Microcephaly Victorian Clinical Genetics Services
Gene: IER3IP1EnsemblGeneIds (GRCh38): ENSG00000134049
EnsemblGeneIds (GRCh37): ENSG00000134049
OMIM: 609382, Gene2Phenotype
IER3IP1 is in 16 panels
0 reviews
Details
- Sources
-
- Victorian Clinical Genetics Services
- Expert Review Green
- OMIM
- 609382
- Clinvar variants
- Variants in IER3IP1
- Penetrance
- None
- Panels with this gene
-
- Paediatric disorders - additional genes
- Childhood onset dystonia, chorea or related movement disorder
- Severe microcephaly
- Neonatal diabetes
- Undiagnosed metabolic disorders
- Early onset or syndromic epilepsy
- Mitochondrial disorders
- Diabetes with additional phenotypes suggestive of a monogenic aetiology
- Likely inborn error of metabolism
- Monogenic diabetes
- Intellectual disability
- Possible mitochondrial disorder - nuclear genes
- Familial diabetes
- Multi-organ autoimmune diabetes
- Fetal anomalies
- DDG2P
History Filter Activity
Added New Source
Sarah Leigh (Genomics England Curator)IER3IP1 was added to Microcephaly Victorian Clinical Genetics Services panel. Sources: Expert Review Green,Victorian Clinical Genetics Services
Created
Sarah Leigh (Genomics England Curator)IER3IP1 was created by Sarah Leigh