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  2. Retinitis pigmentosa_Autosomal Recessive/X-linked
  3. CACNA1F
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Retinitis pigmentosa_Autosomal Recessive/X-linked

Gene: CACNA1F

Green List (high evidence)
CACNA1F (calcium voltage-gated channel subunit alpha1 F)
EnsemblGeneIds (GRCh38): ENSG00000102001
EnsemblGeneIds (GRCh37): ENSG00000102001
OMIM: 300110, Gene2Phenotype
CACNA1F is in 7 panels

1 review

Bryony Thompson (Royal Melbourne Hospital)

Green List (high evidence)

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
Created: 7 Feb 2020, 9:08 a.m.

Mode of inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females

Phenotypes
X-linked retinitis pigmentosa

Publications

Created: 7 Feb 2020, 9:08 a.m.

Panel version: 0.4

Details

Mode of Inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • X-linked retinitis pigmentosa
OMIM
300110
Clinvar variants
Variants in CACNA1F
Penetrance
None
Publications
Panels with this gene

History Filter Activity

7 Feb 2020, Gel status: 3

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: cacna1f has been classified as Green List (High Evidence).

7 Feb 2020, Gel status: 1

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Bryony Thompson (Royal Melbourne Hospital)

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