Structural eye disease
Gene: RS1
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
Retinoschisis; 312700
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
Retinoschisis, 312700
Source NHS GMS was added to RS1. Mode of inheritance for gene RS1 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 Retinoschisis, 312700 for gene: RS1
gene: RS1 was added gene: RS1 was added to Structural eye disease. Sources: Expert Review Red Mode of inheritance for gene: RS1 was set to Phenotypes for gene: RS1 were set to Eye Disorders