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  3. SLC6A6
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Cone-rod Dystrophy

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 5 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

I don't know

Different homozygous missense variants in 2 unrelated consanguineous families with early retinal degeneration, some functional studies. Patients in one of the families also had cardiomyopathy. (PMIDs: 31345061, 31903486) One dilated cardiomyopathy patient with a homozygous deletion at a splice site (PMID: 29886034).
Sources: Literature
Created: 20 Apr 2020, 11:10 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Hypotaurinaemic retinal degeneration and cardiomyopathy (HTRDC), MIM#145350; Early retinal degeneration; cardiomyopathy

Publications

Created: 20 Apr 2020, 11:10 a.m.

Panel version: 0.22

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
  • Literature
Phenotypes
  • Hypotaurinaemic retinal degeneration and cardiomyopathy (HTRDC), MIM#145350
  • Cone-rod retinopathy
  • cardiomyopathy
OMIM
186854
Clinvar variants
Variants in SLC6A6
Penetrance
None
Publications
Panels with this gene

History Filter Activity

26 May 2021, Gel status: 2

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: SLC6A6 were changed from Cone-rod retinopathy; cardiomyopathy to Hypotaurinaemic retinal degeneration and cardiomyopathy (HTRDC), MIM#145350; Cone-rod retinopathy; cardiomyopathy

22 May 2020, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

22 May 2020, Gel status: 2

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

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

22 May 2020, Gel status: 1

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

Bryony Thompson (Royal Melbourne Hospital)

gene: SLC6A6 was added gene: SLC6A6 was added to Cone-rod Dystrophy. Sources: Literature Mode of inheritance for gene: SLC6A6 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SLC6A6 were set to 31345061; 31903486; 29886034 Phenotypes for gene: SLC6A6 were set to Cone-rod retinopathy; cardiomyopathy