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Regression

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, 6:32 a.m. | Last Modified: 29 Feb 2020, 6:32 a.m.
Panel Version: 0.79

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Spinocerebellar ataxia, autosomal recessive 11, MIM# 614229

Publications

Created: 29 Feb 2020, 6:32 a.m.
Last Modified: 29 Feb 2020, 6:32 a.m.
Panel version: 0.79

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Victorian Clinical Genetics Services
Phenotypes
  • Spinocerebellar ataxia, autosomal recessive 11, MIM# 614229
OMIM
610949
Clinvar variants
Variants in SYT14
Penetrance
None
Publications
Panels with this gene

History Filter Activity

29 Feb 2020, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: syt14 has been classified as Red List (Low Evidence).

29 Feb 2020, Gel status: 1

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: SYT14 were changed from to Spinocerebellar ataxia, autosomal recessive 11, MIM# 614229

29 Feb 2020, Gel status: 1

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: SYT14 were set to

29 Feb 2020, Gel status: 1

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: SYT14 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal

29 Feb 2020, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: syt14 has been classified as Red List (Low Evidence).

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: SYT14 was added gene: SYT14 was added to Regression_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: SYT14 was set to Unknown