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Retinal disorders

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 5 panels

3 reviews

Gavin Arno (UCL Institute of Ophthalmology/Moorfields Eye Hospital)

Green List (high evidence)

Created: 30 Aug 2019, 2:12 p.m.
Last Modified: 30 Aug 2019, 2:12 p.m.
Panel version: 1.159

BRIDGE consortium (NIHRBR-RD)

Green List (high evidence)

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

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

Variants in this GENE are reported as part of current diagnostic practice

Created: 17 Jan 2017, 4:29 p.m.

Panel version: 1.14

Ellen McDonagh (Genomics England Curator)

This gene is on the Manchester Genetic Retinal Degeneration Conditions panel (covers known genes for isolated progessive retinal degeneration, Leber congenital amaurosis, macular dystrophy, achromatopsia, congenital stationary night blindness as well as the two most common causes of syndromic blindess Usher and Bardet-Biedl syndromes and additional syndromes including Joubert, Senior-Loken, and Cohen syndrome.
Created: 2 Jun 2016, 8:04 a.m.
Created: 2 Jun 2016, 8:04 a.m.

Panel version: 0.201

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 Green
Phenotypes
  • Achromatopsia, Cone, and Cone-rod Dystrophy
  • Congenital Stationary Night Blindness
  • Night blindness, congenital stationary (incomplete), 2A, X-linked, 300071Cone-rod dystropy, X-linked, 3, 300476Aland Island eye disease, 300600
OMIM
300110
Clinvar variants
Variants in CACNA1F
Penetrance
Complete
Panels with this gene

History Filter Activity

3 Apr 2019, Gel status: 3

Added New Source, Status Update

Ivone Leong (Genomics England Curator)

Source NHS GMS was added to CACNA1F. Rating Changed from Green List (high evidence) to Green List (high evidence)

21 Mar 2016, Gel status: 4

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

9 Mar 2016, Gel status: 4

Added New Source

Ellen McDonagh (Genomics England Curator)

CACNA1F was added to Posterior segment abnormalitiespanel. Sources: Expert Review Green

9 Mar 2016, Gel status: 0

Created

Ellen McDonagh (Genomics England Curator)

CACNA1F was created by ellenmcdonagh