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| Hypertrophic cardiomyopathy v1.53 | COA5 | Rebecca Whittington commented on gene: COA5: ?Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 3 (616500) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hypertrophic cardiomyopathy v1.52 | COA5 | Rebecca Whittington commented on gene: COA5: AR cardiomyopathy encephalopathy: HGMD only 1 variant: CM112438 Hypertrophic cardiomyopathy, fatal neonatal DM COA5 The A53P substitution does not exhibit a shift in polarity and displays a decrease in Kyte-Doolittle hydrophobicity from 1.8 to -1.6. Approximately 0.88% of missense mutations in HGMD are Ala-Pro. The mutation occurs 22 amino acids from the end of the protein. Huigsloot (2011) Am J Hum Genet 88: 488 PubMed: 21457908.Huigsloot (2011) Am J Hum Genet 88: 488 PubMed: 21457908. Homozygous varaints associated with neonatal cardiomyopathy. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hypertrophic cardiomyopathy v1.51 | COA5 | Rebecca Whittington reviewed gene: COA5: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hypertrophic cardiomyopathy v1.45 | COA5 |
Ellen McDonagh Source South West GLH was added to COA5. Mode of inheritance for gene COA5 was changed from to BIALLELIC, autosomal or pseudoautosomal |
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