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Molecular autopsy

Gene: SNTA1

Green List (high evidence)
SNTA1 (syntrophin alpha 1)
EnsemblGeneIds (GRCh38): ENSG00000101400
EnsemblGeneIds (GRCh37): ENSG00000101400
OMIM: 601017, Gene2Phenotype
SNTA1 is in 2 panels

3 reviews

Ellen McDonagh (Genomics England Curator)

I don't know

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.
Created: 20 Feb 2019, 2:17 p.m.
Created: 20 Feb 2019, 2:17 p.m.

Panel version: 0.86

James Eden (Manchester)

Red List (low evidence)

Gene currently tested on Manchester cardiac gene panel. Only class 1-3 variants detected to date. 18 variants listed on HGMD (accessed 29/01/2019). ClinGen Knowledge Base: gene not curated (accessed 29/01/2019).
Created: 14 Feb 2019, 1:38 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Long QT syndrome 12 (612955)

Publications

Variants in this GENE are reported as part of current diagnostic practice

Created: 14 Feb 2019, 1:38 p.m.

Panel version: 0.82

Eleanor Williams (Genomics England Curator)

Comment on phenotypes: Adding phenotype from OMIM
Created: 16 Jan 2019, 11:55 a.m.
Created: 16 Jan 2019, 11:55 a.m.

Panel version: 0.54

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • London South GLH
  • North West GLH
  • Expert Review Green
Phenotypes
  • Long QT syndrome 12 612955
  • Long QT syndrome 12 (612955)
OMIM
601017
Clinvar variants
Variants in SNTA1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

20 Feb 2019, Gel status: 4

Added New Source

Ellen McDonagh (Genomics England Curator)

Source London South GLH was added to SNTA1.

14 Feb 2019, Gel status: 4

Added New Source, Set Phenotypes, Set publications

Ellen McDonagh (Genomics England Curator)

Source North West GLH was added to SNTA1. Added phenotypes Long QT syndrome 12 (612955) for gene: SNTA1 Publications for gene SNTA1 were changed from to 30420954; 19684871; 19862833; 16301704

16 Jan 2019, Gel status: 4

Set Phenotypes

Eleanor Williams (Genomics England Curator)

Phenotypes for gene: SNTA1 were changed from to Long QT syndrome 12 612955

20 Dec 2018, Gel status: 4

Created, Added New Source, Set mode of inheritance

Ellen McDonagh (Genomics England Curator)

gene: SNTA1 was added gene: SNTA1 was added to Molecular autopsy. Sources: Expert Review Green Mode of inheritance for gene: SNTA1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted