Microcephaly
Gene: IER3IP1

IER3IP1 (immediate early response 3 interacting protein 1)
EnsemblGeneIds (GRCh38): ENSG00000134049
EnsemblGeneIds (GRCh37): ENSG00000134049
OMIM: 609382, Gene2Phenotype
IER3IP1 is in 8 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Four unrelated families reported. Microcephaly often of prenatal onset
Created: 28 Mar 2021, 6:39 a.m. | Last Modified: 28 Mar 2021, 6:39 a.m.

Panel Version: 0.553

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Microcephaly, epilepsy, and diabetes syndrome, MIM# 614231; Primary microcephaly-epilepsy-permanent neonatal diabetes syndrome, MONDO:0013647

Publications

Created: 28 Mar 2021, 6:39 a.m.
Last Modified: 28 Mar 2021, 6:39 a.m.
Panel version: 0.553

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Green
Victorian Clinical Genetics Services

Phenotypes

Microcephaly, epilepsy, and diabetes syndrome, MIM# 614231
Primary microcephaly-epilepsy-permanent neonatal diabetes syndrome, MONDO:0013647

OMIM

609382

Clinvar variants

Variants in IER3IP1

Penetrance

None

Publications

Panels with this gene