| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Cardiomyopathy_Paediatric v0.81 | MRPS22 | Zornitza Stark Marked gene: MRPS22 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cardiomyopathy_Paediatric v0.81 | MRPS22 | Zornitza Stark Gene: mrps22 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cardiomyopathy_Paediatric v0.81 | MRPS22 | Zornitza Stark Phenotypes for gene: MRPS22 were changed from hypertrophic or dilated cardiomyopathy; microcephaly; hypotonia; spastic tetraplegia; abnormal brain MRI to Combined oxidative phosphorylation deficiency 5 , MIM#611719; hypertrophic or dilated cardiomyopathy; microcephaly; hypotonia; spastic tetraplegia; abnormal brain MRI | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cardiomyopathy_Paediatric v0.80 | MRPS22 | Zornitza Stark Publications for gene: MRPS22 were set to PMID: 17873122: PMID: 28752220: PMID: 21189481 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cardiomyopathy_Paediatric v0.79 | MRPS22 | Zornitza Stark Classified gene: MRPS22 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cardiomyopathy_Paediatric v0.79 | MRPS22 | Zornitza Stark Gene: mrps22 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cardiomyopathy_Paediatric v0.78 | MRPS22 | Zornitza Stark reviewed gene: MRPS22: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Combined oxidative phosphorylation deficiency 5 , MIM#611719; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cardiomyopathy_Paediatric v0.65 | MRPS22 |
John Christodoulou gene: MRPS22 was added gene: MRPS22 was added to Cardiomyopathy_Paediatric. Sources: Literature Mode of inheritance for gene: MRPS22 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MRPS22 were set to PMID: 17873122: PMID: 28752220: PMID: 21189481 Phenotypes for gene: MRPS22 were set to hypertrophic or dilated cardiomyopathy; microcephaly; hypotonia; spastic tetraplegia; abnormal brain MRI Penetrance for gene: MRPS22 were set to Complete Review for gene: MRPS22 was set to GREEN Added comment: Three independent reports the last report suggested the patient also had a Cornelia de Lange-like phenotype see OMIM 611719 Sources: Literature |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||