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  2. Rhabdomyolysis and Metabolic Myopathy
  3. ETFDH
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Rhabdomyolysis and Metabolic Myopathy

Gene: ETFDH

Green List (high evidence)
ETFDH (electron transfer flavoprotein dehydrogenase)
EnsemblGeneIds (GRCh38): ENSG00000171503
EnsemblGeneIds (GRCh37): ENSG00000171503
OMIM: 231675, Gene2Phenotype
ETFDH is in 18 panels

1 review

Bryony Thompson (Royal Melbourne Hospital)

Green List (high evidence)

Associated with the later-onset form of the condition, where rhabdomyolysis/myopathy can be a prominent feature. >3 cases reported.
Sources: Expert list
Created: 12 Feb 2020, 3:47 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Glutaric acidemia IIC MIM#231680

Publications

Created: 12 Feb 2020, 3:47 a.m.

Panel version: Imported from Myopathy Superpanel panel version 0.20

History Filter Activity

3 Oct 2022, Gel status: 3

Added Tag

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Tag treatable tag was added to gene: ETFDH.

7 Oct 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: etfdh has been classified as Green List (High Evidence).

7 Oct 2020, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: ETFDH were set to

14 Jan 2020, Gel status: 3

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

Bryony Thompson (Royal Melbourne Hospital)

gene: ETFDH was added gene: ETFDH was added to Rhabdomyolysis_RMH. Sources: Royal Melbourne Hospital,Expert Review Green Mode of inheritance for gene: ETFDH was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ETFDH were set to Glutaric acidemia IIC 231680