does not include disorders with a cortical malformation (e.g. lissencephaly) since the Malformations of cortical development' panel would be applied to these patients.
Phenotypes for gene IER3IP1 were set to Microcephaly, epilepsy, and diabetes syndrome, 614231; Microcephaly (-3 to -9 SD)
This gene has been classified as Green List (High Evidence).
IER3IP1 was created by rfoulger
IER3IP1 was added to Primary Microcephaly - Microcephalic Dwarfism Spectrumpanel. Sources: Other