1. Panels
  2. Hereditary ataxia
  3. SYT14

Hereditary ataxia

Gene: SYT14

Red List (low evidence)
SYT14 (synaptotagmin 14)
EnsemblGeneIds (GRCh38): ENSG00000143469
EnsemblGeneIds (GRCh37): ENSG00000143469
OMIM: 610949, Gene2Phenotype
SYT14 is in 5 panels

3 reviews

emma baple (Genomics England Curator)

Comment when marking as ready: Only a single family reported
Created: 3 Jun 2016, 12:07 p.m.
Created: 3 Jun 2016, 12:07 p.m.

Panel version: 0.67

Damian Smedley (Genomics England Curator)

Comment on list classification: Only evidence from 2 Japanese brothers, born of consanguineous parents, having the same homozygous mutation
Created: 4 Feb 2016, 2:29 p.m.
Created: 4 Feb 2016, 2:29 p.m.

Panel version: 0.26

Jonathan Williams (Oxford Medical Genetics Laboratories, Oxford University Hospitals NHS Foundation Trust)

Red List (low evidence)

Only a single family to date
Created: 24 Nov 2015, 4:57 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Spinocerebellarataxia,autosomalrecessive11,614229

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

Created: 24 Nov 2015, 4:57 p.m.

Panel version: 0

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • UKGTN
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Spinocerebellarataxia,autosomalrecessive11,614229
OMIM
610949
Clinvar variants
Variants in SYT14
Penetrance
Complete
Panels with this gene

History Filter Activity

3 Jun 2016, Gel status: 1

Gene classified by Genomics England curator

emma baple (Genomics England Curator)

This gene has been classified as Red List (Low Evidence).

3 Jun 2016, Gel status: 1

Gene classified by Genomics England curator

emma baple (Genomics England Curator)

This gene has been classified as Red List (Low Evidence).

4 Feb 2016, Gel status: 2

Gene classified by Genomics England curator

Damian Smedley (Genomics England Curator)

This gene has been classified as Amber List (Moderate Evidence).

6 Jul 2015, Gel status: 2

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Model of inheritance for gene SYT14 was changed to BIALLELIC, autosomal or pseudoautosomal

6 Jul 2015, Gel status: 2

Added New Source

Ellen McDonagh (Genomics England Curator)

SYT14 was added to Hereditary ataxiapanel. Sources: Radboud University Medical Center, Nijmegen,UKGTN

6 Jul 2015, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

SYT14 was added to Hereditary ataxiapanel. Sources: Radboud University Medical Center, Nijmegen,UKGTN