Gene Role Disease OMIM Descriptions Sources
SLC24A1 causing CSNB1D 613830 The disease is caused by mutations affecting the gene represented in this entry. An autosomal recessive form of congenital stationary night blindness, a non-progressive retinal disorder characterized by impaired night vision. CSNB1D is characterized by a Riggs type of electroretinogram (proportionally reduced a- and b-waves). Patients have visual acuity within the normal range and no symptoms of myopia and/or nystagmus. [read more] 20850105
THOC6 MRT). Mental retardation is defined by significant limitations in intellectual functioning and adaptive behavior with an age of onset being less than 18 years. Patients with THOC6 mutations manifest significant learning disabilities, head circumference at the 2nd centile without apparent structural THOC6 mutations may be a cause of autosomal recessive mental retardation (MRT). Mental retardation is defined by significant limitations in intellectual functioning and adaptive behavior with an age of onset being less than 18 years. Patients with THOC6 mutations manifest significant learning disabilities, head circumference at the 2nd centile without apparent structural CNS malformations on MRI, and recognizable facial features including a tall forehead with high anterior hairline, deeply-set eyes with short, upslanting palpebral fissures, long nose with lowhanging columella, and thick vermilion of the upper and lower lip. Other clinical features include dental malocclusion and caries, myopia, malformations of the heart, and renal abnormalities (PubMed:23621916). [read more] 23621916
TRPM1 causing CSNB1C 613216 The disease is caused by mutations affecting the gene represented in this entry. A non-progressive retinal disorder characterized by impaired night vision, often associated with nystagmus and myopia. [read more] 19878917
19896109
19896113
VCAN causing WGVRP 143200 The disease is caused by mutations affecting the gene represented in this entry. The pathological mechanism involves a quantitave imbalance of the normally occurring splice variants (PubMed:22739342). A rare vitreoretinopathy characterized by an optically empty vitreous cavity with fibrillary condensations and a preretinal avascular membrane. Other optical features include progressive chorioretinal atrophy, perivascular sheating, subcapsular cataract and myopia. [read more] 16043844
22739342
ZNF644 causing MYP21 614167 The disease is caused by mutations affecting the gene represented in this entry. A refractive error of the eye, in which parallel rays from a distant object come to focus in front of the retina, vision being better for near objects than for far. [read more] 21695231