Retinal disorders
Gene: SLC6A6The 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
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: LiteratureCreated: 1 May 2020, 10:01 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Early retinal degeneration; cardiomyopathy
Publications
Tag for-review was removed from gene: SLC6A6.
Source Expert Review Green was added to SLC6A6. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Phenotypes for gene: SLC6A6 were changed from Early retinal degeneration; Dilated cardiomyopathy to Early retinal degeneration; cardiomyopathy
Phenotypes for gene: SLC6A6 were changed from Early retinal degeneration; cardiomyopathy to Early retinal degeneration; Dilated cardiomyopathy
Gene: slc6a6 has been classified as Amber List (Moderate Evidence).
Tag for-review tag was added to gene: SLC6A6.
Publications for gene: SLC6A6 were set to 31345061; 31903486; 29886034
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