Severe microcephaly
Gene: IER3IP1EnsemblGeneIds (GRCh38): ENSG00000134049
EnsemblGeneIds (GRCh37): ENSG00000134049
OMIM: 609382, Gene2Phenotype
IER3IP1 is in 16 panels
2 reviews
Louise Daugherty (Genomics England Curator)
As discussed with the GMS Neurology Specialist Test Group webex call 11th July 2019: The Specialist Test Group all agreed that there is enough evidence to rate this gene GreenCreated: 29 Jul 2019, 4:18 p.m. | Last Modified: 29 Jul 2019, 4:18 p.m.
Panel Version: 1.62
Rebecca Foulger (Genomics England curator)
Comment on list classification: Updated rating from Red to Green after discussion with clinical team:Not a DDG2P confirmed gene, but >3 cases (and 3 variants) of IER3IP1 mutations linked to MEDS (OMIM:614231).Created: 19 Jan 2017, 10:54 a.m.
>3 cases (and 3 variants) of IER3IP1 mutations causing microcephaly, epilepsy, and diabetes syndrome (MEDS; 614231).Created: 19 Jan 2017, 9:39 a.m.
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- NHS GMS
- Expert Review Green
- Other
- Phenotypes
-
- Microcephaly, epilepsy, and diabetes syndrome, 614231
- Microcephaly (-3 to -9 SD)
- OMIM
- 609382
- Clinvar variants
- Variants in IER3IP1
- Penetrance
- Complete
- Publications
- Panels with this gene
-
- Mitochondrial disorders
- DDG2P
- Fetal anomalies
- Familial diabetes
- Neonatal diabetes
- Likely inborn error of metabolism
- Paediatric disorders - additional genes
- Possible mitochondrial disorder - nuclear genes
- Multi-organ autoimmune diabetes
- Early onset or syndromic epilepsy
- Severe microcephaly
- Undiagnosed metabolic disorders
- Diabetes with additional phenotypes suggestive of a monogenic aetiology
- Monogenic diabetes
- Intellectual disability
- Childhood onset dystonia, chorea or related movement disorder
History Filter Activity
Added New Source
Louise Daugherty (Genomics England Curator)Source NHS GMS was added to IER3IP1.
panel promoted to version 1
Rebecca Foulger (Genomics England curator)2nd March 2017: Panel review was assessed and panel was revised according to expert review and additional curation. This panel began with an expert gene list from Professor Andrew Jackson (University of Edinburgh) for primary microcephaly (MCPH) and microcephalic primordial dwarfism (MPD). Other disorders are included where microcephaly is a primary feature. Disorders where microcephaly is not the primary presenting feature are not included (e.g. congenital disorders of glycosylation, Proud syndrome, Norrie disease). The panel does not include disorders with a cortical malformation (e.g. lissencephaly) since the Malformations of cortical development' panel would be applied to these patients.
Set Phenotypes
Rebecca Foulger (Genomics England curator)Phenotypes for gene IER3IP1 were set to Microcephaly, epilepsy, and diabetes syndrome, 614231; Microcephaly (-3 to -9 SD)
Gene classified by Genomics England curator
Rebecca Foulger (Genomics England curator)This gene has been classified as Green List (High Evidence).
Added New Source
Rebecca Foulger (Genomics England curator)IER3IP1 was added to Primary Microcephaly - Microcephalic Dwarfism Spectrumpanel. Sources: Other
Created
Rebecca Foulger (Genomics England curator)IER3IP1 was created by rfoulger