Mitochondrial disease
Gene: ECHS1EnsemblGeneIds (GRCh38): ENSG00000127884
EnsemblGeneIds (GRCh37): ENSG00000127884
OMIM: 602292, Gene2Phenotype
ECHS1 is in 12 panels
1 review
Bryony Thompson (Royal Melbourne Hospital)
Classified as Definitive by ClinGen Mitochondrial Diseases VCEP. Classification - 04/09/2021Created: 14 Mar 2022, 3:35 a.m. | Last Modified: 14 Mar 2022, 3:35 a.m.
Panel Version: 0.708
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Leigh syndrome MONDO:0009723
Publications
Variants in this GENE are reported as part of current diagnostic practice
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Victorian Clinical Genetics Services
- Australian Genomics Health Alliance Mitochondrial Flagship
- Phenotypes
-
- Leigh syndrome MONDO:0009723
- OMIM
- 602292
- Clinvar variants
- Variants in ECHS1
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
Entity classified by Genomics England curator
Bryony Thompson (Royal Melbourne Hospital)Gene: echs1 has been classified as Green List (High Evidence).
Set Phenotypes
Bryony Thompson (Royal Melbourne Hospital)Phenotypes for gene: ECHS1 were changed from to Leigh syndrome MONDO:0009723
Set publications
Bryony Thompson (Royal Melbourne Hospital)Publications for gene: ECHS1 were set to
Set mode of inheritance
Bryony Thompson (Royal Melbourne Hospital)Mode of inheritance for gene: ECHS1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Created, Added New Source, Set mode of inheritance
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)gene: ECHS1 was added gene: ECHS1 was added to Mitochondrial_AGHA_VCGS. Sources: Expert Review Green,Australian Genomics Health Alliance Mitochondrial Flagship,Victorian Clinical Genetics Services Mode of inheritance for gene: ECHS1 was set to Unknown