Hyperammonaemia
Gene: ETFDH

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)

Well-established gene-disease association. Associated with the later-onset form of the condition, where rhabdomyolysis/myopathy can be a prominent feature.
DEFINITIVE gene-disease validity assessed by ClinGen Fatty Acid Oxidation Disorders GCEP. Classification - 05/22/2018.
Created: 4 Apr 2022, 6:30 a.m. | Last Modified: 4 Apr 2022, 6:30 a.m.

Panel Version: 0.12542

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, 6:30 a.m.
Last Modified: 4 Apr 2022, 6:30 a.m.
Panel version: Imported from Mendeliome panel version 0.12542

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Green
Expert Review Green
Genomics England PanelApp

Phenotypes

Glutaric acidemia IIC 231680

Tags

treatable

OMIM

231675

Clinvar variants

Variants in ETFDH

Penetrance

None

Panels with this gene

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.

29 Jan 2021, Gel status: 3

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: ETFDH was added gene: ETFDH was added to Hyperammonaemia. Sources: Genomics England PanelApp,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

Hyperammonaemia Gene: ETFDH