IER3IP1

immediate early response 3 interacting protein 1
OMIM: 609382, Gene2Phenotype

16 panels

Panel Reviews Mode of inheritance Details
16 panels

No list IER3IP1 in Multi-organ autoimmune diabetes

Level 3: Disorders of unusual phenotypes
Level 2: Endocrine disorders
Version 1.8

review Not set
Sources
  • Expert Review Removed
  • UKGTN
Phenotypes
  • Neonatal Diabetes

Green IER3IP1 in Diabetes with additional phenotypes suggestive of a monogenic aetiology

Level 3: Disorders of unusual phenotypes
Level 2: Endocrine disorders
Version 1.59

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • UKGTN
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Microcephaly, epilepsy, and diabetes syndrome, 614231
  • Microcephaly, epilepsy and diabetes syndrome

Green IER3IP1 in Diabetes - neonatal onset

Level 3: Disorders of unusual phenotypes
Level 2: Endocrine disorders
Version 2.3
Signed off v.2.2 on 19 Feb 2020

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Expert Review Green
  • Eligibility statement prior genetic testing
  • UKGTN
Phenotypes
  • Microcephaly, epilepsy and diabetes syndrome, 614231
  • neonatal diabetes
  • permanent neonatal diabetes

Green IER3IP1 in Familial diabetes

Level 3: Disorders of unusual phenotypes
Level 2: Endocrine disorders
Version 1.38

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Removed
  • Expert Review Green
  • UKGTN
Phenotypes
  • Microcephaly, epilepsy, and diabetes syndrome

No list IER3IP1 in Monogenic diabetes


Version 2.3
Signed off v.2.2 on 25 Feb 2020

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Removed
Phenotypes
  • Microcephaly, epilepsy, and diabetes syndrome, 614231
  • Microcephaly, epilepsy, and diabetes syndrome
  • Microcephaly, epilepsy and diabetes syndrome

Green IER3IP1 in Severe microcephaly

Level 3: DNA repair disorders
Level 2: Dysmorphic and congenital abnormality syndromes
Version 2.4
Signed off v.2.2 on 2 Mar 2020

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Expert Review Green
  • Other
Phenotypes
  • Microcephaly, epilepsy, and diabetes syndrome, 614231
  • Microcephaly (-3 to -9 SD)

Green IER3IP1 in Undiagnosed metabolic disorders

Level 3: Specific metabolic abnormalities
Level 2: Metabolic disorders
Version 1.413

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Other
Phenotypes
  • Microcephaly, epilepsy, and diabetes syndrome 614231

Green IER3IP1 in Inborn errors of metabolism


Version 2.5
Signed off v.2.3 on 17 Feb 2020

Component of the following Super Panels:

  • Hypotonic infant
  • Paediatric disorders
  • White matter disorders - childhood onset
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert Review Red
    • Expert Review Green
    • Other
    Phenotypes
    • Microcephaly, epilepsy, and diabetes syndrome, 614231
    • MEDS

    Red IER3IP1 in Possible mitochondrial disorder - nuclear genes


    Version 1.14
    Signed off v.1.13 on 17 Feb 2020

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • NHS GMS
    • Expert Review Red
    • Expert Review Green
    • Other
    Phenotypes
    • Microcephaly, epilepsy, and diabetes syndrome, 614231

    Green IER3IP1 in Fetal anomalies


    Version 1.3
    Signed off v.1.2 on 17 Feb 2020

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • PAGE Additional Gene List
    • Expert Review Green
    Phenotypes
    • Microcephaly, epilepsy, and diabetes syndrome 614231

    Green IER3IP1 in Paediatric disorders - additional genes


    Version 1.2
    Signed off v.1.1 on 11 Feb 2020

    Component of the following Super Panels:

  • Paediatric disorders
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Other
    Phenotypes
    • Microcephaly, epilepsy, and diabetes syndrome, 614231
    • MEDS

    Green IER3IP1 in Genetic epilepsy syndromes

    Level 3: Inherited Epilepsy Syndromes
    Level 2: Neurology and neurodevelopmental disorders
    Version 2.34
    Signed off v.2.2 on 13 Feb 2020

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Wessex and West Midlands GLH
    • NHS GMS
    • NIHRBR-RD Consortium SPEED_v3.0_20170404
    • Victorian Clinical Genetics Services
    • Other
    • Expert Review Green
    • Expert Review Green
    • Other
    Phenotypes
    • Microcephaly, epilepsy, and diabetes syndrome, 614231
    • MEDS

    Green IER3IP1 in Intellectual disability

    Level 3: Neurodevelopmental disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 3.24
    Signed off v.3.2 on 13 Feb 2020

    Component of the following Super Panels:

  • Hypotonic infant
  • Paediatric disorders
  • White matter disorders - childhood onset
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Victorian Clinical Genetics Services
    • Expert Review Green
    • Expert Review Green
    • Expert Review Red
    • Radboud University Medical Center, Nijmegen
    Phenotypes
    • Microcephaly, epilepsy, and diabetes syndrome, 614231
    • MEDS
    • Intellectual disability

    Red IER3IP1 in Mitochondrial disorders

    Level 3: Mitochondrial
    Level 2: Metabolic disorders
    Version 2.5
    Signed off v.2.4 on 17 Feb 2020

    Component of the following Super Panels:

  • White matter disorders - childhood onset
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • Other
    Phenotypes
    • Microcephaly, epilepsy, and diabetes syndrome, 614231
    • MEDS

    Red IER3IP1 in Childhood onset dystonia or chorea or related movement disorder


    Version 1.4
    Signed off v.1.2 on 25 Feb 2020

    review Not set
    Sources
    • Expert Review Red
    • London North GLH

    Green IER3IP1 in Severe Paediatric Disorders


    Version 1.1

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Next Generation Children Project
    • Expert Review Green
    • Expert list
    Phenotypes
    • Microcephaly, epilepsy, and diabetes syndrome, 614231