Diabetes with additional phenotypes suggestive of a monogenic aetiology
Gene: IER3IP1EnsemblGeneIds (GRCh38): ENSG00000134049
EnsemblGeneIds (GRCh37): ENSG00000134049
OMIM: 609382, Gene2Phenotype
IER3IP1 is in 16 panels
2 reviews
Sian Ellard (University of Exeter Medical School)
Ellen McDonagh (Genomics England Curator)
Comment on list classification: Promoted from red to green due to feedback from Sian Ellard (University of Exeter Medical School): see this gene on the Familial Diabetes panel.Created: 23 Aug 2016, 10:59 a.m.
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- UKGTN
- Radboud University Medical Center, Nijmegen
- Phenotypes
-
- Microcephaly, epilepsy, and diabetes syndrome, 614231
- Microcephaly, epilepsy and diabetes syndrome
- OMIM
- 609382
- Clinvar variants
- Variants in IER3IP1
- Penetrance
- Complete
- Publications
- Panels with this gene
-
- Mitochondrial disorders
- Early onset or syndromic epilepsy
- DDG2P
- Intellectual disability
- Familial diabetes
- Neonatal diabetes
- Likely inborn error of metabolism
- Paediatric disorders - additional genes
- Possible mitochondrial disorder - nuclear genes
- Multi-organ autoimmune diabetes
- Fetal anomalies
- Severe microcephaly
- Undiagnosed metabolic disorders
- Diabetes with additional phenotypes suggestive of a monogenic aetiology
- Monogenic diabetes
- Childhood onset dystonia, chorea or related movement disorder
History Filter Activity
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Set publications
Ellen McDonagh (Genomics England Curator)Publications for IER3IP1 were set to 21835305, 22991235, 24138066
Set Mode of Inheritance
Ellen McDonagh (Genomics England Curator)Mode of inheritance for IER3IP1 was changed to BIALLELIC, autosomal or pseudoautosomal
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
panel promoted to version 1
Ellen McDonagh (Genomics England Curator)25th July 2016: Panel revised acccording to expert review, further evidence sources and comparison with the Familial Diabetes version 1 panel. Promoted to version 1.
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Red List (Low Evidence).
Gene classified by Genomics England curator
Chris Boustred (Genomics England)This gene has been classified as Red List (Low Evidence).
Added New Source
Ellen McDonagh (Genomics England Curator)IER3IP1 was added to Diabetes with additional phenotypes suggestive of a monogenic aetiologypanel. Sources: UKGTN
Added New Source
Ellen McDonagh (Genomics England Curator)IER3IP1 was added to Diabetes with additional phenotypes suggestive of a monogenic aetiologypanel. Sources: Radboud University Medical Center, Nijmegen