Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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Mitochondrial disease v0.318 | QARS | Zornitza Stark Marked gene: QARS as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Mitochondrial disease v0.318 | QARS | Zornitza Stark Gene: qars has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Mitochondrial disease v0.318 | QARS | Zornitza Stark Classified gene: QARS as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Mitochondrial disease v0.318 | QARS | Zornitza Stark Gene: qars has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Mitochondrial disease v0.317 | QARS |
Zornitza Stark gene: QARS was added gene: QARS was added to Mitochondrial disease. Sources: NHS GMS Mode of inheritance for gene: QARS was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: QARS were set to 28620870; 25471517; 25432320; 25041233; 24656866; 32042906 Phenotypes for gene: QARS were set to Microcephaly, progressive, seizures, and cerebral and cerebellar atrophy, MIM# 615760 Review for gene: QARS was set to GREEN Added comment: Encodes t-RNA synthetase, over 20 individuals reported, include in mito panel in line with other t-RNA synthetases. Sources: NHS GMS |