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| Short QT syndrome v1.25 | SLC4A3 | Ivone Leong Classified gene: SLC4A3 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Short QT syndrome v1.25 | SLC4A3 | Ivone Leong Added comment: Comment on list classification: Demoted from Green to Amber based on the previously submitted review. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Short QT syndrome v1.25 | SLC4A3 | Ivone Leong Gene: slc4a3 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Short QT syndrome v1.23 | SLC4A3 | Ivone Leong edited their review of gene: SLC4A3: Added comment: Submitted on behalf of the GMS Cardiology specialist group. The group has agreed that this gene should be Amber on this panel.; Changed rating: AMBER | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Short QT syndrome v1.20 | SLC4A3 | James Eden reviewed gene: SLC4A3: Rating: AMBER; Mode of pathogenicity: None; Publications: 18382206, 19862833, 30420954; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Short QT syndrome v1.20 | SLC4A3 | Ivone Leong Source West Midlands, Oxford and Wessex GLH was added to SLC4A3. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Short QT syndrome v1.13 | SLC4A3 | Ivone Leong Added comment: Comment on mode of inheritance: Changed from Unknown back to Monoallelic after discussion with Anna de Burca (Genomics England). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Short QT syndrome v1.13 | SLC4A3 | Ivone Leong Mode of inheritance for gene: SLC4A3 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Short QT syndrome v1.10 | SLC4A3 | Rebecca Whittington commented on gene: SLC4A3: No associated phenotype on OMIM | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Short QT syndrome v1.9 | SLC4A3 | Rebecca Whittington commented on gene: SLC4A3: 1 variant associated with SQT on HGMD | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Short QT syndrome v1.8 | SLC4A3 | Rebecca Whittington reviewed gene: SLC4A3: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: Unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Short QT syndrome v1.7 | SLC4A3 |
Ellen McDonagh Source South West GLH was added to SLC4A3. Mode of inheritance for gene SLC4A3 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to Unknown |
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| Short QT syndrome v1.2 | SLC4A3 | Oxford Medical Genetics Laboratory reviewed gene: SLC4A3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Short QT syndrome v0.17 | SLC4A3 | Sarah Leigh Marked gene: SLC4A3 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Short QT syndrome v0.17 | SLC4A3 | Sarah Leigh Added comment: Comment when marking as ready: Not associated with phenotype in OMIM or in Gen2Phen. One variant was identified in two unrelated families. The variant segregates with short QT in both families and an Slc4a3 knockdown in zebrafish causes increased cardiac pHi, short QTc, and reduced systolic duration, which was rescued by wildtype SLC4A3, but not by the variant (PMID: 29167417). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Short QT syndrome v0.17 | SLC4A3 | Sarah Leigh Gene: slc4a3 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Short QT syndrome v0.3 | SLC4A3 | Sarah Leigh Publications for gene: SLC4A3 were set to PMID: 29167417; 29697308 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Short QT syndrome v0.2 | SLC4A3 |
Sarah Leigh Source Expert Review Green was added to SLC4A3. Mode of inheritance for gene SLC4A3 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Rating Changed from No List (delete) to Green List (high evidence) |
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| Short QT syndrome v0.1 | SLC4A3 |
Jules Hancox gene: SLC4A3 was added gene: SLC4A3 was added to Short QT syndrome. Sources: Literature Mode of inheritance for gene: SLC4A3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: SLC4A3 were set to PMID: 29167417; 29697308 Phenotypes for gene: SLC4A3 were set to short QT; ventricular fibrillation; cardiac arrest Review for gene: SLC4A3 was set to GREEN Added comment: The Nature Communications paper reporting this association presents strong evidence for causal link to SQTS. This variant of the SQTS was found from exome sequencing. Mutation leads to altered pHi and decrease in intracellular chloride, which in turn abbreviates repolarization. The final mediator(s) of these actions remain to be elucidated. Sources: Literature |
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