| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Genetic Epilepsy v0.16 | EXT2 | Zornitza Stark Marked gene: EXT2 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v0.16 | EXT2 | Zornitza Stark Gene: ext2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v0.16 | EXT2 | Zornitza Stark Classified gene: EXT2 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v0.16 | EXT2 | Zornitza Stark Gene: ext2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v0.15 | EXT2 |
Zornitza Stark gene: EXT2 was added gene: EXT2 was added to Genetic Epilepsy_AustralianGenomics_VCGS. Sources: Expert Review Mode of inheritance for gene: EXT2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: EXT2 were set to Seizures, scoliosis, and macrocephaly syndrome, MIM#616682 Review for gene: EXT2 was set to GREEN Added comment: Bi-alllelic missense variants cause a syndromic ID condition, seizures are a prominent feature. Note heterozygous variants (mostly causing premature termination) cause multiple exostoses. Sources: Expert Review |
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