Structural eye disease
Gene: CHM
retinal gene, can't find any evidence that it is associated with structural eye diseaseCreated: 19 Jun 2019, 3:32 p.m.
Mode of inheritance
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Phenotypes
Choroideremia; 303100
Submitted on behalf of Professor Nicola Ragge (Wessex and West Midlands GLH). retinal gene, can't find any evidence that it is associated with structural eye diseaseCreated: 17 Apr 2019, 3:30 p.m.
Mode of inheritance
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Phenotypes
Choroideremia, 303100
Source NHS GMS was added to CHM. Mode of inheritance for gene CHM was changed from to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Added phenotypes Choroideremia, 303100 for gene: CHM
gene: CHM was added gene: CHM was added to Structural eye disease. Sources: Expert Review Red Mode of inheritance for gene: CHM was set to Phenotypes for gene: CHM were set to Eye Disorders