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Severe Paediatric Disorders v0.17 | CACNA1F | Louise Daugherty Mode of inheritance for gene CACNA1F was changed from to X-LINKED: hemizygous mutation in males, biallelic mutations in females | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.12 | CACNA1F | Louise Daugherty reviewed gene: CACNA1F: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.11 | CACNA1F | Louise Daugherty Publications for gene CACNA1F were updated from to 30847515 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.10 | CACNA1F | Louise Daugherty Added phenotypes Cone-rod dystrophy, X-linked, 3, 300476; Aland Island eye disease, 300600; Night blindness, congenital stationary (incomplete), 2A, X-linked, 300071 for gene: CACNA1F | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.9 | CACNA1F | Louise Daugherty Added phenotypes Cone-rod dystrophy, X-linked, 3, 300476; Aland Island eye disease, 300600; Night blindness, congenital stationary (incomplete), 2A, X-linked, 300071 for gene: CACNA1F | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.9 | CACNA1F | Louise Daugherty Added phenotypes Cone-rod dystrophy, X-linked, 3, 300476; Aland Island eye disease, 300600; Night blindness, congenital stationary (incomplete), 2A, X-linked, 300071 for gene: CACNA1F | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.8 | CACNA1F | Louise Daugherty Added phenotypes Night blindness, congenital stationary (incomplete), 2A, X-linked, 300071; Cone-rod dystrophy, X-linked, 3, 300476; Aland Island eye disease, 300600 for gene: CACNA1F | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.7 | CACNA1F | Louise Daugherty Source Next Generation Children Project was added to CACNA1F. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.5 | CACNA1F |
Louise Daugherty Source Expert Review Green was added to CACNA1F. Rating Changed from Red List (low evidence) to Green List (high evidence) |
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Severe Paediatric Disorders v0.4 | CACNA1F |
Louise Daugherty gene: CACNA1F was added gene: CACNA1F was added to Severe Paediatric Disorders. Sources: Expert list Mode of inheritance for gene: CACNA1F was set to |