REEP2:Ensemblv90

receptor accessory protein 2
OMIM: 609347, ClinGen, DECIPHER

3 panels

Panel Reviews Mode of inheritance Details
3 panels

Green REEP2 in Mendeliome


Version 1.3802

2 reviews BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Spastic paraplegia 72, dominant and recessive, MIM# 615625
  • MONDO:0014282

Green REEP2 in Hereditary Spastic Paraplegia


Level 2: Neurology and neurodevelopmental disorders
Version 1.130

Component of the following Super Panels:

  • Hereditary Spastic Paraplegia Superpanel
  • Neuromuscular Superpanel
  • Progressive Neurological Conditions
  • 1 review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Royal Melbourne Hospital
    Phenotypes
    • Spastic paraplegia 72, dominant and recessive, MIM# 615625
    • MONDO:0014282

    Green REEP2 in Hereditary Spastic Paraplegia


    Level 2: Neurology and neurodevelopmental disorders
    Version 2.0

    1 review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • Royal Melbourne Hospital
    • Expert Review Green
    Phenotypes
    • Spastic paraplegia 72, dominant and recessive, MIM# 615625
    • MONDO:0014282