Activity
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9 actions
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| Ataxia and cerebellar anomalies - narrow panel v3.30 | SNAP25 | Eleanor Williams Tag Q2_21_rating was removed from gene: SNAP25. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ataxia and cerebellar anomalies - narrow panel v3.30 | SNAP25 | Eleanor Williams reviewed gene: SNAP25: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ataxia and cerebellar anomalies - narrow panel v3.29 | SNAP25 |
Eleanor Williams 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) |
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| Ataxia and cerebellar anomalies - narrow panel v2.112 | SNAP25 | Ivone Leong Classified gene: SNAP25 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ataxia and cerebellar anomalies - narrow panel v2.112 | SNAP25 | Ivone Leong Added comment: 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. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ataxia and cerebellar anomalies - narrow panel v2.112 | SNAP25 | Ivone Leong Gene: snap25 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ataxia and cerebellar anomalies - narrow panel v2.111 | SNAP25 | Ivone Leong Tag Q2_21_rating tag was added to gene: SNAP25. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ataxia and cerebellar anomalies - narrow panel v2.111 | SNAP25 | Ivone Leong 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 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ataxia and cerebellar anomalies - narrow panel v2.12 | SNAP25 |
Zornitza Stark 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 Added comment: Phenotype in 3 reported cases and mouse model includes ataxia as a feature. Sources: Expert list |
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