Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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Mitochondrial disease v0.161 | SACS | Zornitza Stark Marked gene: SACS as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Mitochondrial disease v0.161 | SACS | Zornitza Stark Gene: sacs has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Mitochondrial disease v0.161 | SACS | Zornitza Stark Classified gene: SACS as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Mitochondrial disease v0.161 | SACS | Zornitza Stark Gene: sacs has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Mitochondrial disease v0.160 | SACS |
Zornitza Stark gene: SACS was added gene: SACS was added to Mitochondrial disease. Sources: Expert list Mode of inheritance for gene: SACS was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SACS were set to 22307627; 20876471 Phenotypes for gene: SACS were set to Spastic ataxia, Charlevoix-Saguenay type, MIM# 270550 Review for gene: SACS was set to GREEN Added comment: Progressive neurological disorder, multiple families reported, mitochondrial dysfunction. Sources: Expert list |