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| Cardiomyopathy_Paediatric v0.83 | MIPEP | Zornitza Stark Marked gene: MIPEP as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cardiomyopathy_Paediatric v0.83 | MIPEP | Zornitza Stark Gene: mipep has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cardiomyopathy_Paediatric v0.83 | MIPEP | Zornitza Stark Phenotypes for gene: MIPEP were changed from cardiomyopathy; left ventricular noncompaction; seizures; hypotonia; dev delay; cataracts to Combined oxidative phosphorylation deficiency 31, MIM# 617228; cardiomyopathy; left ventricular noncompaction; seizures; hypotonia; dev delay; cataracts | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cardiomyopathy_Paediatric v0.82 | MIPEP | Zornitza Stark Classified gene: MIPEP as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cardiomyopathy_Paediatric v0.82 | MIPEP | Zornitza Stark Gene: mipep has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cardiomyopathy_Paediatric v0.81 | MIPEP | Zornitza Stark reviewed gene: MIPEP: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Combined oxidative phosphorylation deficiency 31, MIM# 617228; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cardiomyopathy_Paediatric v0.65 | MIPEP |
John Christodoulou gene: MIPEP was added gene: MIPEP was added to Cardiomyopathy_Paediatric. Sources: Literature Mode of inheritance for gene: MIPEP was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MIPEP were set to PMID: 27799064 Phenotypes for gene: MIPEP were set to cardiomyopathy; left ventricular noncompaction; seizures; hypotonia; dev delay; cataracts Penetrance for gene: MIPEP were set to Complete Review for gene: MIPEP was set to GREEN Added comment: 4 unrelated cases reported in one paper with functional supportive evidence see OMIM 617228 Sources: Literature |
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