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Newborns main panel

Gene: SNAP25

Amber List (moderate evidence)
SNAP25 (synaptosome associated protein 25)
EnsemblGeneIds (GRCh38): ENSG00000132639
EnsemblGeneIds (GRCh37): ENSG00000132639
OMIM: 600322, Gene2Phenotype
SNAP25 is in 6 panels

1 review

Mafalda Gomes (Genomics England Curator)

The mechanism of pathogenicity is dominant-negative (DN).
Created: 1 Jun 2023, 2:40 p.m. | Last Modified: 1 Jun 2023, 2:40 p.m.
Panel Version: 0.137
PMID: 25381298 - 1 case PMID: 36379720 - 1 case
Created: 1 Jun 2023, 12:22 p.m. | Last Modified: 1 Jun 2023, 12:22 p.m.
Panel Version: 0.135
Created: 1 Jun 2023, 12:22 p.m.
Last Modified: 1 Jun 2023, 12:22 p.m.
Panel version: 0.137

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Amber
Phenotypes
  • Congenital myasthenic syndrome-18
OMIM
600322
Clinvar variants
Variants in SNAP25
Penetrance
None
Mode of Pathogenicity
Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Panels with this gene

History Filter Activity

4 Oct 2023, Gel status: 2

Added New Source, Status Update

Mafalda Gomes (Genomics England Curator)

Source Expert Review Amber was added to SNAP25. Rating Changed from Green List (high evidence) to Amber List (moderate evidence)

14 Sep 2023, Gel status: 3

Set Phenotypes

Mafalda Gomes (Genomics England Curator)

Phenotypes for gene: SNAP25 were changed from Congenital myasthenic syndrome-18; ?Congenital myasthenic syndrome-18 to Congenital myasthenic syndrome-18

14 Sep 2023, Gel status: 3

Added New Source, Set Phenotypes, Status Update

Mafalda Gomes (Genomics England Curator)

Source Expert Review Green was added to SNAP25. Added phenotypes Congenital myasthenic syndrome-18 for gene: SNAP25 Rating Changed from Amber List (moderate evidence) to Green List (high evidence)

14 Jul 2023, Gel status: 2

Set Phenotypes

Mafalda Gomes (Genomics England Curator)

Phenotypes for gene: SNAP25 were changed from ?Congenital myasthenic syndrome-18; Congenital myasthenic syndrome-18 to ?Congenital myasthenic syndrome-18

5 Jul 2023, Gel status: 2

Set Phenotypes

Mafalda Gomes (Genomics England Curator)

Added phenotypes ?Congenital myasthenic syndrome-18 for gene: SNAP25

31 May 2023, Gel status: 2

Added New Source, Set mode of pathogenicity, Set Phenotypes, Status Update

Mafalda Gomes (Genomics England Curator)

Source Expert Review Amber was added to SNAP25. Mode of pathogenicity for gene SNAP25 was changed from to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments Added phenotypes Congenital myasthenic syndrome-18 for gene: SNAP25 Rating Changed from No List (delete) to Amber List (moderate evidence)

27 Mar 2023, Gel status: 0

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

Mafalda Gomes (Genomics England Curator)

gene: SNAP25 was added gene: SNAP25 was added to Newborns main panel. Sources: Expert Review Removed Mode of inheritance for gene: SNAP25 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: SNAP25 were set to Congenital myasthenic syndrome-18