1. Panels
  2. Gene therapy clinical trials
  3. CHM
STRs in panel
Prev Next
Regions in panel
Prev Next

Gene therapy clinical trials

Gene: CHM

Green List (high evidence)
CHM (CHM, Rab escort protein 1)
EnsemblGeneIds (GRCh38): ENSG00000188419
EnsemblGeneIds (GRCh37): ENSG00000188419
OMIM: 300390, Gene2Phenotype
CHM is in 6 panels

1 review

Ellen McDonagh (Genomics England Curator)

Green List (high evidence)

Added the tag ‘gene-therapy-trial’ as this gene is within the Gene Therapy Panel available here: https://panelapp.genomicsengland.co.uk/panels/412
Created: 14 May 2018, 9:29 a.m.
REP1 (encoded by the CHM gene) replacement therapy. Drug: rAAV2.REP1 - trial https://ClinicalTrials.gov/show/NCT01461213. Genetic: AAV-mediated REP1 gene replacement - trial https://ClinicalTrials.gov/show/NCT02407678. Genetic: AAV2-REP1 - https://ClinicalTrials.gov/show/NCT03496012.
Created: 2 May 2018, 3:12 p.m.

Phenotypes
Choroideraemia

Created: 2 May 2018, 3:12 p.m.

Panel version: 0.6

Details

Sources
  • Expert Review Green
  • ClinicalTrials.gov
Phenotypes
  • Choroideraemia
OMIM
300390
Clinvar variants
Variants in CHM
Penetrance
None
Panels with this gene

History Filter Activity

12 May 2018, Gel status: 4

Set penetrance

Ellen McDonagh (Genomics England Curator)

Phenotypes for gene CHM were set to Choroideraemia

2 May 2018, Gel status: 4

Added New Source

Ellen McDonagh (Genomics England Curator)

CHM was added to Gene therapy clinical trials panel. Sources: ClinicalTrials.gov,Expert Review Green

2 May 2018, Gel status: 4

Created

Ellen McDonagh (Genomics England Curator)

CHM was created by Ellen McDonagh