SLC7A14:Ensemblv90

solute carrier family 7 member 14
OMIM: 615720, ClinGen, DECIPHER

3 panels

Panel Reviews Mode of inheritance Details
3 panels

Red SLC7A14 in Mendeliome


Version 1.3802

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Victorian Clinical Genetics Services
Phenotypes
  • Retinitis pigmentosa 68, MIM# MIM#615725
Tags
  • disputed

Red SLC7A14 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 Red
    • Royal Melbourne Hospital
    Phenotypes
    • Retinitis pigmentosa 68, 615725 (3)
    Tags
    • disputed

    Red SLC7A14 in Retinitis pigmentosa


    Level 2: Ophthalmological disorders
    Version 1.0

    1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Royal Melbourne Hospital
    • Expert Review Red
    Phenotypes
    • Retinitis pigmentosa 68, 615725 (3)
    Tags
    • disputed