Retinal disorders

Gene: SLC6A6

The rating of this gene has been updated following NHS Genomic Medicine Service approval.

Created: 8 Mar 2022, 10:06 a.m. | Last Modified: 8 Mar 2022, 10:06 a.m.

Panel Version: 2.243

Comment on list classification: New gene added by Zornitza Stark (Australian Genomics). This gene is not associated with a relevant phenotype in OMIM or Gene2Phenotype. There are 2 unrelated cases with early retinal degeneration and a mouse model that replicates the human phenotype. PMID: 29886034 did not look at the eyes of patients so therefore unsure if the affected individual with a variant in SLC6A6 has an eye phenotype.

Therefore, there is enough evidence to support a gene-disease assocation. This gene should be rated Green at the next review.

Created: 18 Dec 2020, 3:30 p.m. | Last Modified: 18 Dec 2020, 3:45 p.m.

Panel Version: 2.33

Comment on publications: PMID: 17875433 slc6a6-/- mouse develop retinal degenerative disease.

Created: 18 Dec 2020, 3:18 p.m. | Last Modified: 18 Dec 2020, 3:18 p.m.

Panel Version: 2.31

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

• 31345061
• 31903486
• 29886034