Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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Early onset or syndromic epilepsy v2.560 | ASNS | Arina Puzriakova Publications for gene: ASNS were set to 24139043; 25227173; 29375865; 24139043; 27469131 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Early onset or syndromic epilepsy v2.518 | ASNS | Helen Lord reviewed gene: ASNS: Rating: GREEN; Mode of pathogenicity: None; Publications: 24139043, 27469131, 29375865, 28776279, 29279279; Phenotypes: Asparagine Synthetase deficiency; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Early onset or syndromic epilepsy v2.491 | ASNS | Sarah Leigh Tag for-review was removed from gene: ASNS. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Early onset or syndromic epilepsy v2.491 | ASNS | Sarah Leigh commented on gene: ASNS: The rating of this gene has been updated following NHS Genomic Medicine Service approval. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Early onset or syndromic epilepsy v2.490 | ASNS |
Sarah Leigh Source Expert Review Green was added to ASNS. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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Early onset or syndromic epilepsy v2.270 | ASNS | Sarah Leigh Classified gene: ASNS as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Early onset or syndromic epilepsy v2.270 | ASNS | Sarah Leigh Added comment: Comment on list classification: There is enough evidence for this gene to be rated GREEN at the next major review. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Early onset or syndromic epilepsy v2.270 | ASNS | Sarah Leigh Gene: asns has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Early onset or syndromic epilepsy v2.269 | ASNS | Sarah Leigh reviewed gene: ASNS: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Early onset or syndromic epilepsy v2.269 | ASNS | Sarah Leigh Publications for gene: ASNS were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Early onset or syndromic epilepsy v2.268 | ASNS | Sarah Leigh Phenotypes for gene: ASNS were changed from Asparagine synthetase deficiency, MIM# 615574 to Asparagine synthetase deficiency OMIM:615574 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Early onset or syndromic epilepsy v2.267 | ASNS | Sarah Leigh Tag for-review tag was added to gene: ASNS. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Early onset or syndromic epilepsy v2.0 | ASNS |
Zornitza Stark gene: ASNS was added gene: ASNS was added to Genetic epilepsy syndromes. Sources: Expert list Mode of inheritance for gene: ASNS was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ASNS were set to Asparagine synthetase deficiency, MIM# 615574 Review for gene: ASNS was set to GREEN Added comment: Encephalopathy, including seizures is a feature of this metabolic condition. Sources: Expert list |