Congenital myaesthenic syndrome

Gene: SNAP25

Red List (low evidence)

SNAP25 (synaptosome associated protein 25)
EnsemblGeneIds (GRCh38): ENSG00000132639
EnsemblGeneIds (GRCh37): ENSG00000132639
OMIM: 600322, Gene2Phenotype
SNAP25 is in 7 panels

3 reviews

Louise Daugherty (Genomics England Curator)

Red List (low evidence)

Leave as Red, awaiting more information on this gene and potential disease association.
Created: 16 Oct 2019, 1:43 p.m. | Last Modified: 16 Oct 2019, 1:43 p.m.
Panel Version: 1.70
Review and rating from Michael Oldridge (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust), submitted by 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: 30 Apr 2019, 9:30 a.m.

Michael Oldridge (NHS)

Red List (low evidence)

see PanelApp - not enough evidence (can't access paper)
Created: 29 Apr 2019, 4:33 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
?Myasthenic syndrome, congenital, 18, 616330

Rebecca Foulger (Genomics England curator)

Only 1 reported case: In a girl with congenital myasthenic syndrome-18 (MIM:616330) with intellectual disability and ataxia, Shen et al. (2014, PMID:25381298) identified a de novo heterozygous c.200T-A transversion (I67N) in SNAP25. The mutation exerted a dominant-negative effect.
Created: 6 Feb 2017, 11:08 a.m.

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • NHS GMS
  • Wessex and West Midlands GLH
  • Other
  • Literature
Phenotypes
  • ?Myasthenic syndrome, congenital, 18, 616330
OMIM
600322
Clinvar variants
Variants in SNAP25
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

29 Apr 2019, Gel status: 1

Added New Source

Louise Daugherty (Genomics England Curator)

Source NHS GMS was added to SNAP25.

29 Apr 2019, Gel status: 1

Added New Source

Louise Daugherty (Genomics England Curator)

Source Wessex and West Midlands GLH was added to SNAP25.

22 Feb 2017, Gel status: 0

panel promoted to version 1

Rebecca Foulger (Genomics England curator)

22 February 2017: Reviews were assessed, and panel was revised according to expert review and additional curation.

6 Feb 2017, Gel status: 0

Set Mode of Inheritance, Added New Source

Rebecca Foulger (Genomics England curator)

SNAP25 was added to Congenital myaestheniapanel. Source: Other Model of inheritance for gene SNAP25 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

6 Feb 2017, Gel status: 0

Created

Rebecca Foulger (Genomics England curator)

SNAP25 was created by rfoulger

6 Feb 2017, Gel status: 0

Added New Source

Rebecca Foulger (Genomics England curator)

SNAP25 was added to Congenital myaestheniapanel. Sources: Literature