PanelApp
  1. Genes and Genomic Entities
  2. SLC6A6

SLC6A6

solute carrier family 6 member 6
OMIM: 186854, ClinGen, DECIPHER

5 panels

Panel Reviews Mode of inheritance Details
5 panels

Amber SLC6A6 in Dilated Cardiomyopathy


Level 2: Cardiovascular disorders
Version 1.66

Component of the following Super Panels:

  • Adult Cardiac SuperPanel
  • Cardiomyopathy_Adult_SuperPanel

    		•  2 reviews BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert Review Amber
    • Literature
    Phenotypes
    • Hypotaurinaemic retinal degeneration and cardiomyopathy (HTRDC), MIM#145350
    • Early retinal degeneration
    • cardiomyopathy

    Green SLC6A6 in Mendeliome


    Version 1.4851

    		2 reviews BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • Hypotaurinaemic retinal degeneration and cardiomyopathy MIM#145350

    Green SLC6A6 in Cone-rod Dystrophy


    Level 2: Ophthalmological disorders
    Version 0.69

    Component of the following Super Panels:

  • Retinal Disorders Superpanel

    		•  2 reviews BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Literature
    • Literature
    Phenotypes
    • Hypotaurinemic retinal degeneration and cardiomyopathy MMI#145350

    Green SLC6A6 in Aminoacidopathy


    Level 2: Metabolic disorders
    Version 1.143

    Component of the following Super Panels:

  • Metabolic Disorders Superpanel

    		•  2 reviews BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • ClinGen
    Phenotypes
    • Hypotaurinemic retinal degeneration and cardiomyopathy MMI#145350

    Red SLC6A6 in Renal Tubulopathies and related disorders


    Level 2: Renal and urinary tract disorders
    Version 1.26

    Component of the following Super Panels:

  • Kidneyome_SuperPanel

    		•  1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Red
    • Literature
    Phenotypes
    • Primary hyperoxaluria, MONDO:0002474, SLC26A6-related