Paediatric disorders - additional genes
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
Rebecca Foulger (Genomics England curator)
Added to 'Paediatric disorders - additional genes' panel on recommendation of Genomics England clinical team, to allow demotion of gene rating on the 'Mitochondrial disorders' panel.
Sources: OtherCreated: 19 Jul 2019, 12:47 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
-
- Severe microcephaly
- Neonatal diabetes
- Likely inborn error of metabolism
- Undiagnosed metabolic disorders
- Intellectual disability
- Monogenic diabetes
- Diabetes with additional phenotypes suggestive of a monogenic aetiology
- Fetal anomalies
- Childhood onset dystonia, chorea or related movement disorder
- Mitochondrial disorders
- Familial diabetes
- Multi-organ autoimmune diabetes
- Paediatric disorders - additional genes
- DDG2P
- Possible mitochondrial disorder - nuclear genes
- Early onset or syndromic epilepsy
History Filter Activity
19 Jul 2019, Gel status: 3
Entity classified by Genomics England curator
Rebecca Foulger (Genomics England curator)Gene: ier3ip1 has been classified as Green List (High Evidence).
19 Jul 2019, Gel status: 1
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Rebecca Foulger (Genomics England curator)gene: IER3IP1 was added gene: IER3IP1 was added to Paediatric disorders - additional genes. Sources: Other Mode of inheritance for gene: IER3IP1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: IER3IP1 were set to 21835305; 22991235; 24138066 Phenotypes for gene: IER3IP1 were set to Microcephaly, epilepsy, and diabetes syndrome, 614231; MEDS