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| Dilated Cardiomyopathy v2.0 | SLC6A6 | Gene migrated from ENSG00000131389 to ENSG00000131389 (gene set migration) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Dilated Cardiomyopathy v1.64 | SLC6A6 | Lucy Spencer edited their review of gene: SLC6A6: Changed rating: AMBER | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Dilated Cardiomyopathy v1.64 | SLC6A6 |
Lucy Spencer changed review comment from: This gene was reviewed as limited by ClinGen in 2023 however PMID: 41343195 had not yet been published at that time PMID: 41343195 four families with Leber congenital amaurosis or early-onset retinal dystrophy, all have homozygous variants in SLC6A6- 2 missense, 1 in frame del, 1 nonsense. Thr249Ile, Ala294Thr, Phe404_Glu449del, Trp113Ter. in 1 family the variant segregated with disease as homozygous in 4 affected siblings and heterozygous in unaffected siblings. Some functional evidence available for the 2 missense demonstrating LOF effects. No clear cardiac phenotype was observed in these families. PMIDs: 31345061, 31903486 reported Ala78Glu and Gly399Val homozygous; to: This gene was reviewed as limited by ClinGen in 2023 however PMID: 41343195 had not yet been published at that time PMID: 41343195 four families with Leber congenital amaurosis or early-onset retinal dystrophy, all have homozygous variants in SLC6A6- 2 missense, 1 in frame del, 1 nonsense. Thr249Ile, Ala294Thr, Phe404_Glu449del, Trp113Ter. in 1 family the variant segregated with disease as homozygous in 4 affected siblings and heterozygous in unaffected siblings. Some functional evidence available for the 2 missense demonstrating LOF effects. No clear cardiac phenotype was observed in these families- still amber for the cardiac association PMIDs: 31345061, 31903486 reported Ala78Glu and Gly399Val homozygous |
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| Dilated Cardiomyopathy v1.64 | Lucy Spencer Added reviews for gene SLC6A6 from panel Mendeliome | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Dilated Cardiomyopathy v1.2 | SLC6A6 | Zornitza Stark Phenotypes for gene: SLC6A6 were changed from Early retinal degeneration; cardiomyopathy to Hypotaurinaemic retinal degeneration and cardiomyopathy (HTRDC), MIM#145350; Early retinal degeneration; cardiomyopathy | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Dilated Cardiomyopathy v1.1 | SLC6A6 | Zornitza Stark edited their review of gene: SLC6A6: Changed phenotypes: Hypotaurinaemic retinal degeneration and cardiomyopathy (HTRDC), MIM#145350, Early retinal degeneration, cardiomyopathy | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Dilated Cardiomyopathy v0.35 | SLC6A6 | Zornitza Stark Marked gene: SLC6A6 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Dilated Cardiomyopathy v0.35 | SLC6A6 | Zornitza Stark Gene: slc6a6 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Dilated Cardiomyopathy v0.35 | SLC6A6 | Zornitza Stark Classified gene: SLC6A6 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Dilated Cardiomyopathy v0.35 | SLC6A6 | Zornitza Stark Gene: slc6a6 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Dilated Cardiomyopathy v0.34 | SLC6A6 |
Zornitza Stark gene: SLC6A6 was added gene: SLC6A6 was added to Dilated Cardiomyopathy. 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 Added comment: 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 |
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