Genes in panel
STRs in panel
Prev Next
Regions in panel
Prev Next

Severe Paediatric Disorders

Gene: REEP2

Amber List (moderate evidence)

REEP2 (receptor accessory protein 2)
EnsemblGeneIds (GRCh38): ENSG00000132563
EnsemblGeneIds (GRCh37): ENSG00000132563
OMIM: 609347, Gene2Phenotype
REEP2 is in 6 panels

1 review

Louise Daugherty (Genomics England Curator)

I don't know

Initial gene list (NGC_genelist-20190823_GREEN_dis_moi_forCuration_20200211.xlsx) collated by Dr Courtney French (University of Cambridge University Hospital NHS Foundation), Dr Karyn Megy (Clinical Feedback Lead, NIHR BioResource - Rare Diseases Study, University of Cambridge University Hospital NHS Foundation), Dr Alba Sanchis-Juan (NIHR BioResource - Rare Diseases Study, University of Cambridge University Hospital NHS Foundation) and Lucy Raymond (Professor of Medical Genetics and Neurodevelopment, University of Cambridge University Hospital NHS Foundation). Submitted to the PanelApp resource January 2020 on behalf of the Next Generation Children Project, Addenbrookes' Hospital, Cambridge. Gene Symbol submitted: REEP2; Recommended initial gene rating: I don't know; Phenotypes: Bladder cancer, somatic, 109800 (3) | Osteosarcoma, somatic, 259500 (3) | Retinoblastoma, 180200 (3) | Retinoblastoma, trilateral, 180200 (3) | Small cell cancer of the lung, somatic, 182280 (3); Mode of inheritance: ND | ND | Autosomal dominant, Somatic mutation | Autosomal dominant, Somatic mutation | ND
Created: 20 Feb 2020, 5:28 p.m. | Last Modified: 20 Feb 2020, 5:28 p.m.
Panel Version: 0.12

Details

Mode of Inheritance
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
OMIM
609347
Clinvar variants
Variants in REEP2
Penetrance
None
Publications
Panels with this gene

History Filter Activity

20 Feb 2020, Gel status: 2

Set p