Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
Brugada syndrome and cardiac sodium channel disease v2.29 | KCNH2 | Ivone Leong Phenotypes for gene: KCNH2 were changed from Brugada/Brugada like syndrome to Brugada syndrome, MONDO:0015263 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Brugada syndrome and cardiac sodium channel disease v2.7 | KCNH2 | Ivone Leong Added comment: Comment on phenotypes: KCNH2 is also associated with Long QT syndrome 2, OMIM:613688 and Short QT syndrome 1, OMIM:609620 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Brugada syndrome and cardiac sodium channel disease v2.7 | KCNH2 | Ivone Leong Phenotypes for gene: KCNH2 were changed from Brugada/Brugada like syndrome; Long QT syndrome 2 613688; Short QT syndrome 1 609620 to Brugada/Brugada like syndrome | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Brugada syndrome and cardiac sodium channel disease v1.43 | KCNH2 | James Eden reviewed gene: KCNH2: Rating: RED; Mode of pathogenicity: None; Publications: 24400717, 23874304, 16043162; Phenotypes: Long QT syndrome 2 613688, Short QT syndrome 1 609620; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Brugada syndrome and cardiac sodium channel disease v1.39 | KCNH2 | Ellen McDonagh Classified gene: KCNH2 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Brugada syndrome and cardiac sodium channel disease v1.39 | KCNH2 | Ellen McDonagh Added comment: Comment on list classification: Demoted from Green to Amber due to additional expert review from the South West GLH and ClinGen group conclusion that there is not enough evidence for this to be involved in Brugada syndrome. Final decision to be made by the NHSE GMS specialist group. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Brugada syndrome and cardiac sodium channel disease v1.39 | KCNH2 | Ellen McDonagh Gene: kcnh2 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Brugada syndrome and cardiac sodium channel disease v1.38 | KCNH2 | Rebecca Whittington commented on gene: KCNH2: Long QT syndrome 2 (OMIM 613688), Short QT syndrome 1 (OMIM 609620), {Long QT syndrome 2, acquired, susceptibility to} (OMIM 613688) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Brugada syndrome and cardiac sodium channel disease v1.37 | KCNH2 | Rebecca Whittington commented on gene: KCNH2: Overwhelming evidence for LQT. No strong evidence for Brugada. PMID:25626866. https://www.ncbi.nlm.nih.gov/pubmed/24400717. https://www.ncbi.nlm.nih.gov/pubmed/16043162 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Brugada syndrome and cardiac sodium channel disease v1.36 | KCNH2 | Rebecca Whittington reviewed gene: KCNH2: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Brugada syndrome and cardiac sodium channel disease v1.35 | KCNH2 | Louise Daugherty Classified gene: KCNH2 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Brugada syndrome and cardiac sodium channel disease v1.35 | KCNH2 | Louise Daugherty Added comment: Comment on list classification: After clinical review it was felt there was enough evidence to promote to green. The external reviewer outlines 3 cases with a Brugada / mixed Brugada and SQTS phenotype with missense variants in this gene which meets our threshold.. It is possible there is a gain of function mechanism here. Further cases will help to define the mutational spectrum and the predominant phenotype e.g. SQTS / Brugada. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Brugada syndrome and cardiac sodium channel disease v1.35 | KCNH2 | Louise Daugherty Gene: kcnh2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Brugada syndrome and cardiac sodium channel disease v1.34 | KCNH2 | Louise Daugherty Tag missense tag was added to gene: KCNH2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Brugada syndrome and cardiac sodium channel disease v1.23 | KCNH2 |
Ellen McDonagh Source South West GLH was added to KCNH2. Mode of inheritance for gene KCNH2 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Brugada syndrome and cardiac sodium channel disease v1.22 | KCNH2 | Ellen McDonagh reviewed gene: KCNH2: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Brugada syndrome, MONDO_0015263; Mode of inheritance: Disputed | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Brugada syndrome and cardiac sodium channel disease v1.14 | KCNH2 | Sarah Leigh Phenotypes for gene: KCNH2 were changed from Brugada/Brugada like syndrome to Brugada/Brugada like syndrome; Long QT syndrome 2 613688; Short QT syndrome 1 609620 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Brugada syndrome and cardiac sodium channel disease v1.13 | KCNH2 | Sarah Leigh Publications for gene: KCNH2 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Brugada syndrome and cardiac sodium channel disease v1.12 | KCNH2 | Sarah Leigh Mode of inheritance for gene: KCNH2 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Brugada syndrome and cardiac sodium channel disease v1.10 | KCNH2 | Jules Hancox reviewed gene: KCNH2: Rating: GREEN; Mode of pathogenicity: Other; Publications: PMID: 16043162, 19174314, 18692916; Phenotypes: Brugada syndrome, long QT syndrome, short QT syndrome; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted |