Monogenic diabetes
Gene: IER3IP1EnsemblGeneIds (GRCh38): ENSG00000134049
EnsemblGeneIds (GRCh37): ENSG00000134049
OMIM: 609382, Gene2Phenotype
IER3IP1 is in 16 panels
3 reviews
Ivone Leong (Genomics England Curator)
Gene changed to grey status after consultation with Professor Sian Ellard (South West GLH) that this gene is not appropriate for the panel.Created: 25 Jan 2019, 11:49 a.m.
Ellen McDonagh (Genomics England Curator)
Comment on list classification: Promoted from red to green due to expert review and additional evidence.Created: 7 Jun 2016, 11:36 a.m.
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Removed
- Phenotypes
-
- Microcephaly, epilepsy, and diabetes syndrome, 614231
- Microcephaly, epilepsy, and diabetes syndrome
- Microcephaly, epilepsy and diabetes syndrome
- Tags
- OMIM
- 609382
- Clinvar variants
- Variants in IER3IP1
- Penetrance
- None
- Publications
- Panels with this gene
-
- Mitochondrial disorders
- DDG2P
- Familial diabetes
- Neonatal diabetes
- Likely inborn error of metabolism
- Paediatric disorders - additional genes
- Possible mitochondrial disorder - nuclear genes
- Multi-organ autoimmune diabetes
- Monogenic diabetes
- Early onset or syndromic epilepsy
- Fetal anomalies
- Severe microcephaly
- Undiagnosed metabolic disorders
- Diabetes with additional phenotypes suggestive of a monogenic aetiology
- Intellectual disability
- Childhood onset dystonia, chorea or related movement disorder
History Filter Activity
Added Tag
Arina Puzriakova (Genomics England Curator)Tag curated_removed tag was added to gene: IER3IP1.
Panel promoted to version 1.0
Ivone Leong (Genomics England Curator)Ivone Leong: Gene changed to grey status af
Added New Source, Status Update
Ivone Leong (Genomics England Curator)Source Expert Review Removed was added to IER3IP1. Rating Changed from Green List (high evidence) to No List (delete)
Set Phenotypes, Set publications
Ellen McDonagh (Genomics England Curator)Added phenotypes Microcephaly, epilepsy, and diabetes syndrome for gene: IER3IP1 Publications for gene IER3IP1 were changed from 21835305, 22991235, 24138066 to 21835305; 24138066; 22991235
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Ellen McDonagh (Genomics England Curator)gene: IER3IP1 was added gene: IER3IP1 was added to Monogenic diabetes. Sources: Expert Review Green 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; Microcephaly, epilepsy and diabetes syndrome