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| Cardiomyopathy_Paediatric v0.78 | MRPS14 | Zornitza Stark Marked gene: MRPS14 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cardiomyopathy_Paediatric v0.78 | MRPS14 | Zornitza Stark Gene: mrps14 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cardiomyopathy_Paediatric v0.78 | MRPS14 | Zornitza Stark Phenotypes for gene: MRPS14 were changed from hypertrophic cardiomyopathy; growth retardation; hypotonia; intellectual disability to Combined oxidative phosphorylation deficiency 38, MIM# 618378; hypertrophic cardiomyopathy; growth retardation; hypotonia; intellectual disability | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cardiomyopathy_Paediatric v0.77 | MRPS14 | Zornitza Stark Classified gene: MRPS14 as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cardiomyopathy_Paediatric v0.77 | MRPS14 | Zornitza Stark Gene: mrps14 has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cardiomyopathy_Paediatric v0.76 | MRPS14 | Zornitza Stark reviewed gene: MRPS14: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Combined oxidative phosphorylation deficiency 38, MIM# 618378; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cardiomyopathy_Paediatric v0.65 | MRPS14 |
John Christodoulou gene: MRPS14 was added gene: MRPS14 was added to Cardiomyopathy_Paediatric. Sources: Literature Mode of inheritance for gene: MRPS14 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MRPS14 were set to PMID: 30358850 Phenotypes for gene: MRPS14 were set to hypertrophic cardiomyopathy; growth retardation; hypotonia; intellectual disability Penetrance for gene: MRPS14 were set to unknown Review for gene: MRPS14 was set to RED Added comment: 1 case reported in the paper above see OMIM 618378 Sources: Literature |
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