Severe microcephaly

Gene: IER3IP1

Green List (high evidence)

IER3IP1 (immediate early response 3 interacting protein 1)
EnsemblGeneIds (GRCh38): ENSG00000134049
EnsemblGeneIds (GRCh37): ENSG00000134049
OMIM: 609382, Gene2Phenotype
IER3IP1 is in 15 panels

1 review

Rebecca Foulger (Genomics England curator)

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).
Created: 19 Jan 2017, 10:54 a.m.
>3 cases (and 3 variants) of IER3IP1 mutations causing microcephaly, epilepsy, and diabetes syndrome (MEDS; 614231).
Created: 19 Jan 2017, 9:39 a.m.

History Filter Activity

2 Mar 2017, Gel status: 4

panel promoted to version 1

Rebecca Foulger (Genomics England curator)

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.

19 Jan 2017, Gel status: 4

Set Phenotypes

Rebecca Foulger (Genomics England curator)

Phenotypes for gene IER3IP1 were set to Microcephaly, epilepsy, and diabetes syndrome, 614231; Microcephaly (-3 to -9 SD)

19 Jan 2017, Gel status: 4

Gene classified by Genomics England curator

Rebecca Foulger (Genomics England curator)

This gene has been classified as Green List (High Evidence).

19 Jan 2017, Gel status: 0

Added New Source

Rebecca Foulger (Genomics England curator)

IER3IP1 was added to Primary Microcephaly - Microcephalic Dwarfism Spectrumpanel. Sources: Other

19 Jan 2017, Gel status: 0

Created

Rebecca Foulger (Genomics England curator)

IER3IP1 was created by rfoulger