IER3IP1:Ensemblv90

immediate early response 3 interacting protein 1
OMIM: 609382, ClinGen, DECIPHER

14 panels

Panel Reviews Mode of inheritance Details
14 panels

Green IER3IP1 in Mendeliome


Version 1.3802

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Microcephaly, epilepsy, and diabetes syndrome, MIM# 614231
  • Primary microcephaly-epilepsy-permanent neonatal diabetes syndrome, MONDO:0013647

Green IER3IP1 in Microcephaly


Level 2: Dysmorphic and congenital abnormality syndromes
Version 1.376

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Microcephaly, epilepsy, and diabetes syndrome, MIM# 614231
  • Primary microcephaly-epilepsy-permanent neonatal diabetes syndrome, MONDO:0013647

Green IER3IP1 in Genetic Epilepsy


Level 2: Neurology and neurodevelopmental disorders
Version 1.309

Component of the following Super Panels:

  • Progressive Neurological Conditions
  • 1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Victorian Clinical Genetics Services
    • Australian Genomics Health Alliance Epilepsy Flagship
    Phenotypes
    • Microcephaly, epilepsy, and diabetes syndrome, MIM# 614231
    • Primary microcephaly-epilepsy-permanent neonatal diabetes syndrome, MONDO:0013647

    Green IER3IP1 in Intellectual disability syndromic and non-syndromic


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.508

    1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Genetic Health Queensland
    Phenotypes
    • Microcephaly, epilepsy, and diabetes syndrome, MIM# 614231
    • Primary microcephaly-epilepsy-permanent neonatal diabetes syndrome, MONDO:0013647

    Green IER3IP1 in Monogenic Diabetes


    Level 2: Endocrine disorders
    Version 0.152

    Component of the following Super Panels:

  • Metabolic Disorders Superpanel
  • 1 review 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

    Green IER3IP1 in Mackenzie's Mission_Reproductive Carrier Screening


    Level 2: Screening
    Version 0.111

    0 reviews BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Mackenzie's Mission
    Phenotypes
    • Microcephaly, epilepsy, and diabetes syndrome, 614231 (3)

    Green IER3IP1 in Fetal anomalies


    Version 1.482

    1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Genomics England PanelApp
    • Genetic Health Queensland
    Phenotypes
    • Microcephaly, epilepsy, and diabetes syndrome, MIM# 614231
    • Primary microcephaly-epilepsy-permanent neonatal diabetes syndrome, MONDO:0013647

    Green IER3IP1 in Prepair 1000+


    Level 2: Screening
    Version 2.15

    1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Mackenzie's Mission
    Phenotypes
    • Microcephaly, epilepsy, and diabetes syndrome, MIM# 614231

    Green IER3IP1 in Genetic Epilepsy


    Level 2: Neurology and neurodevelopmental disorders
    Version 2.0

    1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Australian Genomics Health Alliance Epilepsy Flagship
    • Victorian Clinical Genetics Services
    • Expert Review Green
    Phenotypes
    • Microcephaly, epilepsy, and diabetes syndrome, MIM# 614231
    • Primary microcephaly-epilepsy-permanent neonatal diabetes syndrome, MONDO:0013647

    Green IER3IP1 in Intellectual disability syndromic and non-syndromic


    Level 2: Neurology and neurodevelopmental disorders
    Version 2.0

    1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Genetic Health Queensland
    • Expert Review Green
    Phenotypes
    • Microcephaly, epilepsy, and diabetes syndrome, MIM# 614231
    • Primary microcephaly-epilepsy-permanent neonatal diabetes syndrome, MONDO:0013647

    Green IER3IP1 in Monogenic Diabetes


    Level 2: Endocrine disorders
    Version 1.0

    1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • UKGTN
    • Expert Review Green
    Phenotypes
    • Microcephaly, epilepsy, and diabetes syndrome, MIM# 614231
    • Primary microcephaly-epilepsy-permanent neonatal diabetes syndrome, MONDO:0013647

    Green IER3IP1 in Mackenzie's Mission_Reproductive Carrier Screening


    Level 2: Screening
    Version 1.0

    0 reviews BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Mackenzie's Mission
    • Expert Review Green
    Phenotypes
    • Microcephaly, epilepsy, and diabetes syndrome, 614231 (3)

    Green IER3IP1 in Fetal anomalies


    Version 2.0

    1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Genetic Health Queensland
    • Genomics England PanelApp
    • Expert Review Green
    Phenotypes
    • Microcephaly, epilepsy, and diabetes syndrome, MIM# 614231
    • Primary microcephaly-epilepsy-permanent neonatal diabetes syndrome, MONDO:0013647

    Green IER3IP1 in Prepair 1000+


    Level 2: Screening
    Version 3.0

    1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Mackenzie's Mission
    • Expert Review Green
    Phenotypes
    • Microcephaly, epilepsy, and diabetes syndrome, MIM# 614231