Possible mitochondrial disorder - nuclear genes
Gene: IER3IP1EnsemblGeneIds (GRCh38): ENSG00000134049
EnsemblGeneIds (GRCh37): ENSG00000134049
OMIM: 609382, Gene2Phenotype
IER3IP1 is in 16 panels
3 reviews
Ivone Leong (Genomics England Curator)
Initial gene list and info collated by Carl Fratter (Oxford University Hospitals NHS Trust) January 2019 on behalf of the GMS Mitochondrial specialist test group.Created: 4 Feb 2019, 1:36 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Microcephaly, epilepsy, and diabetes syndrome, 614231
Zornitza Stark (Australian Genomics)
Definitely a green gene; however, link to mitochondrial dysfunction seems indirect.Created: 30 Aug 2018, 5:28 a.m.
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, 4:43 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
-
- NHS GMS
- Expert Review Red
- Other
- Phenotypes
-
- Microcephaly, epilepsy, and diabetes syndrome, 614231
- 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
Clear Sources
Arina Puzriakova (Genomics England Curator)Source: Expert Review Green was removed from gene: IER3IP1
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Ivone Leong (Genomics England Curator)gene: IER3IP1 was added gene: IER3IP1 was added to Possible mitochondrial disorder - nuclear genes. Sources: Expert Review Red,NHS GMS Mode of inheritance for gene: IER3IP1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: IER3IP1 were set to Microcephaly, epilepsy, and diabetes syndrome, 614231