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 2.0

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

Amber SLC6A6 in Mendeliome


Version 2.0

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

Amber SLC6A6 in Cone-rod Dystrophy


Level 2: Ophthalmological disorders
Version 1.0

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
  • Literature
Phenotypes
  • Hypotaurinaemic retinal degeneration and cardiomyopathy (HTRDC), MIM#145350
  • Cone-rod retinopathy
  • cardiomyopathy

Amber SLC6A6 in Aminoacidopathy


Level 2: Metabolic disorders
Version 2.0

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • ClinGen
Phenotypes
  • hypotaurinemic retinal degeneration and cardiomyopathy MONDO:0007777

Red SLC6A6 in Renal Tubulopathies and related disorders


Level 2: Renal and urinary tract disorders
Version 2.0

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