Epileptic encephalopathyGene: IER3IP1
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.
18 Dec 2017, 4:44 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Microcephaly, epilepsy, and diabetes syndrome, 614231; MEDS
This gene has been classified as Green List (High Evidence).
IER3IP1 was added to Epileptic encephalopathy panel. Sources: Other
IER3IP1 was created by Louise Daugherty