RTN2

reticulon 2
OMIM: 603183, Gene2Phenotype

6 panels

Panel Reviews Mode of inheritance Details
6 panels
Green RTN2 in Hereditary spastic paraplegia

Level 3: Motor Disorders of the CNS
Level 2: Neurology and neurodevelopmental disorders
Version 1.316

review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
  • Expert list
  • Illumina TruGenome Clinical Sequencing Services
Phenotypes
  • Spastic paraplegia 12, autosomal dominant, OMIM:604805
  • distal hereditary motor neuropathy, MONDO:0018894
  • Lower limb spasticity, HP:0002061
Green RTN2 in Childhood onset hereditary spastic paraplegia


Level 2: Neurology
Version 9.1
Latest signed off version: v9.0 (6 May 2026)

review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Yorkshire and North East GLH
  • NHS GMS
  • London North GLH
  • Illumina TruGenome Clinical Sequencing Services
  • Expert Review Green
  • Expert list
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Spastic paraplegia 12, autosomal dominant, OMIM:604805
  • distal hereditary motor neuropathy, MONDO:0018894
  • Lower limb spasticity, HP:0002061
Green RTN2 in Adult onset hereditary spastic paraplegia


Level 2: Neurology
Version 6.11
Latest signed off version: v6.10 (6 May 2026)

Component of the following Super Panels:

  • Adult-onset neurological disorders
  • review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Yorkshire and North East GLH
    • Expert Review Green
    • NHS GMS
    • London North GLH
    Phenotypes
    • Spastic paraplegia 12, autosomal dominant, 604805
    Red RTN2 in Adult onset neurodegenerative disorder


    Level 2: Neurology
    Version 9.1
    Latest signed off version: v9.0 (6 May 2026)

    Component of the following Super Panels:

  • Adult-onset neurological disorders
  • review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Red
    • Wessex and West Midlands GLH
    • Yorkshire and North East GLH
    • NHS GMS
    • London North GLH
    Phenotypes
    • Spastic paraplegia 12, autosomal dominant
    Red RTN2 in Intellectual disability


    Level 2: Developmental disorders
    Version 10.17
    Latest signed off version: v10.0 (6 May 2026)

    Component of the following Super Panels:

  • Childhood onset leukodystrophy
  • Hypotonic infant
  • Paediatric disorders
  • review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Red
    • BRIDGE study SPEED NEURO Tier1 Gene
    Phenotypes
    • Spastic paraplegia 12, autosomal dominant, 604805
    Green RTN2 in Hereditary neuropathy or pain disorder


    Level 2: Neurology
    Version 8.1
    Latest signed off version: v8.0 (6 May 2026)

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • NHS GMS
    • Literature
    Phenotypes
    • distal hereditary motor neuropathy, MONDO:0018894