| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Ataxia - paediatric v0.322 | PIGS | Zornitza Stark Marked gene: PIGS as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ataxia - paediatric v0.322 | PIGS | Zornitza Stark Gene: pigs has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ataxia - paediatric v0.322 | PIGS | Zornitza Stark Publications for gene: PIGS were set to PubMed: 30269814, 33410539 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ataxia - paediatric v0.317 | PIGS | Chirag Patel Classified gene: PIGS as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ataxia - paediatric v0.317 | PIGS | Chirag Patel Gene: pigs has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ataxia - paediatric v0.316 | PIGS |
Chirag Patel gene: PIGS was added gene: PIGS was added to Ataxia - paediatric. Sources: Literature Mode of inheritance for gene: PIGS was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PIGS were set to PubMed: 30269814, 33410539 Phenotypes for gene: PIGS were set to Developmental and epileptic encephalopathy 95, OMIM # 618143 Review for gene: PIGS was set to GREEN Added comment: DEE95 is a severe autosomal recessive developmental disorder characterized by severely impaired global development, hypotonia, weakness, ataxia, coarse facial features, and intractable seizures. Mutiple patients reported with biallelic variants. Some functional evidence with decreased levels of GPI-anchored proteins compared to controls. Sources: Literature |
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