| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Mendeliome v0.562 | GABRB1 | Zornitza Stark Marked gene: GABRB1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.562 | GABRB1 | Zornitza Stark Gene: gabrb1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.562 | GABRB1 | Zornitza Stark Classified gene: GABRB1 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.562 | GABRB1 | Zornitza Stark Gene: gabrb1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.561 | GABRB1 |
Zornitza Stark gene: GABRB1 was added gene: GABRB1 was added to Mendeliome_VCGS. Sources: Expert list Mode of inheritance for gene: GABRB1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: GABRB1 were set to 23934111; 27273810; 31618474 Phenotypes for gene: GABRB1 were set to Epileptic encephalopathy, early infantile, 45, MIM# 617153 Review for gene: GABRB1 was set to GREEN Added comment: Three individuals reported, two as part of large epilepsy cohorts. Sources: Expert list |
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