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Hyperammonaemia

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

Created: 4 Apr 2022, 5:30 a.m.
Last Modified: 4 Apr 2022, 5:30 a.m.
Panel version: Imported from Mendeliome panel version 0.12536

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.

29 Jan 2021, Gel status: 3

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: ETFB was added gene: ETFB was added to Hyperammonaemia. Sources: Genomics England PanelApp,Expert Review Green Mode of inheritance for gene: ETFB was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ETFB were set to 27081516 Phenotypes for gene: ETFB were set to Glutaric acidemia IIB 231680