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Cardiomyopathy_Paediatric v0.76 | ELAC2 | Zornitza Stark Marked gene: ELAC2 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Cardiomyopathy_Paediatric v0.76 | ELAC2 | Zornitza Stark Gene: elac2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Cardiomyopathy_Paediatric v0.76 | ELAC2 | Zornitza Stark Phenotypes for gene: ELAC2 were changed from cardiomyopathy; hypotonia; growth failure; dev delay; microcephaly; sensorineural deafness; brain MRI abnormalities to Combined oxidative phosphorylation deficiency 17, MIM# 615440; cardiomyopathy; hypotonia; growth failure; dev delay; microcephaly; sensorineural deafness; brain MRI abnormalities | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Cardiomyopathy_Paediatric v0.75 | ELAC2 | Zornitza Stark reviewed gene: ELAC2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Combined oxidative phosphorylation deficiency 17, MIM# 615440; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Cardiomyopathy_Paediatric v0.75 | ELAC2 | Zornitza Stark Classified gene: ELAC2 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Cardiomyopathy_Paediatric v0.75 | ELAC2 | Zornitza Stark Gene: elac2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Cardiomyopathy_Paediatric v0.65 | ELAC2 |
John Christodoulou gene: ELAC2 was added gene: ELAC2 was added to Cardiomyopathy_Paediatric. Sources: Literature Mode of inheritance for gene: ELAC2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ELAC2 were set to PMID: 23849775: PMID: 28441660 Phenotypes for gene: ELAC2 were set to cardiomyopathy; hypotonia; growth failure; dev delay; microcephaly; sensorineural deafness; brain MRI abnormalities Penetrance for gene: ELAC2 were set to Complete Review for gene: ELAC2 was set to GREEN Added comment: 5 cases from 3 unrelated families described in the first paper cited above see OMIM 615440 Sources: Literature |