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| Rhabdomyolysis and Metabolic Myopathy v0.101 | CHCHD10 | Bryony Thompson Marked gene: CHCHD10 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rhabdomyolysis and Metabolic Myopathy v0.101 | CHCHD10 | Bryony Thompson Gene: chchd10 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rhabdomyolysis and Metabolic Myopathy v0.101 | CHCHD10 | Bryony Thompson Classified gene: CHCHD10 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rhabdomyolysis and Metabolic Myopathy v0.101 | CHCHD10 | Bryony Thompson Gene: chchd10 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Rhabdomyolysis and Metabolic Myopathy v0.100 | CHCHD10 |
Bryony Thompson gene: CHCHD10 was added gene: CHCHD10 was added to Rhabdomyolysis. Sources: Literature Mode of inheritance for gene: CHCHD10 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: CHCHD10 were set to 30874923; 29112723; 25193783; 24934289 Phenotypes for gene: CHCHD10 were set to autosomal dominant mitochondrial myopathy with exercise intolerance MONDO:0014532 Mode of pathogenicity for gene: CHCHD10 was set to Other Review for gene: CHCHD10 was set to GREEN gene: CHCHD10 was marked as current diagnostic Added comment: There are 2 families reported with mitochondrial myopathy phenotype and supporting functional assays and a knock-in mouse model 1 fam - PMID: 24934289 - c.176C>T; p.Ser59Leu segregates with mitochondrial myopathy (confirmed by muscle biopsy) with either isolated or associated symptoms including ataxia, dementia and ALS-like presentation in a large French family. Functional assays demonstrated the variant induces mitochondrial fragmentation. 1 fam - PMID: 25193783 - c.43C>A, p.Arg15Ser & c.172G>C, p.Gly58Arg in cis segregates with mitochondrial myopathy in members presenting with exercise intolerance and a proximal myopathy in a large Puerto Rican family. Functional assays demonstrated the Gly58Arg variant induced mitochondrial fragmentation. 0 - PMID: 29519717 - c.286C>A, p.Pro96Thr identified homozygous in an Italian mitochondrial myopathy case. However, this is a common variant in the African/African American population in gnomAD v2.1 (MAF=0.20, 336 homozygotes) and would be classified as benign. Fxnl - PMID: 29112723 - Chchd10 knockout mice are viable, and have no gross phenotypes, no bioenergetic defects or ultrastructural mitochondrial abnormalities in the brain, heart or skeletal muscle. Cells expressing CHCHD10 S59L or R15L mutants, but not WT, had impaired mitochondrial energy metabolism. Suggested toxic gain of function mechanism of disease Animal model - PMID: 30874923 - knock-in CHCHD10 S59L/+ mouse model demonstrates mitochondrial myopathy with mtDNA instability Sources: Literature |
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