Genes in panel
STRs in panel
Prev Next
Regions in panel
Prev Next

Epileptic encephalopathy

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

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.
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

18 Dec 2017, Gel status: 3

Gene classified by Genomics England curator

Louise Daugherty (Genomics England Curator)

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

18 Dec 2017, Gel status: 1

Added New Source

Louise Daugherty (Genomics England Curator)

IER3IP1 was added to Epileptic encephalopathy panel. Sources: Other

18 Dec 2017, Gel status: 1

Created

Louise Daugherty (Genomics England Curator)

IER3IP1 was created by Louise Daugherty