Genes in panel

Hereditary ataxia - adult onset

Gene: SYT14

Red List (low evidence)

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

2 reviews

Louise Daugherty (Genomics England Curator)

I don't know

Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group.
Created: 15 Apr 2019, 10:21 a.m.

Tracy Lester (Genetics laboratory, Oxford UK)

Red List (low evidence)

Single family with a homozygous missense variant reported (also second family with a translocation disrupting gene but no known second hit). Insufficient evidence for inclusion
Created: 15 Apr 2019, 10:06 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Autosomal recessive spinocerebellar ataxia 11, 614229

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

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Wessex and West Midlands GLH
  • Expert Review Red
  • Hereditary ataxia v1.148
Phenotypes
  • Spinocerebellarataxia,autosomalrecessive11,614229
  • Autosomal recessive spinocerebellar ataxia 11, 614229
OMIM
610949
Clinvar variants
Variants in SYT14
Penetrance
None
Panels with this gene

History Filter Activity

15 Apr 2019, Gel status: 1

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Added phenotypes Autosomal recessive spinocerebellar ataxia 11, 614229 for gene: SYT14

14 Apr 2019, Gel status: 1

Added New Source

Louise Daugherty (Genomics England Curator)

Source NHS GMS was added to SYT14.

14 Apr 2019, Gel status: 1

Added New Source

Louise Daugherty (Genomics England Curator)

Source Wessex and West Midlands GLH was added to SYT14.

9 Jan 2019, Gel status: 1

Panel promoted to version 1.0

Louise Daugherty (Genomics England Curator)

Louise Daugherty: Comment on phenotypes: Implica

15 Dec 2018, Gel status: 1

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Eleanor Williams (Genomics England Curator)

gene: SYT14 was added gene: SYT14 was added to Hereditary ataxia - adult onset. Sources: Hereditary ataxia v1.148,Expert Review Red Mode of inheritance for gene: SYT14 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SYT14 were set to Spinocerebellarataxia,autosomalrecessive11,614229