Genomics England

ECHS1

enoyl-CoA hydratase, short chain 1

Panel	Mode of inheritance	Details
Filter panels7 panels
Green in Childhood onset dystonia, chorea or related movement disorder R-numbers: R57 Signed-off version 5.4	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Mitochondrial short-chain enoyl-CoA hydratase 1 deficiency, OMIM:616277
Green in DDG2P Component of the following Super Panels: - Paediatric disorders Signed-off version 4.15	BIALLELIC, autosomal or pseudoautosomal	Phenotypes MITOCHONDRIAL SHORT-CHAIN ENOYL-CoA HYDRATASE 1 DEFICIENCY
Green in Fetal anomalies R-numbers: R21, R412 Signed-off version 4.195	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Mitochondrial short-chain enoyl-CoA hydratase 1 deficiency, OMIM:616277
Green in Likely inborn error of metabolism Component of the following Super Panels: - Childhood onset leukodystrophy - Hypotonic infant - Paediatric disorders - Unexplained death in infancy and sudden unexplained death in childhood R-numbers: R98 Signed-off version 6.14	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Mitochondrial short-chain enoyl-CoA hydratase 1 deficiency, OMIM:616277
Green in Mitochondrial disorders Component of the following Super Panels: - Childhood onset leukodystrophy Signed-off version 7.4	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Mitochondrial short-chain enoyl-CoA hydratase 1 deficiency, OMIM:616277
Green in Possible mitochondrial disorder - nuclear genes R-numbers: R63 Signed-off version 3.105	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Mitochondrial short-chain enoyl-CoA hydratase 1 deficiency, OMIM:616277
Green in Pyruvate dehydrogenase (PDH) deficiency R-numbers: R316 Signed-off version 1.2	BIALLELIC, autosomal or pseudoautosomal	Phenotypes MITOCHONDRIAL SHORT-CHAIN ENOYL-CoA HYDRATASE 1 DEFICIENCY, 616277