SLC4A7:Ensemblv90

solute carrier family 4 member 7
OMIM: 603353, ClinGen, DECIPHER

3 panels

Panel Reviews Mode of inheritance Details
3 panels

Amber SLC4A7 in Mendeliome


Version 1.3802

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Retinitis pigmentosa, MONDO:0019200, SLC4A7-related

Amber SLC4A7 in Retinitis pigmentosa


Level 2: Ophthalmological disorders
Version 0.225

Component of the following Super Panels:

  • Retinal Disorders Superpanel
  • Retinitis Pigmentosa Superpanel
  • 1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • Literature
    Phenotypes
    • Retinitis pigmentosa, MONDO:0019200, SLC4A7-related

    Amber SLC4A7 in Retinitis pigmentosa


    Level 2: Ophthalmological disorders
    Version 1.0

    1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Literature
    • Expert Review Amber
    Phenotypes
    • Retinitis pigmentosa, MONDO:0019200, SLC4A7-related