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| Progressive cardiac conduction disease v1.33 | GJA5 | Ivone Leong Added comment: Comment on phenotypes: This gene is also associated with Atrial fibrillation, familial, 11 614049; Atrial standstill, digenic (GJA5/SCN5A) 108770 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Progressive cardiac conduction disease v1.19 | SCN5A | Ivone Leong Added comment: Comment on phenotypes: This gene is also associated with BUNDLE BRANCH BLOCK, Lenegre-Lev disease, CARDIAC CONDUCTION DEFECT, PROGRESSIVE | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Progressive cardiac conduction disease v1.19 | SCN5A | Ivone Leong Phenotypes for gene: SCN5A were changed from BUNDLE BRANCH BLOCK; HEART BLOCK, PROGRESSIVE; Lenegre-Lev disease; Heart block, progressive, type IA; CARDIAC CONDUCTION DEFECT, PROGRESSIVE; PROGRESSIVE FAMILIAL HEART BLOCK (113900) to Heart block, progressive, OMIM:113900; Heart block, progressive, type IA, OMIM:113900 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Progressive cardiac conduction disease v1.18 | SCN5A | Ivone Leong Publications for gene: SCN5A were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Progressive cardiac conduction disease v0.30 | SCN5A | Ivone Leong reviewed gene: SCN5A: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Progressive cardiac conduction disease v0.29 | SCN5A |
Ivone Leong Source Expert Review Green was added to SCN5A. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| Progressive cardiac conduction disease v0.28 | GJA5 | James Eden reviewed gene: GJA5: Rating: RED; Mode of pathogenicity: None; Publications: 22247482; Phenotypes: Atrial fibrillation, familial, 11 614049, Atrial standstill, digenic (GJA5/SCN5A) 108770; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Progressive cardiac conduction disease v0.28 | SCN5A | James Eden reviewed gene: SCN5A: Rating: GREEN; Mode of pathogenicity: None; Publications: 11804990, 16643399, 15466643, 15372490; Phenotypes: Heart block, nonprogressive 113900, Sick sinus syndrome 1 608567; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Progressive cardiac conduction disease v0.28 | SCN5A | Matthew Edwards reviewed gene: SCN5A: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Progressive cardiac conduction disease v0.18 | GJA5 | Rebecca Whittington commented on gene: GJA5: Atrial fibrillation, familial, 11 (614049), Atrial standstill, digenic (GJA5/SCN5A) (108770) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Progressive cardiac conduction disease v0.18 | SCN5A | Rebecca Whittington commented on gene: SCN5A: Heart block, nonprogressive (113900); Heart block, progressive, type IA (OMIM 113900) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Progressive cardiac conduction disease v0.17 | SCN5A | Rebecca Whittington commented on gene: SCN5A: Pubmed: 25426816. Main gene involved in PCCD. at least 16 distinct mutations in SCN5A have been found to cause conduction alterations and block in patients and their families. The vast majority of these mutations, when functionally characterized, reduced the sodium current, thereby leading to a loss of function consistent with the slowed cardiac conduction observed in patients. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Progressive cardiac conduction disease v0.16 | SCN5A | Rebecca Whittington reviewed gene: SCN5A: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Progressive cardiac conduction disease v0.15 | SCN5A | Ellen McDonagh Source South West GLH was added to SCN5A. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Progressive cardiac conduction disease v0.14 | SCN5A | Ellen McDonagh edited their review of gene: SCN5A: Added comment: This gene was part of an initial gene list collated by Matthew Edwards Royal Brompton Hospital sent 16th Jan 2019 on behalf of the London South GLH for review by the GMS Cardiology Specialist Group. Only gene symbol from the Royal Brompton gene panel was provided - suggested initial gene rating and evidence for inclusion not provided with the list.; Changed rating: AMBER | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Progressive cardiac conduction disease v0.13 | SCN5A | Ellen McDonagh Source London South GLH was added to SCN5A. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Progressive cardiac conduction disease v0.12 | SCN5A | Ellen McDonagh Classified gene: SCN5A as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Progressive cardiac conduction disease v0.12 | SCN5A | Ellen McDonagh Added comment: Comment on list classification: Evidence (publications) required to promoted this gene to Green. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Progressive cardiac conduction disease v0.12 | SCN5A | Ellen McDonagh Gene: scn5a has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Progressive cardiac conduction disease v0.10 | SCN5A | Ellen McDonagh Classified gene: SCN5A as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Progressive cardiac conduction disease v0.10 | SCN5A | Ellen McDonagh Gene: scn5a has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Progressive cardiac conduction disease v0.9 | SCN5A | Oxford Medical Genetics Laboratory reviewed gene: SCN5A: Rating: GREEN; Mode of pathogenicity: Other - please provide details in the comments; Publications: ; Phenotypes: PROGRESSIVE FAMILIAL HEART BLOCK (113900), CARDIAC CONDUCTION DEFECT, PROGRESSIVE, BUNDLE BRANCH BLOCK, HEART BLOCK, PROGRESSIVE; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Progressive cardiac conduction disease v0.8 | SCN5A |
Ellen McDonagh Source Wessex and West Midlands GLH was added to SCN5A. Added phenotypes CARDIAC CONDUCTION DEFECT, PROGRESSIVE; HEART BLOCK, PROGRESSIVE; BUNDLE BRANCH BLOCK; PROGRESSIVE FAMILIAL HEART BLOCK (113900) for gene: SCN5A |
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| Progressive cardiac conduction disease v0.7 | SCN5A |
Anna de Burca gene: SCN5A was added gene: SCN5A was added to Progressive cardiac conduction disease. Sources: Expert list Mode of inheritance for gene: SCN5A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: SCN5A were set to Heart block, progressive, type IA; Lenegre-Lev disease Review for gene: SCN5A was set to AMBER Added comment: Sources: Expert list |
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