CHM

CHM, Rab escort protein 1
OMIM: 300390
PanelMode of inheritanceDetails
2 panels
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 2.2
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes
CHOROIDEREMIA 303100
R-numbers: R32, R33, R34, R35
Signed-off version 2.195
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Phenotypes
Choroideremia, Eye Disorders, Retinitis pigmentosa, Choroideremia (degeneration of the choriocapillaris, the retinal pigment epithelium, and the photoreceptor of the eye)