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 8.44
Latest signed off version: v8.0 (30 Apr 2025)

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 6.9
Latest signed off version: v6.0 (30 Apr 2025)

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 8.21
Latest signed off version: v8.0 (30 Apr 2025)

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 9.370
Latest signed off version: v9.0 (30 Apr 2025)

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 7.45
    Latest signed off version: v7.0 (30 Apr 2025)

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