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  2. Rhabdomyolysis and Metabolic Myopathy
  3. ETFA
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Rhabdomyolysis and Metabolic Myopathy

Gene: ETFA

Green List (high evidence)
ETFA (electron transfer flavoprotein alpha subunit)
EnsemblGeneIds (GRCh38): ENSG00000140374
EnsemblGeneIds (GRCh37): ENSG00000140374
OMIM: 608053, Gene2Phenotype
ETFA is in 15 panels

1 review

Bryony Thompson (Royal Melbourne Hospital)

Green List (high evidence)

At least 3 cases with rhabdomyolysis. Appears to cause the neonatal/paediatric onset form of the condition.
Sources: Expert list
Created: 12 Feb 2020, 3:23 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Glutaric acidemia IIA MIM#231680

Publications

Created: 12 Feb 2020, 3:23 a.m.

Panel version: Imported from Myopathy Superpanel panel version 0.24

History Filter Activity

5 Oct 2022, Gel status: 3

Added Tag

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Tag treatable tag was added to gene: ETFA.

7 Oct 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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