Incidentalome_PREGEN_DRAFT
Gene: SCN5AEnsemblGeneIds (GRCh38): ENSG00000183873
EnsemblGeneIds (GRCh37): ENSG00000183873
OMIM: 600163, Gene2Phenotype
SCN5A is in 16 panels
1 review
Tony Roscioli (New South Wales Health Pathology)
Comment on list classification: needs discussion as treatableCreated: 20 Jan 2021, 5:42 a.m. | Last Modified: 20 Jan 2021, 5:42 a.m.
Panel Version: 0.43
needs discussion as treatableCreated: 20 Jan 2021, 5:41 a.m. | Last Modified: 20 Jan 2021, 5:41 a.m.
Panel Version: 0.42
Details
- Mode of Inheritance
- Unknown
- Sources
-
- Expert Review Amber
- NSW Health Pathology
- OMIM
- 600163
- Clinvar variants
- Variants in SCN5A
- Penetrance
- None
- Panels with this gene
-
- Stroke
- Brugada syndrome
- Cardiomyopathy_Paediatric
- Incidentalome_PREGEN_DRAFT
- BabyScreen+ newborn screening
- Hydrops fetalis
- Transplant Co-Morbidity Superpanel
- Ventricular Fibrillation
- Short QT syndrome
- Long QT Syndrome
- Incidentalome
- Fetal anomalies
- Additional findings_Paediatric
- Additional findings_Adult
- Dilated Cardiomyopathy
- Sick sinus syndrome
History Filter Activity
Entity classified by Genomics England curator
Tony Roscioli (New South Wales Health Pathology)Gene: scn5a has been classified as Amber List (Moderate Evidence).
Created, Added New Source, Set mode of inheritance
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)gene: SCN5A was added gene: SCN5A was added to Incidentalome_NSW. Sources: Expert Review Green,NSW Health Pathology Mode of inheritance for gene: SCN5A was set to Unknown