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Retinal disorders

Gene: SLC6A6

No list

SLC6A6 (solute carrier family 6 member 6)
EnsemblGeneIds (GRCh38): ENSG00000131389
EnsemblGeneIds (GRCh37): ENSG00000131389
OMIM: 186854, Gene2Phenotype
SLC6A6 is in 1 panel

1 review

Zornitza Stark (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: 1 May 2020, 10:01 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Early retinal degeneration; cardiomyopathy

Publications

Details

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

History Filter Activity

1 May 2020, Gel status: 0

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

Zornitza Stark (Australian Genomics)

gene: SLC6A6 was added gene: SLC6A6 was added to Retinal disorders. 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 Early retinal degeneration; cardiomyopathy Review for gene: SLC6A6 was set to AMBER