SLC24A1:Ensemblv90

solute carrier family 24 member 1
OMIM: 603617, ClinGen, DECIPHER

6 panels

Panel Reviews Mode of inheritance Details
6 panels

Green SLC24A1 in Mendeliome


Version 1.3802

2 reviews BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Night blindness, congenital stationary (complete), 1D, autosomal recessive, MIM#613830, MONDO:0013450

Red SLC24A1 in Optic Atrophy


Level 2: Ophthalmological disorders
Version 1.65

Component of the following Super Panels:

  • Retinal Disorders Superpanel
  • 2 reviews BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • Victorian Clinical Genetics Services
    Phenotypes
    • Night blindness, congenital stationary (complete), 1D, autosomal recessive
    • 613830

    Green SLC24A1 in Congenital Stationary Night Blindness


    Level 2: Ophthalmological disorders
    Version 0.23

    Component of the following Super Panels:

  • Retinal Disorders Superpanel
  • 0 reviews BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Royal Melbourne Hospital
    Phenotypes
    • Night blindness, congenital stationary (complete), 1D, autosomal recessive, 613830

    Red SLC24A1 in Congenital nystagmus


    Level 2: Ophthalmological disorders
    Version 1.23

    1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • Royal Melbourne Hospital
    Phenotypes
    • Night blindness, congenital stationary (complete), 1D, autosomal recessive, 613830

    Green SLC24A1 in Congenital Stationary Night Blindness


    Level 2: Ophthalmological disorders
    Version 1.0

    0 reviews BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Royal Melbourne Hospital
    • Expert Review Green
    Phenotypes
    • Night blindness, congenital stationary (complete), 1D, autosomal recessive, 613830

    Red SLC24A1 in Congenital nystagmus


    Level 2: Ophthalmological disorders
    Version 2.0

    1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Royal Melbourne Hospital
    • Expert Review Red
    Phenotypes
    • Night blindness, congenital stationary (complete), 1D, autosomal recessive, 613830