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  3. SNAP25
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Ataxia - paediatric

Gene: SNAP25

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

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

More than 5 unrelated individuals reported with a neurodevelopmental disorder.

Limited evidence for this being congenital myasthenic syndrome,
Created: 27 Mar 2022, 5:03 a.m. | Last Modified: 27 Mar 2022, 5:03 a.m.
Panel Version: 0.12013

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Neurodevelopmental disorder, MONDO:0700092, SNAP25-related; Myasthenic syndrome, congenital, 18, MIM# 616330

Publications

Created: 27 Mar 2022, 5:03 a.m.
Last Modified: 27 Mar 2022, 5:03 a.m.
Panel version: Imported from Mendeliome panel version 0.12013

Bryony Thompson (Royal Melbourne Hospital)

Green List (high evidence)

Phenotype in 3 reported cases and mouse model includes ataxia as a feature.
Sources: Expert list
Created: 17 Jan 2020, 12:16 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

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

Publications

Created: 17 Jan 2020, 12:16 a.m.

Panel version: 0.37

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Expert Review Green
  • Expert list
  • Victorian Clinical Genetics Services
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

17 Jan 2020, Gel status: 3

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: snap25 has been classified as Green List (High Evidence).

17 Jan 2020, Gel status: 3

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: snap25 has been classified as Green List (High Evidence).

17 Jan 2020, Gel status: 1

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

Bryony Thompson (Royal Melbourne Hospital)

gene: SNAP25 was added gene: SNAP25 was added to Ataxia - paediatric_RMH. Sources: Expert list Mode of inheritance for gene: SNAP25 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown 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