Dilated and arrhythmogenic cardiomyopathy
Gene: SLC6A6

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

Created: 21 Dec 2020, 1:42 p.m.

Panel version: 1.9

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