Version 0.11
|
review
|
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
|
Sources
- Expert Review Red
- ClinGen
Phenotypes
- Familial thoracic aortic aneurysm and aortic dissection
|
Version 2.8
Latest signed off version: v2.7
(1 May 2024)
Component of the following Super Panels:
Sudden unexplained death or survivors of a cardiac event
Unexplained death in infancy and sudden unexplained death in childhood
|
review
|
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
|
Sources
- Expert Review Green
- South West GLH
Phenotypes
- Sick sinus syndrome 2, OMIM:163800
|
Version 3.12
Latest signed off version: v3.11
(1 May 2024)
Component of the following Super Panels:
Cardiac arrhythmias
Sudden unexplained death or survivors of a cardiac event
Unexplained death in infancy and sudden unexplained death in childhood
|
review
|
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
|
Sources
- North West GLH
- Brugada syndrome (Version 1.7)
Phenotypes
- Sick sinus syndrome 2 (163800)
- Brugada syndrome 8 (613123)
|
Level 3: Cardiac arrhythmia
Level 2: Cardiovascular disorders
Version 3.10
Latest signed off version: v3.9
(1 May 2024)
Component of the following Super Panels:
Cardiac arrhythmias
Sudden unexplained death or survivors of a cardiac event
Unexplained death in infancy and sudden unexplained death in childhood
|
review
|
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
|
Sources
- Expert Review Red
- South West GLH
- London South GLH
- North West GLH
- Expert list
- Emory Genetics Laboratory
- Radboud University Medical Center, Nijmegen
- UKGTN
Phenotypes
- Brugada syndrome 8, OMIM:613123
|
Version 4.3
Latest signed off version: v4.0
(1 May 2024)
Component of the following Super Panels:
Unexplained death in infancy and sudden unexplained death in childhood
|
review
|
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
|
Sources
- Expert Review Amber
- NHS GMS
|