Albinism or congenital nystagmus
Gene: CACNA1FEnsemblGeneIds (GRCh38): ENSG00000102001
EnsemblGeneIds (GRCh37): ENSG00000102001
OMIM: 300110, Gene2Phenotype
CACNA1F is in 5 panels
1 review
Ivone Leong (Genomics England Curator)
Initial gene list and info collated by Jonathan Callaway (Wessex Regional Genetics Laboratory) February 2019. Suggested intial gene rating: Green; Comments provided: Comments from OMIM: Aland Island eye disease phenotype includes nystagmus and fundus hypopigmentation. Comments from HGMDpro: 107 variants listed, including numerous LOF variants. Only 2 variants have Aland island eye disease as the reported phenotype (one missense and one 425bp deletion); the majority have night-blindness as the reported phenotype. However, our local clinical expert in ophthalmology suggests including this gene due to the diagnosis of CACNA1F in several patients who pass all the phenotyping tests to exclude retinal disease.Created: 13 Feb 2019, 11:41 a.m.
Mode of inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes
Aland Island eye disease 300600 XL; Cone-rod dystrophy, X-linked, 3 300476 XLR; Night blindness, congenital stationary (incomplete), 2A, X-linked 300071 XL
Details
- Mode of Inheritance
- X-LINKED: hemizygous mutation in males, biallelic mutations in females
- Sources
-
- Expert Review Green
- Expert list
- Phenotypes
-
- Night blindness, congenital stationary (incomplete), 2A, X-linked 300071 XL
- Cone-rod dystrophy, X-linked, 3 300476 XLR
- Aland Island eye disease 300600 XL
- OMIM
- 300110
- Clinvar variants
- Variants in CACNA1F
- Penetrance
- None
- Panels with this gene
History Filter Activity
Set Phenotypes, Status Update
Ivone Leong (Genomics England Curator)Added phenotypes Night blindness, congenital stationary (incomplete), 2A, X-linked 300071 XL; Cone-rod dystrophy, X-linked, 3 300476 XLR; Aland Island eye disease 300600 XL for gene: CACNA1F Rating Changed from Green List (high evidence) to Green List (high evidence)
Entity classified by Genomics England curator
Ivone Leong (Genomics England Curator)Gene: cacna1f has been classified as Green List (High Evidence).
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Ivone Leong (Genomics England Curator)gene: CACNA1F was added gene: CACNA1F was added to Albinism or congenital nystagmus. Sources: Expert list Mode of inheritance for gene: CACNA1F was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: CACNA1F were set to Night blindness, congenital stationary (incomplete), 2A, X-linked 300071 XL; Cone-rod dystrophy, X-linked, 3 300476 XLR; Aland Island eye disease 300600 XL