| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Mitochondrial disease v0.434 | TIMM22 | Zornitza Stark Marked gene: TIMM22 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disease v0.434 | TIMM22 | Zornitza Stark Gene: timm22 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disease v0.215 | TIMM22 | Bryony Thompson Classified gene: TIMM22 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disease v0.215 | TIMM22 | Bryony Thompson Gene: timm22 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disease v0.214 | TIMM22 |
Bryony Thompson changed review comment from: One compound heterozygote case identified with supporting in vitro and patient cell functional assays. Sources: NHS GMS; to: One compound heterozygote case identified with supporting in vitro and patient cell functional assays. No OMIM phenotype recorded. Sources: NHS GMS |
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| Mitochondrial disease v0.214 | TIMM22 |
Bryony Thompson gene: TIMM22 was added gene: TIMM22 was added to Mitochondrial disease. Sources: NHS GMS Mode of inheritance for gene: TIMM22 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TIMM22 were set to 30452684 Phenotypes for gene: TIMM22 were set to hypotonia; gastroesophageal reflux disease Review for gene: TIMM22 was set to AMBER Added comment: One compound heterozygote case identified with supporting in vitro and patient cell functional assays. Sources: NHS GMS |
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