Ataxia and cerebellar anomalies - narrow panel
Gene: SNAP25
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
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
Phenotype in 3 reported cases and mouse model includes ataxia as a feature.
Sources: Expert listCreated: 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
Tag Q2_21_rating was removed from gene: SNAP25.
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)
Gene: snap25 has been classified as Amber List (Moderate Evidence).
Tag Q2_21_rating tag was added to gene: SNAP25.
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
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