DDG2P
Gene: ECHS1

ECHS1 (enoyl-CoA hydratase, short chain 1)
EnsemblGeneIds (GRCh38): ENSG00000127884
EnsemblGeneIds (GRCh37): ENSG00000127884
OMIM: 602292, Gene2Phenotype
ECHS1 is in 8 panels

1 review

Achchuthan Shanmugasundram (Genomics England Curator)

Green List (high evidence)

The DDG2P confidence category for the disease MITOCHONDRIAL SHORT-CHAIN ENOYL-CoA HYDRATASE 1 DEFICIENCY is definitive. The allelic requirement and mutation consequence are biallelic_autosomal and absent gene product (PMIDs: 25393721;29575569;26000322;35856138;25125611).
Created: 4 Oct 2023, 5:08 p.m. | Last Modified: 4 Oct 2023, 5:08 p.m.

Panel Version: 3.12

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
MITOCHONDRIAL SHORT-CHAIN ENOYL-CoA HYDRATASE 1 DEFICIENCY

Publications

Created: 4 Oct 2023, 5:08 p.m.
Last Modified: 4 Oct 2023, 5:08 p.m.
Panel version: 3.12

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

DD-Gene2Phenotype
Expert Review Green

Phenotypes

MITOCHONDRIAL SHORT-CHAIN ENOYL-CoA HYDRATASE 1 DEFICIENCY

OMIM

602292

Clinvar variants

Variants in ECHS1

Penetrance

None

Publications

Panels with this gene

History Filter Activity

4 Oct 2023, Gel status: 3

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

Achchuthan Shanmugasundram (Genomics England Curator)

gene: ECHS1 was added gene: ECHS1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: ECHS1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ECHS1 were set to 25125611; 29575569; 26000322; 35856138; 25393721 Phenotypes for gene: ECHS1 were set to MITOCHONDRIAL SHORT-CHAIN ENOYL-CoA HYDRATASE 1 DEFICIENCY

DDG2P Gene: ECHS1