Congenital Myasthenia
Gene: SNAP25
SNAP25 (synaptosome associated protein 25)
EnsemblGeneIds (GRCh38): ENSG00000132639
EnsemblGeneIds (GRCh37): ENSG00000132639
OMIM: 600322, Gene2Phenotype
SNAP25 is in 7 panels
EnsemblGeneIds (GRCh38): ENSG00000132639
EnsemblGeneIds (GRCh37): ENSG00000132639
OMIM: 600322, Gene2Phenotype
SNAP25 is in 7 panels
1 review
Kunal Verma (Royal Melbourne Hospital)
only one patient reportedCreated: 12 Feb 2020, 3:17 a.m. | Last Modified: 12 Feb 2020, 3:17 a.m.
Panel Version: 0.10
Phenotypes
?Myasthenic syndrome, congenital, 18 616330
Publications
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Red
- Royal Melbourne Hospital
- Phenotypes
-
- ?Myasthenic syndrome, congenital, 18, 616330
- OMIM
- 600322
- Clinvar variants
- Variants in SNAP25
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
12 Feb 2020, Gel status: 1
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: snap25 has been classified as Red List (Low Evidence).
12 Feb 2020, Gel status: 1
Set publications
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Publications for gene: SNAP25 were set to
12 Feb 2020, Gel status: 1
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: snap25 has been classified as Red List (Low Evidence).
14 Jan 2020, Gel status: 3
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Bryony Thompson (Royal Melbourne Hospital)gene: SNAP25 was added gene: SNAP25 was added to Congenital Myaesthenic Syndrome_RMH. Sources: Royal Melbourne Hospital,Expert Review Green Mode of inheritance for gene: SNAP25 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: SNAP25 were set to ?Myasthenic syndrome, congenital, 18, 616330