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  2. Rhabdomyolysis and Metabolic Myopathy
  3. ETFB
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Rhabdomyolysis and Metabolic Myopathy

Gene: ETFB

Amber List (moderate evidence)
ETFB (electron transfer flavoprotein beta subunit)
EnsemblGeneIds (GRCh38): ENSG00000105379
EnsemblGeneIds (GRCh37): ENSG00000105379
OMIM: 130410, Gene2Phenotype
ETFB is in 15 panels

1 review

Bryony Thompson (Royal Melbourne Hospital)

I don't know

Reported in form of disease with neonatal/paediatric onset (types I, II, III), but without muscle weakness or Rhabdomyolysis
Created: 12 Feb 2020, 3:43 a.m. | Last Modified: 12 Feb 2020, 3:43 a.m.
Panel Version: 0.2

Phenotypes
Glutaric acidemia IIB MIM#231680

Publications

Created: 12 Feb 2020, 3:43 a.m.
Last Modified: 12 Feb 2020, 3:43 a.m.
Panel version: 0.2

History Filter Activity

7 Oct 2020, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: etfb has been classified as Amber List (Moderate Evidence).

7 Oct 2020, Gel status: 2

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: ETFB were set to

13 Apr 2020, Gel status: 2

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: etfb has been classified as Amber List (Moderate Evidence).

12 Feb 2020, Gel status: 1

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: etfb has been classified as Red List (Low Evidence).

14 Jan 2020, Gel status: 3

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

Bryony Thompson (Royal Melbourne Hospital)

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