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Undiagnosed metabolic disorders

Gene: IER3IP1

Green List (high evidence)

IER3IP1 (immediate early response 3 interacting protein 1)
EnsemblGeneIds (GRCh38): ENSG00000134049
EnsemblGeneIds (GRCh37): ENSG00000134049
OMIM: 609382, Gene2Phenotype
IER3IP1 is in 15 panels

2 reviews

Helen Brittain (Genomics England Curator)

Green List (high evidence)

On a further review of the phenotypes reported, this condition could initially present as a mimic of a mitochondrial presentation e.g. abnormal liver enzymes, diabetes, neurological dysfunction and therefore a green rating on this panel would seem appropriate.
Created: 18 Sep 2019, 11:52 a.m. | Last Modified: 18 Sep 2019, 11:52 a.m.
Panel Version: 1.264

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Microcephaly, epilepsy, and diabetes syndrome, 614231

Sarah Leigh (Genomics England Curator)

I don't know

Comment on list classification: Based on recommendation of Helen Britain (Clinical Fellow, Genomics England), that patients will present with features of microcephaly / neonatal diabetes / developmental delay, rather than metabolic disorder.
Created: 8 Aug 2019, 5:15 p.m. | Last Modified: 8 Aug 2019, 5:15 p.m.
Panel Version: 1.127
Sources: Other
Created: 8 Aug 2019, 5:12 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Microcephaly, epilepsy, and diabetes syndrome 614231

Publications

History Filter Activity

18 Sep 2019, Gel status: 3

Entity classified by Genomics England curator

Helen Brittain (Genomics England Curator)

Gene: ier3ip1 has been classified as Green List (High Evidence).

18 Sep 2019, Gel status: 3

Entity classified by Genomics England curator

Helen Brittain (Genomics England Curator)

Gene: ier3ip1 has been classified as Green List (High Evidence).

8 Aug 2019, Gel status: 2

Entity classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

Gene: ier3ip1 has been classified as Amber List (Moderate Evidence).

8 Aug 2019, Gel status: 1

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Sarah Leigh (Genomics England Curator)

gene: IER3IP1 was added gene: IER3IP1 was added to Undiagnosed metabolic disorders. Sources: Other 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 Review for gene: IER3IP1 was set to AMBER