| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Genetic Epilepsy v0.1681 | GABRG1 | Alison Yeung Marked gene: GABRG1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v0.1681 | GABRG1 | Alison Yeung Gene: gabrg1 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v0.1681 | GABRG1 | Alison Yeung Classified gene: GABRG1 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v0.1681 | GABRG1 | Alison Yeung Gene: gabrg1 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v0.1680 | GABRG1 |
Anna Ritchie gene: GABRG1 was added gene: GABRG1 was added to Genetic Epilepsy. Sources: Literature Mode of inheritance for gene: GABRG1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: GABRG1 were set to PMID: 36121006 Phenotypes for gene: GABRG1 were set to developmental and epileptic encephalopathy MONDO:0100062 Review for gene: GABRG1 was set to RED Added comment: 2-year-old patient with epileptic encephalopathy, hypotonia, and global developmental delays. Clinical trio exome sequencing showed a novel, de novo missense variant in the GABRG1 gene. Sources: Literature |
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