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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