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Genetic epilepsy syndromes

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 16 panels

3 reviews

Rebecca Foulger (Genomics England curator)

I don't know

Review and rating collated by Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust, 2019_02_06) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group, for Clinical Indication R59 'Early onset or syndromic epilepsy'. Review contributors: John Taylor and Helen Lord. Suggested gene rating: Green.
Created: 6 Aug 2019, 8:38 p.m. | Last Modified: 6 Aug 2019, 8:38 p.m.
Panel Version: 1.189

Tracy Lester (Genetics laboratory, Oxford UK)

Green List (high evidence)

AR microcephaly, epilepsy and diabetes syndrome (MEDS). De Wit et al, 2006 & Poulton et al, 2011 - male infant of consang Moroccan parents and Poulton also reported another consang family from rgentina with a similar disorder - both had diff hom missense variants V21G & L78P. Abdel-Salam et al, 2012 - 4 patients from 2 unrelated consang Egyptian families with MEDS - seizures developed in fIrst few months of life - all were hom for L78P. Shaleve et al, 2014 - boy born of unrelated parents with MEDS - intractable seizures developed around 2 months - compound het for v21G and a fs variant. Ellard et al, 2013- also detected the L78P variant (hom) in an individual with neontal diabetes, may not have developed seizures yet. Valenzuela et al, 2017 - MEDS patient - hom missense variant. Epilepsy not noted, hoewever died at 7 weeks so may not have developed yet (in prev repored patients 2/7 onset at birth 5/7 onset at 2 months).
Created: 6 Aug 2019, 8:31 p.m. | Last Modified: 6 Aug 2019, 8:31 p.m.
Panel Version: 1.188

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Publications

Louise Daugherty (Genomics England Curator)

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, 4:44 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Microcephaly, epilepsy, and diabetes syndrome, 614231; MEDS

Publications

History Filter Activity

6 Aug 2019, Gel status: 3

Added New Source

Rebecca Foulger (Genomics England curator)

Source Wessex and West Midlands GLH was added to IER3IP1.

6 Aug 2019, Gel status: 3

Added New Source

Rebecca Foulger (Genomics England curator)

Source NHS GMS was added to IER3IP1.

11 Dec 2018, Gel status: 4

Panel promoted to version 1.0

Sarah Leigh (Genomics England Curator)

Louise Daugherty: Not a DDG2P confirmed gene, bu

26 Jun 2018, Gel status: 4

Added New Source

Sarah Leigh (Genomics England Curator)

NIHRBR-RD Consortium SPEED_v3.0_20170404 was added to IER3IP1. Panel: Genetic Epilepsy Syndromes

25 Jun 2018, Gel status: 4

Added New Source

Sarah Leigh (Genomics England Curator)

Victorian Clinical Genetics Services was added to IER3IP1. Panel: Genetic Epilepsy Syndromes

4 Apr 2018, Gel status: 4

Added New Source

Sarah Leigh (Genomics England Curator)

IER3IP1 was added to Genetic Epilepsy Syndromes panel. Sources: Expert Review Green,Other

4 Apr 2018, Gel status: 4

Created

Sarah Leigh (Genomics England Curator)

IER3IP1 was created by Sarah Leigh