| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Genetic Epilepsy v0.52 | ASNS | Zornitza Stark Marked gene: ASNS as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v0.52 | ASNS | Zornitza Stark Gene: asns has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v0.52 | ASNS | Zornitza Stark Phenotypes for gene: ASNS were changed from microcephaly; cerebral atrophy; drug-resistant epilepsy; axial hypotonia; progressive appendicular spasticity; abnormal myelination to Asparagine synthetase deficiency, MIM#615574; microcephaly; cerebral atrophy; drug-resistant epilepsy; axial hypotonia; progressive appendicular spasticity; abnormal myelination | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v0.51 | ASNS | Zornitza Stark Publications for gene: ASNS were set to (PMID 24139043; 25227173; 29279279; 27469131; 28776279; 29375865; 26318253) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v0.50 | ASNS | Zornitza Stark Classified gene: ASNS as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v0.50 | ASNS | Zornitza Stark Gene: asns has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v0.46 | ASNS |
Elizabeth Palmer gene: ASNS was added gene: ASNS was added to Genetic Epilepsy_AustralianGenomics_VCGS. Sources: Literature Mode of inheritance for gene: ASNS was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ASNS were set to (PMID 24139043; 25227173; 29279279; 27469131; 28776279; 29375865; 26318253) Phenotypes for gene: ASNS were set to microcephaly; cerebral atrophy; drug-resistant epilepsy; axial hypotonia; progressive appendicular spasticity; abnormal myelination Penetrance for gene: ASNS were set to Complete Mode of pathogenicity for gene: ASNS was set to Other Review for gene: ASNS was set to GREEN Added comment: Drug resistant seizures are common (12/17 reported cases) in Asparagine Synthetase deficiency. Reported variants are missense variants (homozygous or compound heterozygous) in the highly conserved asparagine synthetase domain and result in reduced enzymatic activity. Sources: Literature |
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