| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Genetic Epilepsy v0.1865 | GCSH | Zornitza Stark Phenotypes for gene: GCSH were changed from Glycine encephalopathy MIM#605899; neurodevelopmental disorder MONDO#0700092, GCHS-related to Multiple mitochondrial dysfunctions syndrome 7, MIM# 620423 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v0.1677 | GCSH | Ain Roesley Classified gene: GCSH as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v0.1677 | GCSH | Ain Roesley Gene: gcsh has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v0.1677 | GCSH | Ain Roesley Classified gene: GCSH as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v0.1677 | GCSH | Ain Roesley Gene: gcsh has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v0.1676 | GCSH | Ain Roesley Marked gene: GCSH as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v0.1676 | GCSH | Ain Roesley Gene: gcsh has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Genetic Epilepsy v0.1676 | GCSH |
Ain Roesley gene: GCSH was added gene: GCSH was added to Genetic Epilepsy. Sources: Literature Mode of inheritance for gene: GCSH was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: GCSH were set to 36190515 Phenotypes for gene: GCSH were set to Glycine encephalopathy MIM#605899; neurodevelopmental disorder MONDO#0700092, GCHS-related Penetrance for gene: GCSH were set to Complete Review for gene: GCSH was set to GREEN gene: GCSH was marked as current diagnostic Added comment: 6x individuals, 3x with severe fatal glycine encephalopathy and 3x attenuated phenotype of developmental delay, behavioural problems, limited epilepsy, and variable movement problems Severe fatal variants: 2x start loss and 1x missense Attenuated variants : 2x missense and 1x exon 4-5 dup Sources: Literature |
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