Cardiomyopathy_Paediatric
Gene: ELAC2EnsemblGeneIds (GRCh38): ENSG00000006744
EnsemblGeneIds (GRCh37): ENSG00000006744
OMIM: 605367, Gene2Phenotype
ELAC2 is in 8 panels
2 reviews
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Combined oxidative phosphorylation deficiency 17, MIM# 615440
John Christodoulou (Murdoch Children's Research Institute)
5 cases from 3 unrelated families described in the first paper cited above
see OMIM 615440
Sources: LiteratureCreated: 15 Apr 2021, 5:47 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
cardiomyopathy; hypotonia; growth failure; dev delay; microcephaly; sensorineural deafness; brain MRI abnormalities
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Phenotypes
-
- Combined oxidative phosphorylation deficiency 17, MIM# 615440
- cardiomyopathy
- hypotonia
- growth failure
- dev delay
- microcephaly
- sensorineural deafness
- brain MRI abnormalities
- OMIM
- 605367
- Clinvar variants
- Variants in ELAC2
- Penetrance
- Complete
- Publications
- Panels with this gene
History Filter Activity
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: elac2 has been classified as Green List (High Evidence).
Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)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
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: elac2 has been classified as Green List (High Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes, Set penetrance
John Christodoulou (Murdoch Children's Research Institute)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