| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Mitochondrial disease v0.331 | CHKB | Zornitza Stark Marked gene: CHKB as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disease v0.331 | CHKB | Zornitza Stark Gene: chkb has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disease v0.331 | CHKB | Zornitza Stark Classified gene: CHKB as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disease v0.331 | CHKB | Zornitza Stark Gene: chkb has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disease v0.330 | CHKB |
Zornitza Stark gene: CHKB was added gene: CHKB was added to Mitochondrial disease. Sources: Expert list Mode of inheritance for gene: CHKB was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CHKB were set to 21665002; 23692895; 24997086 Phenotypes for gene: CHKB were set to Muscular dystrophy, congenital, megaconial type, MIM# 602541; Intellectual disability; Abnormal mitochondria Review for gene: CHKB was set to GREEN Added comment: Congenital muscular dystrophy characterized by early-onset muscle wasting, intellectual disability, and enlarged mitochondria that are prevalent toward the periphery of the fibers but are sparse in the center on muscle biopsy. Sources: Expert list |
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