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Structural eye disease v0.76 | CACNA1F | Nicola Ragge reviewed gene: CACNA1F: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Night blindness, congenital stationary (incomplete), 2A, X-linked, Cone-rod dystropy, X-linked, 3, Aland Island eye disease, 300071, 300476, 300600; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Structural eye disease v0.38 | CACNA1F | Ivone Leong reviewed gene: CACNA1F: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Night blindness, congenital stationary (incomplete), 2A, X-linked, 300071, Cone-rod dystropy, X-linked, 3, 300476, Aland Island eye disease, 300600; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Structural eye disease v0.15 | CACNA1F |
Ivone Leong Source NHS GMS was added to CACNA1F. Mode of inheritance for gene CACNA1F 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 Cone-rod dystropy, X-linked, 3, 300476; Aland Island eye disease, 300600; Night blindness, congenital stationary (incomplete), 2A, X-linked, 300071 for gene: CACNA1F |
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Structural eye disease v0.2 | CACNA1F |
Ellen McDonagh gene: CACNA1F was added gene: CACNA1F was added to Structural eye disease. Sources: Expert Review Red Mode of inheritance for gene: CACNA1F was set to Phenotypes for gene: CACNA1F were set to Eye Disorders |