Structural eye disease
Gene: CACNA1F

CACNA1F (calcium voltage-gated channel subunit alpha1 F)
EnsemblGeneIds (GRCh38): ENSG00000102001
EnsemblGeneIds (GRCh37): ENSG00000102001
OMIM: 300110, Gene2Phenotype
CACNA1F is in 5 panels

2 reviews

Nicola Ragge (Birmingham Women's and Children's NHS Foundation Hospital Trust)

Red List (low evidence)

retinal gene, can't find any evidence that it is associated with structural eye disease
Created: 19 Jun 2019, 3:32 p.m.

Mode of inheritance
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)

Phenotypes
Night blindness, congenital stationary (incomplete), 2A, X-linked; Cone-rod dystropy, X-linked, 3; Aland Island eye disease; 300071; 300476; 300600

Created: 19 Jun 2019, 3:32 p.m.

Panel version: 0.76

Ivone Leong (Genomics England Curator)

Red List (low evidence)

Submitted on behalf of Professor Nicola Ragge (Wessex and West Midlands GLH). retinal gene, can't find any evidence that it is associated with structural eye disease
Created: 17 Apr 2019, 3:30 p.m.

Mode of inheritance
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)

Phenotypes
Night blindness, congenital stationary (incomplete), 2A, X-linked, 300071; Cone-rod dystropy, X-linked, 3, 300476; Aland Island eye disease, 300600

Created: 17 Apr 2019, 3:30 p.m.

Panel version: 0.38

Details

Mode of Inheritance

X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)

Sources

NHS GMS
Expert Review Red

Phenotypes

Cone-rod dystropy, X-linked, 3, 300476
Aland Island eye disease, 300600
Night blindness, congenital stationary (incomplete), 2A, X-linked, 300071
Eye Disorders

OMIM

300110

Clinvar variants

Variants in CACNA1F

Penetrance

None

Panels with this gene

History Filter Activity

17 Apr 2019, Gel status: 1

Added New Source, Set mode of inheritance, Set Phenotypes

Ivone Leong (Genomics England Curator)

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

3 Jan 2019, Gel status: 1

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

Ellen McDonagh (Genomics England Curator)

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

Structural eye disease Gene: CACNA1F