1. Panels
  2. Fatty Acid Oxidation Defects
  3. ECHS1
STRs in panel
Prev Next
Regions in panel
Prev Next

Fatty Acid Oxidation Defects

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)

Assessed as Definitive by the ClinGen FAOD working group.
Sources: Expert list
Created: 29 Jul 2020, 3:44 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Mitochondrial short-chain enoyl-CoA hydratase 1 deficiency, MIM# 616277

Publications

Created: 29 Jul 2020, 3:44 a.m.

Panel version: 0.19

Details

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

History Filter Activity

29 Jul 2020, 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).

29 Jul 2020, 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).

29 Jul 2020, Gel status: 1

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: ECHS1 was added gene: ECHS1 was added to Fatty Acid Oxidation Defects. Sources: Expert list Mode of inheritance for gene: ECHS1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ECHS1 were set to 31399326; 25125611; 25393721 Phenotypes for gene: ECHS1 were set to Mitochondrial short-chain enoyl-CoA hydratase 1 deficiency, MIM# 616277 Review for gene: ECHS1 was set to GREEN