REEP2

receptor accessory protein 2
OMIM: 609347, Gene2Phenotype

5 panels

Panel Reviews Mode of inheritance Details
5 panels
Green REEP2 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
  • Other
  • Literature
Phenotypes
  • ?Spastic paraplegia 72, autosomal recessive, 615625
  • ?Spastic paraplegia 72, autosomal dominant,615625
Green REEP2 in Childhood onset hereditary spastic paraplegia


Level 2: Neurology
Version 8.39
Latest signed off version: v8.0 (30 Apr 2025)

review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Yorkshire and North East GLH
  • NHS GMS
  • London North GLH
  • Literature
  • Other
Phenotypes
  • Spastic paraplegia 72, autosomal dominant,615625
  • Spastic paraplegia 72, autosomal recessive, 615625
Amber REEP2 in Adult onset hereditary spastic paraplegia


Level 2: Neurology
Version 6.9
Latest signed off version: v6.0 (30 Apr 2025)

review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Yorkshire and North East GLH
  • South West GLH
  • NHS GMS
  • London North GLH
Phenotypes
  • ?Spastic paraplegia 72, autosomal dominant, 615625
  • ?Spastic paraplegia 72, autosomal dominant,615625
  • ?Spastic paraplegia 72, autosomal recessive, 615625
Red REEP2 in Adult onset neurodegenerative disorder


Level 2: Neurology
Version 8.19
Latest signed off version: v8.0 (30 Apr 2025)

review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Wessex and West Midlands GLH
  • Yorkshire and North East GLH
  • London North GLH
  • NHS GMS
  • South West GLH
Phenotypes
  • ?Spastic paraplegia 72, autosomal recessive, 615625
  • ?Spastic paraplegia 72, autosomal dominant,615625
Red REEP2 in Intellectual disability


Level 2: Developmental disorders
Version 9.330
Latest signed off version: v9.0 (30 Apr 2025)

Component of the following Super Panels:

  • Childhood onset leukodystrophy
  • Hypotonic infant
  • Paediatric disorders
  • review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • BRIDGE study SPEED NEURO Tier1 Gene
    Phenotypes
    • ?Spastic paraplegia 72, autosomal recessive, 615625
    • ?Spastic paraplegia 72, autosomal dominant, 615625