Aminoacidopathy
Gene: SLC6A6EnsemblGeneIds (GRCh38): ENSG00000131389
EnsemblGeneIds (GRCh37): ENSG00000131389
OMIM: 186854, Gene2Phenotype
SLC6A6 is in 5 panels
1 review
Sangavi Sivagnanasundram (Melbourne Health)
4 individuals reported with retinal degeneration while 2 (who are siblings) also reported cardiomyopathy. The proband (one of the siblings) was given oral taurine supplementation that reversed their phenotype (cardiomyopathy was reversed and the retinal degeneration was halted) (PMID: 31903486).
Classified Limited by Aminoacidopathy GCEP on 10/03/2023 - https://search.clinicalgenome.org/CCID:006199
Sources: ClinGenCreated: 18 Jul 2024, 12:53 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
hypotaurinemic retinal degeneration and cardiomyopathy MONDO:0007777
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Amber
- Phenotypes
-
- hypotaurinemic retinal degeneration and cardiomyopathy MONDO:0007777
- OMIM
- 186854
- Clinvar variants
- Variants in SLC6A6
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: slc6a6 has been classified as Amber List (Moderate Evidence).
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: slc6a6 has been classified as Amber List (Moderate Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Sangavi Sivagnanasundram (Melbourne Health)gene: SLC6A6 was added gene: SLC6A6 was added to Aminoacidopathy. Sources: ClinGen Mode of inheritance for gene: SLC6A6 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SLC6A6 were set to 31903486; 31345061 Phenotypes for gene: SLC6A6 were set to hypotaurinemic retinal degeneration and cardiomyopathy MONDO:0007777 Review for gene: SLC6A6 was set to AMBER