Early onset or syndromic epilepsy

Gene: IER3IP1

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

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

• 21835305
• 24138066

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

• 21835305
• 22991235
• 24138066