Long QT syndrome

Gene: NOS1AP

Red List (low evidence)

NOS1AP (nitric oxide synthase 1 adaptor protein)
EnsemblGeneIds (GRCh38): ENSG00000198929
EnsemblGeneIds (GRCh37): ENSG00000198929
OMIM: 605551, Gene2Phenotype
NOS1AP is in 2 panels

4 reviews

Rebecca Whittington (South West GLH)

Red List (low evidence)

[QT interval, variation in] (OMIM %610741) - only association
Created: 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)

I don't know

Bill Newman (Manchester Centre for Genomic Medicine)

Red List (low evidence)

susceptibility - variation associated with QT prolongation
Created: 2 Dec 2015, 4:24 p.m.

Details

Mode of Inheritance
Unknown
Sources
  • Expert list
OMIM
605551
Clinvar variants
Variants in NOS1AP
Penetrance
Complete
Panels with this gene

History Filter Activity

21 Feb 2019, Gel status: 1

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

13 Jul 2015, Gel status: 0

Added New Source

Ellen McDonagh (Genomics England Curator)

NOS1AP was added to Long QT syndromepanel. Sources: Expert list