IER3IP1

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

14 panels

Panel Reviews Mode of inheritance Details
14 panels

No list IER3IP1 in Multi-organ autoimmune diabetes

Level 3: Disorders of unusual phenotypes
Level 2: Endocrine disorders
Version 1.7

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 2.0

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 2.1

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 1.74

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 1.411

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 1.392

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

Red IER3IP1 in Possible mitochondrial disorder - nuclear genes


Version 1.12

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 0.346

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 0.33

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 1.405

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 2.1098

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 2.1

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