Dilated cardiomyopathy - adult and teen

Gene: SLC6A6

Amber List (moderate evidence)

SLC6A6 (solute carrier family 6 member 6)
EnsemblGeneIds (GRCh38): ENSG00000131389
EnsemblGeneIds (GRCh37): ENSG00000131389
OMIM: 186854, Gene2Phenotype
SLC6A6 is in 2 panels

1 review

Ivone Leong (Genomics England Curator)

I don't know

This gene is not associated with a relevant phenotype in OMIM or Gene2Phenotype.

There are 3 unrelated cases with early retinal degeneration and only 2 cases had DCM (PMID: 31903486 and 29886034). The case described in PMID: 29886034 did not report any segregation results for the affected individual with DCM. The case described in 29886034, affected individuals were treated with taurine for 2 years and the cardiomyopathy was corrected.
The mouse model (PMID: 20804595) is a KO taurine transporter showed a cardiac.
Sources: Literature
Created: 21 Dec 2020, 1:42 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Early retinal degeneration; cardiomyopathy

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Early retinal degeneration
  • cardiomyopathy
Tags
watchlist
OMIM
186854
Clinvar variants
Variants in SLC6A6
Penetrance
None
Publications
Panels with this gene

History Filter Activity

21 Dec 2020, Gel status: 2

Entity classified by Genomics England curator

Ivone Leong (Genomics England Curator)

Gene: slc6a6 has been classified as Amber List (Moderate Evidence).

21 Dec 2020, Gel status: 1

Created, Added New Source, Added Tag, Set mode of inheritance, Set publications, Set Phenotypes

Ivone Leong (Genomics England Curator)

gene: SLC6A6 was added gene: SLC6A6 was added to Dilated cardiomyopathy - adult and teen. Sources: Literature watchlist tags were added to gene: SLC6A6. Mode of inheritance for gene: SLC6A6 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SLC6A6 were set to 31345061; 31903486; 29886034; 17875433; 20804595 Phenotypes for gene: SLC6A6 were set to Early retinal degeneration; cardiomyopathy Review for gene: SLC6A6 was set to AMBER