1. Genes and Genomic Entities
  2. RTN4IP1

RTN4IP1

reticulon 4 interacting protein 1
OMIM: 610502, Gene2Phenotype

9 panels

Panel Reviews Mode of inheritance Details
9 panels
Green RTN4IP1 in Optic neuropathy


Level 2: Ophthalmology
Version 5.48
Latest signed off version: v5.0 (30 Apr 2025)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • London North GLH
  • Expert Review Green
  • Literature
Phenotypes
  • early-onset recessive optic neuropathy
Green RTN4IP1 in Likely inborn error of metabolism


Level 2: Metabolic
Version 8.98
Latest signed off version: v8.0 (30 Apr 2025)

Component of the following Super Panels:

  • Childhood onset leukodystrophy
  • Hypotonic infant
  • Paediatric disorders
  • Unexplained death in infancy and sudden unexplained death in childhood

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert Review Green
    • Victorian Clinical Genetics Services
    Phenotypes
    • Optic atrophy 10 with or without ataxia, mental retardation, and seizures 616732
    Green RTN4IP1 in Possible mitochondrial disorder - nuclear genes


    Level 2: Mitochondrial
    Version 4.23
    Latest signed off version: v4.0 (30 Apr 2025)

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • NHS GMS
    • Expert Review Green
    Phenotypes
    • Optic atrophy 10 with or without ataxia, mental retardation, and seizures, 616732
    Red RTN4IP1 in Fetal anomalies


    Level 2: Fetal (including NIPD)
    Version 6.157
    Latest signed off version: v6.0 (30 Apr 2025)

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • PAGE DD-Gene2Phenotype
    Phenotypes
    • EARLY-ONSET RECESSIVE OPTIC NEUROPATHY
    Green RTN4IP1 in DDG2P


    Version 6.426
    Latest signed off version: v6.0 (30 Apr 2025)

    Component of the following Super Panels:

  • Paediatric disorders

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • DD-Gene2Phenotype
    • Expert Review Green
    Phenotypes
    • EARLY-ONSET RECESSIVE OPTIC NEUROPATHY
    Green RTN4IP1 in Early onset or syndromic epilepsy


    Level 2: Neurology
    Version 8.147
    Latest signed off version: v8.0 (30 Apr 2025)

    Component of the following Super Panels:

  • Paediatric disorders
  • Unexplained death in infancy and sudden unexplained death in childhood

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Wessex and West Midlands GLH
    • NHS GMS
    • Expert Review Green
    • Expert Review
    Phenotypes
    • Optic atrophy 10 with or without ataxia, mental retardation, and seizures 616732
    Green RTN4IP1 in Intellectual disability


    Level 2: Developmental disorders
    Version 9.304
    Latest signed off version: v9.0 (30 Apr 2025)

    Component of the following Super Panels:

  • Childhood onset leukodystrophy
  • Hypotonic infant
  • Paediatric disorders

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • BRIDGE study SPEED NEURO Tier1 Gene
    Phenotypes
    • Optic atrophy 10, with or without ataxia, mental retardation, and seizures
    Green RTN4IP1 in Mitochondrial disorders


    Level 2: Mitochondrial
    Version 9.46
    Latest signed off version: v9.0 (30 Apr 2025)

    Component of the following Super Panels:

  • Childhood onset leukodystrophy

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Victorian Clinical Genetics Services
    Phenotypes
    • Optic atrophy 10 with or without ataxia, mental retardation, and seizures 616732
    Amber RTN4IP1 in Retinal disorders


    Level 2: Ophthalmology
    Version 8.99
    Latest signed off version: v8.0 (30 Apr 2025)

    		review Not set
    Sources
    • NHS GMS
    • RetNet
    • Expert Review Amber