Genomics England

ETFDH

electron transfer flavoprotein dehydrogenase

Panel	Mode of inheritance	Details
Filter panels10 panels
Green in Acute rhabdomyolysis R-numbers: R419 Signed-off version 1.21	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Glutaric acidemia IIC, OMIM:231680
Green in DDG2P Component of the following Super Panels: - Paediatric disorders Signed-off version 5.48	BIALLELIC, autosomal or pseudoautosomal	Phenotypes GLUTARIC ACIDURIA TYPE 2C 231680
Green in Fetal anomalies R-numbers: R21, R412 Signed-off version 5.80	BIALLELIC, autosomal or pseudoautosomal	Phenotypes GLUTARIC ACIDURIA TYPE 2C
Green in Hereditary neuropathy or pain disorder R-numbers: R78 Signed-off version 6.163	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Glutaric acidemia IIC, OMIM:231680, multiple acyl-CoA dehydrogenase deficiency, MONDO:0009282
Green in Intellectual disability Component of the following Super Panels: - Childhood onset leukodystrophy - Hypotonic infant - Paediatric disorders R-numbers: R29 Signed-off version 8.134	BIALLELIC, autosomal or pseudoautosomal	Phenotypes GLUTARIC ACIDURIA TYPE 2C
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 7.13	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)
Green in Mitochondrial disorders Component of the following Super Panels: - Childhood onset leukodystrophy Signed-off version 8.9	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Disorders of ubiquinone metabolism and biosynthesis, GLUTARIC ACIDURIA TYPE 2C, Glutaric acidemia IIC
Green in Possible mitochondrial disorder - nuclear genes R-numbers: R63 Signed-off version 3.113	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Glutaric acidemia IIC, 231680
Green in Rhabdomyolysis and metabolic muscle disorders Component of the following Super Panels: - Hypotonic infant - Other rare neuromuscular disorders Signed-off version 5.4	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Glutaric acidemia IIC 231680
Green in White matter disorders and cerebral calcification - narrow panel Component of the following Super Panels: - Childhood onset leukodystrophy Signed-off version 6.9	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Glutaric Acidemia IIC, Mitochondrial Leukoencephalopathy