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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 8 panels

1 review

Lauren Rogers (Victorian Clinical Genetics Services)

Green List (high evidence)

Microcephaly, epilepsy, and diabetes syndrome-1 (MEDS1) is an autosomal recessive neurodevelopmental disorder characterised by microcephaly, simplified gyral pattern, severe epilepsy, and infantile diabetes.

Onset in utero. Death often in early childhood.
Created: 13 Mar 2025, 3:17 a.m. | Last Modified: 13 Mar 2025, 3:17 a.m.
Panel Version: 1.1577

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Microcephaly, epilepsy, and diabetes syndrome, MIM# 614231

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Microcephaly, epilepsy, and diabetes syndrome, 614231 (3)
OMIM
609382
Clinvar variants
Variants in IER3IP1
Penetrance
None
Panels with this gene

History Filter Activity

1 Jun 2022, Gel status: 3

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: IER3IP1 was added gene: IER3IP1 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: IER3IP1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: IER3IP1 were set to Microcephaly, epilepsy, and diabetes syndrome, 614231 (3)