| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Rhabdomyolysis and Metabolic Myopathy v0.175 | FASTKD2 | Bryony Thompson Marked gene: FASTKD2 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rhabdomyolysis and Metabolic Myopathy v0.175 | FASTKD2 | Bryony Thompson Gene: fastkd2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rhabdomyolysis and Metabolic Myopathy v0.175 | FASTKD2 | Bryony Thompson Classified gene: FASTKD2 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rhabdomyolysis and Metabolic Myopathy v0.175 | FASTKD2 | Bryony Thompson Gene: fastkd2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rhabdomyolysis and Metabolic Myopathy v0.168 | FASTKD2 |
Sangavi Sivagnanasundram gene: FASTKD2 was added gene: FASTKD2 was added to Rhabdomyolysis and Metabolic Myopathy. Sources: Other Mode of inheritance for gene: FASTKD2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: FASTKD2 were set to 31944455; 18771761 Phenotypes for gene: FASTKD2 were set to Combined oxidative phosphorylation deficiency 44 (MIM#618855) Review for gene: FASTKD2 was set to GREEN Added comment: - Onset in infancy or early childhood - Features typically include global developmental delay, hypotonia, and abnormal movements. 5 individuals from 4 unrelated families with features of with hypotonia, increased serum lactate and phenotypes relating to hypertrophic cardiomyopathy PMID: 31944455 Functional study using HEK293 cells showed the depletion in FASTKD2 protein resulting in defective mitochondrial RNA translation. Sources: Other |
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