ECHS1

enoyl-CoA hydratase, short chain 1
OMIM: 602292
PanelMode of inheritanceDetails
7 panels
R-numbers: R57
Signed-off version 4.0
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 4.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
MITOCHONDRIAL SHORT-CHAIN ENOYL-CoA HYDRATASE 1 DEFICIENCY
R-numbers: R21, R412
Signed-off version 4.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Mitochondrial short-chain enoyl-CoA hydratase 1 deficiency, OMIM:616277
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 5.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Mitochondrial short-chain enoyl-CoA hydratase 1 deficiency, OMIM:616277
Component of the following Super Panels:
  • - Childhood onset leukodystrophy
Signed-off version 6.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Mitochondrial short-chain enoyl-CoA hydratase 1 deficiency, OMIM:616277
R-numbers: R63
Signed-off version 3.105
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Mitochondrial short-chain enoyl-CoA hydratase 1 deficiency, OMIM:616277
R-numbers: R316
Signed-off version 1.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
MITOCHONDRIAL SHORT-CHAIN ENOYL-CoA HYDRATASE 1 DEFICIENCY, 616277