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DDG2P

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 16 panels

1 review

Achchuthan Shanmugasundram (Genomics England Curator)

Green List (high evidence)

The DDG2P confidence category, allelic requirement and molecular mechanism for IER3IP1-related microcephaly with simplified gyral pattern, epilepsy, and neonatal diabetes are strong, biallelic_autosomal and undetermined (PMIDs: 21835305, 22991235, 24138066, 28711742, 36416459). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P03485.
Created: 13 Feb 2026, 9:25 p.m. | Last Modified: 13 Feb 2026, 9:25 p.m.
Panel Version: 6.17
The DDG2P confidence category for the disease IER3IP1-related microcephaly with simplified gyral pattern, epilepsy, and neonatal diabetes is strong. The allelic requirement and mutation consequence are biallelic_autosomal and decreased gene product level (PMID: 36416459;24138066;22991235;28711742;21835305).
Created: 26 Sep 2024, 8:30 p.m. | Last Modified: 26 Sep 2024, 8:30 p.m.
Panel Version: 4.10

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
IER3IP1-related microcephaly with simplified gyral pattern, epilepsy, and neonatal diabetes; OMIM:614231.0; MONDO:0031481

Publications

Mode of pathogenicity
Other

Created: 26 Sep 2024, 8:30 p.m.
Last Modified: 26 Sep 2024, 8:30 p.m.
Panel version: 6.17

History Filter Activity

16 Feb 2026, Gel status: 3

Set mode of pathogenicity

Achchuthan Shanmugasundram (Genomics England Curator)

Mode of pathogenicity for gene: IER3IP1 was changed from Other to None

26 Sep 2024, Gel status: 3

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

Achchuthan Shanmugasundram (Genomics England Curator)

gene: IER3IP1 was added gene: IER3IP1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: IER3IP1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: IER3IP1 were set to 36416459; 22991235; 24138066; 21835305; 28711742 Phenotypes for gene: IER3IP1 were set to IER3IP1-related microcephaly with simplified gyral pattern, epilepsy, and neonatal diabetes Mode of pathogenicity for gene: IER3IP1 was set to Other