SLC6A6

solute carrier family 6 member 6
OMIM: 186854, Gene2Phenotype

5 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 5 panels
Amber SLC6A6 in Dilated Cardiomyopathy Level 2: Cardiovascular disorders Version 1.33 Component of the following Super Panels: Adult Cardiac SuperPanel Cardiomyopathy_Adult_SuperPanel	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 1.1902	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 0.54 Component of the following Super Panels: Retinal Disorders Superpanel	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 1.128 Component of the following Super Panels: Metabolic Disorders Superpanel	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 1.14 Component of the following Super Panels: Kidneyome_SuperPanel	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Literature Phenotypes Primary hyperoxaluria, MONDO:0002474, SLC26A6-related