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  3. SYT14
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Ataxia - adult onset

Gene: SYT14

Red List (low evidence)
SYT14 (synaptotagmin 14)
EnsemblGeneIds (GRCh38): ENSG00000143469
EnsemblGeneIds (GRCh37): ENSG00000143469
OMIM: 610949, Gene2Phenotype
SYT14 is in 6 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Red List (low evidence)

Single family described in 2011. Another report in 2007 (PMID: 17304550) describes translocation disrupting SYT14.
Created: 29 Feb 2020, 6:27 a.m. | Last Modified: 29 Feb 2020, 6:27 a.m.
Panel Version: 0.106

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Spinocerebellar ataxia, autosomal recessive 11, MIM# 614229

Publications

Created: 29 Feb 2020, 6:27 a.m.
Last Modified: 29 Feb 2020, 6:27 a.m.
Panel version: Imported from Ataxia panel version 0.106

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Royal Melbourne Hospital
  • GeneReviews
  • Expert Review Red
  • Victorian Clinical Genetics Services
Phenotypes
  • ?Spinocerebellarataxia,autosomalrecessive11,614229
OMIM
610949
Clinvar variants
Variants in SYT14
Penetrance
None
Publications
Panels with this gene

History Filter Activity

19 Dec 2019, Gel status: 1

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

Bryony Thompson (Royal Melbourne Hospital)

gene: SYT14 was added gene: SYT14 was added to Ataxia - adult onset_RMH. Sources: Expert Review Red,GeneReviews,Royal Melbourne Hospital Mode of inheritance for gene: SYT14 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SYT14 were set to 21835308 Phenotypes for gene: SYT14 were set to ?Spinocerebellarataxia,autosomalrecessive11,614229