Genomics England
GMS Panels
Panels
Genes and Entities

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 3.79
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
ETHYLMALONIC ENCEPHALOPATHY 602473
Green
in Early onset or syndromic epilepsy
Component of the following Super Panels:
  • - Paediatric disorders
  • - Unexplained death in infancy and sudden unexplained death in childhood
R-numbers: R59
Signed-off version 4.134
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Ethylmalonic encephalopathy, 602473
Green
in Intellectual disability
Component of the following Super Panels:
  • - Childhood onset leukodystrophy
  • - Hypotonic infant
  • - Paediatric disorders
R-numbers: R29
Signed-off version 5.343
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Ethylmalonic encephalopathy, 602473, ETHYLMALONIC ENCEPHALOPATHY
Green
in Likely inborn error of metabolism - targeted testing not possible
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 4.78
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
Green
in Mitochondrial disorders
Component of the following Super Panels:
  • - Childhood onset leukodystrophy
Signed-off version 4.114
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Isolated complex IV deficiency, Multiple respiratory chain complex deficiencies (disorders of protein synthesis), Ethylmalonic encephalopathy, 602473, Ethylmalonic encephalopathy
Green
in Possible mitochondrial disorder - nuclear genes
R-numbers: R63
Signed-off version 3.69
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Ethylmalonic encephalopathy, 602473