Long QT syndrome
Gene: NOS1APEnsemblGeneIds (GRCh38): ENSG00000198929
EnsemblGeneIds (GRCh37): ENSG00000198929
OMIM: 605551, Gene2Phenotype
NOS1AP is in 4 panels
4 reviews
Rebecca Whittington (South West GLH)
[QT interval, variation in] (OMIM %610741) - only associationCreated: 25 Mar 2019, 4:30 p.m.
Not enough evidence for this gene. PMID:26132555. PMID: 20538168.Created: 25 Mar 2019, 4:27 p.m.
Mode of inheritance
Unknown
Variants in this GENE are reported as part of current diagnostic practice
Ellen McDonagh (Genomics England Curator)
Not on the Inherited Cardiac Condition Genes panel for reported in: Development of a Comprehensive Sequencing Assay for Inherited Cardiac Condition Genes, Pua et al, Journal of Cardiovascular Translational Research, online Feb 2016 (doi:10.1007/s12265-016-9673-5). The panel contains disease-causing, putatively pathogenic, research and phenocopy genes.Created: 19 Feb 2016, 11:07 a.m.
Oxford Medical Genetics Laboratory (OUH NHS Foundation Trust)
Bill Newman (Manchester Centre for Genomic Medicine)
susceptibility - variation associated with QT prolongationCreated: 2 Dec 2015, 4:24 p.m.
Details
- Mode of Inheritance
- Unknown
- Sources
-
- South West GLH
- Expert list
- OMIM
- 605551
- Clinvar variants
- Variants in NOS1AP
- Penetrance
- Complete
- Panels with this gene
History Filter Activity
Added New Source, Set mode of inheritance
Ellen McDonagh (Genomics England Curator)Source South West GLH was added to NOS1AP. Mode of inheritance for gene NOS1AP was changed from to Unknown
Added New Source
Ellen McDonagh (Genomics England Curator)NOS1AP was added to Long QT syndromepanel. Sources: Expert list