Cerebral Palsy
Gene: ECHS1EnsemblGeneIds (GRCh38): ENSG00000127884
EnsemblGeneIds (GRCh37): ENSG00000127884
OMIM: 602292, Gene2Phenotype
ECHS1 is in 12 panels
1 review
Danielle Ariti (University of Melbourne)
Two cases in CP cohort reported with compound heterozygous ECHS1variants.
One of the individuals presented with delayed motor skills with coordination problems, dystonia (at age 11), and spasticity in upper and lower limbs.
ECHS1 variants cause an inborn error of metabolism disorder characterised by severely delayed psychomotor development, neurodegeneration, increased lactic acid, and brain lesions in the basal ganglia. Some of these cases display paroxysmal and non-paroxysmal dystonia.
Sources: Expert listCreated: 21 Sep 2021, 5:36 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Cerebral Palsy; Mitochondrial short-chain enoyl-CoA hydratase 1 deficiency MIM# 616277
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Phenotypes
-
- Cerebral Palsy
- 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
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: echs1 has been classified as Green List (High Evidence).
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: echs1 has been classified as Green List (High Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Danielle Ariti (University of Melbourne)gene: ECHS1 was added gene: ECHS1 was added to Cerebral Palsy. Sources: Expert list Mode of inheritance for gene: ECHS1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ECHS1 were set to 33528536; 34364746; 32858208 Phenotypes for gene: ECHS1 were set to Cerebral Palsy; Mitochondrial short-chain enoyl-CoA hydratase 1 deficiency MIM# 616277 Review for gene: ECHS1 was set to GREEN