Genes in panel

Ataxia and cerebellar anomalies - narrow panel

Gene: SNAP25

Amber List (moderate evidence)

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

2 reviews

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

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
  • Expert Review Amber
Phenotypes
  • ?Myasthenic syndrome, congenital, 18, OMIM:616330
  • cerebellar ataxia, MONDO:0000437
  • seizures, HP:0001250
Tags
Q2_21_rating
OMIM
600322
Clinvar variants
Variants in SNAP25
Penetrance
None
Publications
Panels with this gene

History Filter Activity

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