This Panel is marked as Retired
Epileptic encephalopathy
Gene: IER3IP1
IER3IP1 (immediate early response 3 interacting protein 1)
EnsemblGeneIds (GRCh38): ENSG00000134049
EnsemblGeneIds (GRCh37): ENSG00000134049
OMIM: 609382, Gene2Phenotype
IER3IP1 is in 16 panels
EnsemblGeneIds (GRCh38): ENSG00000134049
EnsemblGeneIds (GRCh37): ENSG00000134049
OMIM: 609382, Gene2Phenotype
IER3IP1 is in 16 panels
1 review
Louise Daugherty (Genomics England Curator)
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.Created: 18 Dec 2017, 4:44 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Microcephaly, epilepsy, and diabetes syndrome, 614231; MEDS
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Other
- Phenotypes
-
- Microcephaly, epilepsy, and diabetes syndrome, 614231
- MEDS
- OMIM
- 609382
- Clinvar variants
- Variants in IER3IP1
- Penetrance
- None
- Publications
- Panels with this gene
-
- Intellectual disability
- Severe microcephaly
- Fetal anomalies
- Neonatal diabetes
- Likely inborn error of metabolism
- Undiagnosed metabolic disorders
- Monogenic diabetes
- Diabetes with additional phenotypes suggestive of a monogenic aetiology
- Childhood onset dystonia, chorea or related movement disorder
- Mitochondrial disorders
- Early onset or syndromic epilepsy
- Familial diabetes
- Multi-organ autoimmune diabetes
- Paediatric disorders - additional genes
- DDG2P
- Possible mitochondrial disorder - nuclear genes
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