ECHS1

enoyl-CoA hydratase, short chain 1
OMIM: 602292, ClinGen, DECIPHER

11 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 11 panels
Green ECHS1 in Cerebral Palsy Level 2: Neurology and neurodevelopmental disorders Version 2.0	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Cerebral Palsy Mitochondrial short-chain enoyl-CoA hydratase 1 deficiency MIM# 616277
Green ECHS1 in Fatty Acid Oxidation Defects Level 2: Metabolic disorders Version 2.0	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Mitochondrial short-chain enoyl-CoA hydratase 1 deficiency, MIM# 616277
Green ECHS1 in Mendeliome Version 2.0	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Mitochondrial short-chain enoyl-CoA hydratase 1 deficiency, MIM# 616277 Leigh syndrome MONDO:0009723 cerebral palsy MONDO:0006497 paroxysmal dystonia MONDO:0016058
Green ECHS1 in Genetic Epilepsy Level 2: Neurology and neurodevelopmental disorders Version 2.0	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Mitochondrial short-chain enoyl-CoA hydratase 1 deficiency, MIM# 616277
Green ECHS1 in Mitochondrial disease Level 2: Metabolic disorders Version 2.0	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Mitochondrial Flagship Phenotypes Leigh syndrome MONDO:0009723
Green ECHS1 in Paroxysmal Dyskinesia Level 2: Neurology and neurodevelopmental disorders Version 1.0	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Mitochondrial short-chain enoyl-CoA hydratase 1 deficiency, MIM# 616277 paroxysmal dyskinesia (isolated or with other features of a mitochondrial disease)
Green ECHS1 in Dystonia and Chorea Level 2: Neurology and neurodevelopmental disorders Version 1.0	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Phenotypes Mitochondrial short-chain enoyl-CoA hydratase 1 deficiency, MIM# 616277
Green ECHS1 in Mackenzie's Mission_Reproductive Carrier Screening Level 2: Screening Version 1.0	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Mitochondrial short-chain enoyl-CoA hydratase 1 deficiency, 616277 (3)
Green ECHS1 in Prepair 1000+ Level 2: Screening Version 3.0	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Mitochondrial short-chain enoyl-CoA hydratase 1 deficiency, 616277 (3)
Green ECHS1 in Genomic newborn screening: BabyScreen+ Level 2: Screening Version 2.0	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Mitochondrial short-chain enoyl-CoA hydratase 1 deficiency MIM# 616277 Tags treatable metabolic
Green ECHS1 in Prepair 500+ Level 2: Screening Version 3.0	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Mitochondrial short-chain enoyl-CoA hydratase 1 deficiency MIM# 616277