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Molecular autopsy

Gene: ETFB

Green List (high evidence)
ETFB (electron transfer flavoprotein beta subunit)
EnsemblGeneIds (GRCh38): ENSG00000105379
EnsemblGeneIds (GRCh37): ENSG00000105379
OMIM: 130410, Gene2Phenotype
ETFB is in 13 panels

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Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Glutaric acidemia IIB
  • Electron transfer flavoprotein deficiency, beta chain (Disorders of mitochondrial fatty acid oxidation)
OMIM
130410
Clinvar variants
Variants in ETFB
Penetrance
None
Publications
Panels with this gene

History Filter Activity

20 Dec 2018, Gel status: 4

Set Phenotypes

Ellen McDonagh (Genomics England Curator)

Added phenotypes Glutaric acidemia IIB; Electron transfer flavoprotein deficiency, beta chain (Disorders of mitochondrial fatty acid oxidation) for gene: ETFB

20 Dec 2018, Gel status: 4

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Ellen McDonagh (Genomics England Curator)

gene: ETFB was added gene: ETFB was added to Molecular autopsy. Sources: Expert Review Green Mode of inheritance for gene: ETFB was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ETFB were set to 27604308 Phenotypes for gene: ETFB were set to Glutaric acidemia IIB; Electron transfer flavoprotein deficiency, beta chain (Disorders of mitochondrial fatty acid oxidation)