| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Retinitis pigmentosa_Autosomal Recessive/X-linked v0.5 | CACNA1F | Bryony Thompson Classified gene: CACNA1F as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinitis pigmentosa_Autosomal Recessive/X-linked v0.5 | CACNA1F | Bryony Thompson Gene: cacna1f has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinitis pigmentosa_Autosomal Recessive/X-linked v0.4 | CACNA1F |
Bryony Thompson gene: CACNA1F was added gene: CACNA1F was added to Autosomal Recessive/X-Linked Retinitis Pigmentosa. Sources: Expert list Mode of inheritance for gene: CACNA1F was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Publications for gene: CACNA1F were set to 26075273; 25999675 Phenotypes for gene: CACNA1F were set to X-linked retinitis pigmentosa Review for gene: CACNA1F was set to GREEN Added comment: Hemizygous variants mainly cause congenital stationary night blindness, cone-rod dystrophy, and Aland Island eye disease. At least 3 unrelated cases/families reported with RP. Sources: Expert list |
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