PanelApp
  1. Genes and Genomic Entities
  2. RTN4IP1

RTN4IP1

reticulon 4 interacting protein 1
OMIM: 610502, Gene2Phenotype

8 panels

Panel Reviews Mode of inheritance Details
8 panels

Red RTN4IP1 in Cerebral Palsy


Level 2: Neurology and neurodevelopmental disorders
Version 1.400

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Literature
Phenotypes
  • Optic atrophy 10 with or without ataxia, impaired intellectual development, and seizures, MIM#616732

Green RTN4IP1 in Mendeliome


Version 1.3512

1 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, MIM#616732

Green RTN4IP1 in Optic Atrophy


Level 2: Ophthalmological disorders
Version 1.54

Component of the following Super Panels:

  • Retinal Disorders Superpanel

    		•  1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert Review
    Phenotypes
    • Optic atrophy 10 with or without ataxia, mental retardation, and seizures

    Green RTN4IP1 in Genetic Epilepsy


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.267

    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
    • Optic atrophy 10 with or without ataxia, mental retardation, and seizures, MIM#616732

    Green RTN4IP1 in Mitochondrial disease


    Level 2: Metabolic disorders
    Version 0.1085

    Component of the following Super Panels:

  • Metabolic Disorders Superpanel
  • Progressive Neurological Conditions

    		•  1 review Unknown
    Sources
    • Victorian Clinical Genetics Services
    • Australian Genomics Health Alliance Mitochondrial Flagship
    • Expert Review Green

    Green RTN4IP1 in Intellectual disability syndromic and non-syndromic


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.410

    		1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Genetic Health Queensland
    Phenotypes
    • Optic atrophy 10 with or without ataxia, mental retardation, and seizures, MIM#616732

    Green RTN4IP1 in Mackenzie's Mission_Reproductive Carrier Screening


    Level 2: Screening
    Version 0.110

    		0 reviews BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Mackenzie's Mission
    Phenotypes
    • Optic atrophy 10 with or without ataxia, mental retardation, and seizures, 616732 (3), Autosomal recessive

    Green RTN4IP1 in Prepair 1000+


    Level 2: Screening
    Version 2.14

    		1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Mackenzie's Mission
    Phenotypes
    • Optic atrophy 10 with or without ataxia, impaired intellectual development and seizures MIM#616732