RTN2

reticulon 2
OMIM: 603183, ClinGen, DECIPHER

3 panels

Panel Reviews Mode of inheritance Details
3 panels

Green RTN2 in Mendeliome


Version 2.0

2 reviews BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Spastic paraplegia 12, autosomal dominant, 604805
  • MONDO:0011489
  • Neuronopathy, distal hereditary motor, autosomal recessive 11, with spasticity, MIM# 620854

Green RTN2 in Hereditary Spastic Paraplegia


Level 2: Neurology and neurodevelopmental disorders
Version 2.0

1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Spastic paraplegia 12, autosomal dominant, 604805
  • MONDO:0011489

Green RTN2 in Hereditary Neuropathy


Level 2: Neurology and neurodevelopmental disorders
Version 2.0

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Literature
  • Expert Review Green
  • Expert Review Green
  • Literature
Phenotypes
  • Neuronopathy, distal hereditary motor, autosomal recessive 11, with spasticity, MIM# 620854