REEP2

receptor accessory protein 2
OMIM: 609347, Gene2Phenotype

6 panels

Panel Reviews Mode of inheritance Details
6 panels

Green REEP2 in Hereditary spastic paraplegia

Level 3: Motor Disorders of the CNS
Level 2: Neurology and neurodevelopmental disorders
Version 1.259

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 Hereditary spastic paraplegia - childhood onset


Version 2.84
Latest signed off version: v2.18 (8 Oct 2020)

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

Green REEP2 in Hereditary spastic paraplegia - adult onset


Version 1.73
Latest signed off version: v1.27 (5 Aug 2021)

review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Yorkshire and North East GLH
  • South West GLH
  • Expert Review Green
  • NHS GMS
  • London North GLH
Phenotypes
  • ?Spastic paraplegia 72, autosomal dominant, 615625
  • ?Spastic paraplegia 72, autosomal dominant,615625
  • ?Spastic paraplegia 72, autosomal recessive, 615625
Tags
  • Q3_21_phenotype

Red REEP2 in Neurodegenerative disorders - adult onset


Version 2.201
Latest signed off version: v2.178 (5 Aug 2021)

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 3: Neurodevelopmental disorders
Level 2: Neurology and neurodevelopmental disorders
Version 3.1371
Latest signed off version: v3.2 (13 Feb 2020)

Component of the following Super Panels:

  • Hypotonic infant
  • Paediatric disorders
  • White matter disorders - childhood onset
  • 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

    Amber REEP2 in Severe Paediatric Disorders


    Version 1.84

    review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Next Generation Children Project
    • Expert Review Amber
    • Expert list
    Phenotypes
    • Small cell cancer of the lung, somatic, 182280
    • Osteosarcoma, somatic, 259500
    • Retinoblastoma, trilateral, 180200
    • Retinoblastoma, 180200
    • Bladder cancer, somatic, 109800