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  2. Monogenic Diabetes
  3. IER3IP1
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Monogenic Diabetes

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 8 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Four unrelated families reported.
Created: 28 Mar 2021, 6:48 a.m. | Last Modified: 28 Mar 2021, 6:48 a.m.
Panel Version: 0.9

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Microcephaly, epilepsy, and diabetes syndrome, MIM# 614231; Primary microcephaly-epilepsy-permanent neonatal diabetes syndrome, MONDO:0013647

Publications

Created: 28 Mar 2021, 6:48 a.m.
Last Modified: 28 Mar 2021, 6:48 a.m.
Panel version: 0.9

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • UKGTN
Phenotypes
  • Microcephaly, epilepsy, and diabetes syndrome, MIM# 614231
  • Primary microcephaly-epilepsy-permanent neonatal diabetes syndrome, MONDO:0013647
OMIM
609382
Clinvar variants
Variants in IER3IP1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

28 Mar 2021, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

28 Mar 2021, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: IER3IP1 were changed from Microcephaly, epilepsy, and diabetes syndrome to Microcephaly, epilepsy, and diabetes syndrome, MIM# 614231; Primary microcephaly-epilepsy-permanent neonatal diabetes syndrome, MONDO:0013647

17 Jan 2020, Gel status: 3

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: IER3IP1 was added gene: IER3IP1 was added to Monogenic diabetes. Sources: UKGTN,Expert Review Green Mode of inheritance for gene: IER3IP1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: IER3IP1 were set to 22991235; 24138066; 21835305 Phenotypes for gene: IER3IP1 were set to Microcephaly, epilepsy, and diabetes syndrome