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  2. Dystonia - isolated/combined
  3. ECHS1
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Dystonia - isolated/combined

Gene: ECHS1

Green List (high evidence)
ECHS1 (enoyl-CoA hydratase, short chain 1)
EnsemblGeneIds (GRCh38): ENSG00000127884
EnsemblGeneIds (GRCh37): ENSG00000127884
OMIM: 602292, Gene2Phenotype
ECHS1 is in 12 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Case reports of clinical presentation with paroxysmal and non-paroxysmal dystonia.
Created: 28 Apr 2021, 9:17 a.m. | Last Modified: 28 Apr 2021, 9:17 a.m.
Panel Version: 0.33

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Mitochondrial short-chain enoyl-CoA hydratase 1 deficiency 616277; Dystonia

Publications

Created: 28 Apr 2021, 9:17 a.m.
Last Modified: 28 Apr 2021, 9:17 a.m.
Panel version: 0.33

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Mitochondrial short-chain enoyl-CoA hydratase 1 deficiency 616277
  • Dystonia
OMIM
602292
Clinvar variants
Variants in ECHS1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

28 Apr 2021, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: echs1 has been classified as Green List (High Evidence).

28 Apr 2021, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: ECHS1 were changed from Mitochondrial short-chain enoyl-coa hydratase 1 deficiency to Mitochondrial short-chain enoyl-CoA hydratase 1 deficiency 616277; Dystonia

28 Apr 2021, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: ECHS1 were set to

27 Dec 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Bryony Thompson (Royal Melbourne Hospital)

gene: ECHS1 was added gene: ECHS1 was added to Dystonia - isolated/combined_RMH. Sources: Royal Melbourne Hospital,Expert Review Green Mode of inheritance for gene: ECHS1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ECHS1 were set to Mitochondrial short-chain enoyl-coa hydratase 1 deficiency