Genes in panel

Ataxia and cerebellar anomalies - narrow panel

Gene: SNAP25

No list

SNAP25 (synaptosome associated protein 25)
EnsemblGeneIds (GRCh38): ENSG00000132639
EnsemblGeneIds (GRCh37): ENSG00000132639
OMIM: 600322, Gene2Phenotype
SNAP25 is in 9 panels

1 review

Zornitza Stark (Australian Genomics)

Green List (high evidence)

Phenotype in 3 reported cases and mouse model includes ataxia as a feature.
Sources: Expert list
Created: 13 Sep 2020, 6:40 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Myasthenic syndrome, congenital, 18, 616330; cerebellar ataxia and seizures

Publications

Variants in this GENE are reported as part of current diagnostic practice

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
Phenotypes
  • Myasthenic syndrome, congenital, 18, 616330
  • cerebellar ataxia and seizures
OMIM
600322
Clinvar variants
Variants in SNAP25
Penetrance
None
Publications
Panels with this gene

History Filter Activity

13 Sep 2020, Gel status: 0

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Zornitza Stark (Australian Genomics)

gene: SNAP25 was added gene: SNAP25 was added to Ataxia and cerebellar anomalies - narrow panel. Sources: Expert list Mode of inheritance for gene: SNAP25 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: SNAP25 were set to 29491473; 25381298; 17283335 Phenotypes for gene: SNAP25 were set to Myasthenic syndrome, congenital, 18, 616330; cerebellar ataxia and seizures Review for gene: SNAP25 was set to GREEN gene: SNAP25 was marked as current diagnostic