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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
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