ETHE1

ETHE1, persulfide dioxygenase
OMIM: 608451
PanelMode of inheritanceDetails
6 panels
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 4.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
ETHYLMALONIC ENCEPHALOPATHY 602473
Component of the following Super Panels:
  • - Paediatric disorders
  • - Unexplained death in infancy and sudden unexplained death in childhood
R-numbers: R59
Signed-off version 5.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Ethylmalonic encephalopathy, 602473
Component of the following Super Panels:
  • - Childhood onset leukodystrophy
  • - Hypotonic infant
  • - Paediatric disorders
R-numbers: R29
Signed-off version 6.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Ethylmalonic encephalopathy, 602473, ETHYLMALONIC ENCEPHALOPATHY
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
Ethylmalonic encephalopathy, 602473, Multiple respiratory chain complex deficiencies (disorders of protein synthesis), Isolated complex IV deficiency, Complex IV (Mitochondrial respiratory chain disorders (caused by nuclear variants only), OXPHOS assembly factors), Ethylmalonic encephalopathy
Component of the following Super Panels:
  • - Childhood onset leukodystrophy
Signed-off version 6.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Isolated complex IV deficiency, Multiple respiratory chain complex deficiencies (disorders of protein synthesis), Ethylmalonic encephalopathy, 602473, Ethylmalonic encephalopathy
R-numbers: R63
Signed-off version 3.105
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Ethylmalonic encephalopathy, 602473