ETFDH

electron transfer flavoprotein dehydrogenase
OMIM: 231675
PanelMode of inheritanceDetails
8 panels
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 2.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
GLUTARIC ACIDURIA TYPE 2C 231680
R-numbers: R21
Signed-off version 1.92
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
GLUTARIC ACIDURIA TYPE 2C
Component of the following Super Panels:
  • - Hypotonic infant
  • - Paediatric disorders
  • - White matter disorders - childhood onset
R-numbers: R98
Signed-off version 2.3
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Secondary CoQ10 deficiency (Mitochondrial respiratory chain disorders (caused by nuclear variants only)), GLUTARIC ACIDURIA TYPE 2C, Glutaric acidemia IIC, Disorders of ubiquinone metabolism and biosynthesis, ETF-ubiquinone oxidoreductase deficiency (Disorders of mitochondrial fatty acid oxidation)
Component of the following Super Panels:
  • - Hypotonic infant
  • - Paediatric disorders
  • - White matter disorders - childhood onset
R-numbers: R29
Signed-off version 3.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
GLUTARIC ACIDURIA TYPE 2C
Component of the following Super Panels:
  • - White matter disorders - childhood onset
Signed-off version 2.4
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Disorders of ubiquinone metabolism and biosynthesis, GLUTARIC ACIDURIA TYPE 2C, Glutaric acidemia IIC
R-numbers: R63
Signed-off version 1.17
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Glutaric acidemia IIC, 231680
Component of the following Super Panels:
  • - Hypotonic infant
  • - Neuromuscular disorders
Signed-off version 1.34
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Glutaric acidemia IIC 231680
Component of the following Super Panels:
  • - White matter disorders - childhood onset
Signed-off version 1.12
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Glutaric Acidemia IIC, Mitochondrial Leukoencephalopathy