CACNA1F

calcium voltage-gated channel subunit alpha1 F
OMIM: 300110, Gene2Phenotype

7 panels

Panel Reviews Mode of inheritance Details
7 panels

Red CACNA1F in Glaucoma (developmental)

Level 3: Anterior segment abnormalities
Level 2: Ophthalmological disorders
Version 1.42

review Not set
Sources
  • NHS GMS
  • Emory Genetics Laboratory
Phenotypes
  • Eye Disorders

Green CACNA1F in Albinism or congenital nystagmus


Version 1.23
Latest signed off version: v1.2 (3 Mar 2020)

review 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

Red CACNA1F in Autism


Version 0.22

review Not set
Sources
  • Expert Review Red
  • SFARI

Red CACNA1F in Intellectual disability

Level 3: Neurodevelopmental disorders
Level 2: Neurology and neurodevelopmental disorders
Version 3.1677
Latest signed off version: v3.2 (13 Feb 2020)

Component of the following Super Panels:

  • Hypotonic infant
  • Paediatric disorders
  • White matter disorders - childhood onset
  • review X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
    Sources
    • Victorian Clinical Genetics Services
    • Expert Review Red
    Phenotypes
    • Aland Island eye disease 300600 XL
    • Cone-rod dystrophy, X-linked, 3 300476 XLR
    • Night blindness, congenital stationary (incomplete), 2A, X-linked 300071

    Green CACNA1F in Retinal disorders

    Level 3: Posterior segment abnormalities
    Level 2: Ophthalmological disorders
    Version 2.285
    Latest signed off version: v2.195 (5 Aug 2021)

    review 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

    Red CACNA1F in Structural eye disease


    Version 1.132
    Latest signed off version: v1.3 (4 Mar 2020)

    review 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

    Green CACNA1F in Severe Paediatric Disorders


    Version 1.127

    review X-LINKED: hemizygous mutation in males, biallelic mutations in females
    Sources
    • Next Generation Children Project
    • Expert Review Green
    • Expert list
    Phenotypes
    • Cone-rod dystrophy, X-linked, 3, 300476
    • Aland Island eye disease, 300600
    • Night blindness, congenital stationary (incomplete), 2A, X-linked, 300071