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Intellectual disability

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

Caroline Wright (Sanger)

Red List (low evidence)

Rebecca Foulger (Genomics England curator)

Red List (low evidence)

Principal phenotype is ataxia. Insufficient reports of ID to include on a diagnostic panel: PMID:17304550 (2007) report a girl with DD and a translocation that disrupts the SYT14 gene.
Created: 31 Oct 2017, 9:24 a.m.

Phenotypes
psychomotor retardation

Publications

Lu Raymond (university of cambridge )

Red List (low evidence)

Details

Sources
  • Expert Review Red
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • psychomotor retardation
Tags
structural-variant
OMIM
610949
Clinvar variants
Variants in SYT14
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

29 Sep 2018, Gel status: 1

Added New Source

Louise Daugherty (Genomics England Curator)

Source Victorian Clinical Genetics Services was added to SYT14.

12 Mar 2018, Gel status: 1

Panel promoted to version 2.0

Ellen McDonagh (Genomics England Curator)

12.03.2018: Due to major updates completed (Phase 1, 2 and 3), this panel was promoted to Version 2 in order to reflect the major updates since November 2017 which have resulted in reviews for 836 genes added by Genomics England Curators and the Clinical Team, 130 new Green genes added to the interpretation pipeline (from 751 to 881 Green genes), and the gene total has increased from 1879 to 1927.

29 Nov 2017, Gel status: 1

Set publications

Ellen McDonagh (Genomics England Curator)

Publications for gene SYT14 was set to ['17304550']

13 Nov 2015, Gel status: 1

gel status update

GEL ()

The Gel status was updated for this whole panel

13 Nov 2015, Gel status: 2

gel status update

GEL ()

The Gel status was updated for this whole panel

13 Nov 2015, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

SYT14 was added to Intellectual disabilitypanel. Source: Expert Review Red

24 Jun 2015, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

SYT14 was added to Intellectual disabilitypanel. Sources: Radboud University Medical Center, Nijmegen