| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Genetic Epilepsy v0.2100 | PGM3 | Zornitza Stark Phenotypes for gene: PGM3 were changed from Idiopathic focal epilepsy to Idiopathic focal epilepsy; Immunodeficiency 23, MIM# 615816 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v0.2099 | PGM3 | Zornitza Stark Mode of inheritance for gene: PGM3 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v0.2095 | PGM3 | Elena Savva Publications for gene: PGM3 were set to 33193641 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v0.2094 | PGM3 | Lisa Norbart reviewed gene: PGM3: Rating: AMBER; Mode of pathogenicity: None; Publications: 24589341; Phenotypes: Epilepsy; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v0.1289 | PGM3 | Zornitza Stark Marked gene: PGM3 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v0.1289 | PGM3 | Zornitza Stark Gene: pgm3 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v0.1289 | PGM3 | Zornitza Stark Classified gene: PGM3 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v0.1289 | PGM3 | Zornitza Stark Gene: pgm3 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v0.1288 | PGM3 | Zornitza Stark reviewed gene: PGM3: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Epilepsy; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v0.1276 | PGM3 |
Ain Roesley gene: PGM3 was added gene: PGM3 was added to Genetic Epilepsy. Sources: Literature Mode of inheritance for gene: PGM3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: PGM3 were set to 33193641 Phenotypes for gene: PGM3 were set to Idiopathic focal epilepsy Penetrance for gene: PGM3 were set to Incomplete Review for gene: PGM3 was set to AMBER Added comment: 4x unrelated families including 2x de novo +2x inherited from unaffected parents. Hence reduced penetrance suggested 3x missense, 1x protein truncating both missense variants inherited from unaffected parents classified as VUS by ACMG guidelines no functional studies done Sources: Literature |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||