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  2. Ataxia and cerebellar anomalies - narrow panel
  3. SNAP25
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Ataxia and cerebellar anomalies - narrow panel

Gene: SNAP25

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

3 reviews

Eleanor Williams (Genomics England Curator)

Green List (high evidence)

The rating of this gene has been updated to green following NHS Genomic Medicine Service approval.
Created: 5 Feb 2023, 5:18 p.m. | Last Modified: 5 Feb 2023, 5:18 p.m.
Panel Version: 3.30
Created: 5 Feb 2023, 5:18 p.m.
Last Modified: 5 Feb 2023, 5:18 p.m.
Panel version: 3.30

Ivone Leong (Genomics England Curator)

Comment on list classification: New gene added by Zornitza Stark (Australian Genomics). This gene is associated with a relevant phenotype in OMIM and Gene2Phenotype. There is enough evidence to support a gene-disease association. This gene should be rated Green at the next review.
Created: 19 Apr 2021, 11:51 a.m. | Last Modified: 19 Apr 2021, 11:51 a.m.
Panel Version: 2.112
Created: 19 Apr 2021, 11:51 a.m.
Last Modified: 19 Apr 2021, 11:51 a.m.
Panel version: 2.112

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

Created: 13 Sep 2020, 6:40 a.m.

Panel version: 2.12

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • NHS GMS
  • Expert Review Green
Phenotypes
  • ?Myasthenic syndrome, congenital, 18, OMIM:616330
  • cerebellar ataxia, MONDO:0000437
  • seizures, HP:0001250
OMIM
600322
Clinvar variants
Variants in SNAP25
Penetrance
None
Publications
Panels with this gene

History Filter Activity

5 Feb 2023, Gel status: 3

Removed Tag

Eleanor Williams (Genomics England Curator)

Tag Q2_21_rating was removed from gene: SNAP25.

5 Feb 2023, Gel status: 3

Added New Source, Added New Source, Status Update

Eleanor Williams (Genomics England Curator)

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

19 Apr 2021, Gel status: 2

Entity classified by Genomics England curator

Ivone Leong (Genomics England Curator)

Gene: snap25 has been classified as Amber List (Moderate Evidence).

19 Apr 2021, Gel status: 0

Added Tag

Ivone Leong (Genomics England Curator)

Tag Q2_21_rating tag was added to gene: SNAP25.

19 Apr 2021, Gel status: 0

Set Phenotypes

Ivone Leong (Genomics England Curator)

Phenotypes for gene: SNAP25 were changed from Myasthenic syndrome, congenital, 18, 616330; cerebellar ataxia and seizures to ?Myasthenic syndrome, congenital, 18, OMIM:616330; cerebellar ataxia, MONDO:0000437; seizures, HP:0001250

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