Congenital myaesthenic syndrome
Gene: SNAP25EnsemblGeneIds (GRCh38): ENSG00000132639
EnsemblGeneIds (GRCh37): ENSG00000132639
OMIM: 600322, Gene2Phenotype
SNAP25 is in 6 panels
3 reviews
Louise Daugherty (Genomics England Curator)
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)
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
Added New Source
Louise Daugherty (Genomics England Curator)Source NHS GMS was added to SNAP25.
Added New Source
Louise Daugherty (Genomics England Curator)Source Wessex and West Midlands GLH was added to SNAP25.
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.
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
Created
Rebecca Foulger (Genomics England curator)SNAP25 was created by rfoulger
Added New Source
Rebecca Foulger (Genomics England curator)SNAP25 was added to Congenital myaestheniapanel. Sources: Literature