1. Panels
  2. Molecular autopsy
  3. ECHS1
Genes in panel
Prev Next
STRs in panel
Prev Next

Molecular autopsy

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 8 panels

0 reviews

Details

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

History Filter Activity

20 Dec 2018, Gel status: 4

Set Phenotypes

Ellen McDonagh (Genomics England Curator)

Added phenotypes Mitochondrial short-chain enoyl-CoA hydratase 1 deficiency for gene: ECHS1

20 Dec 2018, Gel status: 4

Set Phenotypes

Ellen McDonagh (Genomics England Curator)

Added phenotypes Mitochondrial short-chain enoyl-CoA hydratase 1 deficiency for gene: ECHS1

20 Dec 2018, Gel status: 4

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

Ellen McDonagh (Genomics England Curator)

gene: ECHS1 was added gene: ECHS1 was added to Molecular autopsy. Sources: 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