| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Mitochondrial disease v0.877 | GCSH | Zornitza Stark Marked gene: GCSH as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disease v0.877 | GCSH | Zornitza Stark Gene: gcsh has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disease v0.877 | GCSH | Zornitza Stark Classified gene: GCSH as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disease v0.877 | GCSH | Zornitza Stark Gene: gcsh has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disease v0.876 | GCSH |
Zornitza Stark gene: GCSH was added gene: GCSH was added to Mitochondrial disease. Sources: Expert Review Mode of inheritance for gene: GCSH was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: GCSH were set to 33890291; 36190515 Phenotypes for gene: GCSH were set to Multiple mitochondrial dysfunctions syndrome 7, MIM# 620423 Review for gene: GCSH was set to GREEN Added comment: 7 unrelated families reported. Phenotype ranges from neonatal fatal glycine encephalopathy to an attenuated phenotype of developmental delay, behavioral problems, limited epilepsy and variable movement problems. Sources: Expert Review |
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