Gene Symbol:
CACNA1F
HGNC:1393
Locus Group:
protein-coding gene
Locus Type:
gene with protein product
Location:
Xp11.23
Filters:

Definitive classifications

inherited retinal dystrophy
XL
01/05/2023
Evaluated
04/21/2024
Submitted

Strong classifications

congenital stationary night blindness 2A
Submitted as: OMIM:300071
XL
10/07/2022
Evaluated
11/30/2023
Submitted
X-linked cone-rod dystrophy 3
Submitted as: OMIM:300476
XL
04/16/2021
Evaluated
11/30/2023
Submitted
Aland island eye disease
Submitted as: OMIM:300600
XL
10/07/2022
Evaluated
11/30/2023
Submitted

Supportive classifications

congenital stationary night blindness
Submitted as: Orphanet:215
AD
09/14/2021
Evaluated
09/14/2021
Submitted
cone-rod dystrophy
Submitted as: Orphanet:1872
AD
09/14/2021
Evaluated
09/14/2021
Submitted
Aland island eye disease
Submitted as: Orphanet:178333
XL
09/14/2021
Evaluated
09/14/2021
Submitted

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