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Mendeliome

Gene: ETFB

Green List (high 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)

Green List (high evidence)

At least 5 unrelated families/probands reported with biallelic variants.
MODERATE gene-disease validity assessment by the ClinGen Fatty Acid Oxidation Disorders GCEP. Classification - 12/16/2020
Created: 4 Apr 2022, 5:30 a.m. | Last Modified: 4 Apr 2022, 5:30 a.m.
Panel Version: 0.12536

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
multiple acyl-CoA dehydrogenase deficiency MONDO:0009282

Publications

Variants in this GENE are reported as part of current diagnostic practice

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: ETFB.

20 May 2022, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

20 May 2022, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: ETFB were changed from to multiple acyl-CoA dehydrogenase deficiency MONDO:0009282

4 Apr 2022, Gel status: 3

Set publications

Bryony Thompson (Royal Melbourne Hospital)

Publications for gene: ETFB were set to

4 Apr 2022, Gel status: 3

Set mode of inheritance

Bryony Thompson (Royal Melbourne Hospital)

Mode of inheritance for gene: ETFB was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: ETFB was added gene: ETFB was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: ETFB was set to Unknown