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  2. Congenital Stationary Night Blindness
  3. CHM
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Congenital Stationary Night Blindness

Gene: CHM

Green List (high evidence)
CHM (CHM, Rab escort protein 1)
EnsemblGeneIds (GRCh38): ENSG00000188419
EnsemblGeneIds (GRCh37): ENSG00000188419
OMIM: 300390, Gene2Phenotype
CHM is in 7 panels

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Details

Mode of Inheritance
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Choroideremia (degeneration of the choriocapillaris, the retinal pigment epithelium, and the photoreceptor of the eye)
OMIM
300390
Clinvar variants
Variants in CHM
Penetrance
None
Panels with this gene

History Filter Activity

24 Dec 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Bryony Thompson (Royal Melbourne Hospital)

gene: CHM was added gene: CHM was added to Congenital Stationary Night Blindness_RMH. Sources: Royal Melbourne Hospital,Expert Review Green Mode of inheritance for gene: CHM was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Phenotypes for gene: CHM were set to Choroideremia (degeneration of the choriocapillaris, the retinal pigment epithelium, and the photoreceptor of the eye)