| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Genetic Epilepsy v0.2130 | PIGF | Zornitza Stark Marked gene: PIGF as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v0.2130 | PIGF | Zornitza Stark Gene: pigf has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v0.2130 | PIGF | Zornitza Stark Classified gene: PIGF as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v0.2130 | PIGF | Zornitza Stark Gene: pigf has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v0.2114 | PIGF |
Lisa Norbart gene: PIGF was added gene: PIGF was added to Genetic Epilepsy. Sources: Literature Mode of inheritance for gene: PIGF was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PIGF were set to 33386993 Phenotypes for gene: PIGF were set to Onychodystrophy, osteodystrophy, impaired intellectual development, and seizures syndrome, MIM#619356 Review for gene: PIGF was set to RED Added comment: PMID: 33386993 (2021) - The same homozygous missense mutation (p.Pro172Arg) in 2x unrelated individuals affected with DOORS syndrome (without deafness). 1/2 presented with generalised tonic-clonic seizues and 1/2 with tonic posturing. Sources: Literature |
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