Hyperammonaemia
Gene: ETFA

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)

Well-established gene-disease association. Biallelic variants in this gene are more common with neonatal presentation of MADD. This condition is usually detected through newborn screening.
DEFINITIVE gene-disease validity by the ClinGen Fatty Acid Oxidation Disorders GCEP - Classification - 05/22/2018.
Created: 4 Apr 2022, 4:49 a.m. | Last Modified: 4 Apr 2022, 4:49 a.m.

Panel Version: 0.12525

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, 4:49 a.m.
Last Modified: 4 Apr 2022, 4:49 a.m.
Panel version: Imported from Mendeliome panel version 0.12525

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Green
Expert Review Green
Genomics England PanelApp

Phenotypes

Glutaric acidemia IIA 231680

Tags

treatable

OMIM

608053

Clinvar variants

Variants in ETFA

Penetrance

None

Panels with this gene

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.

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

Hyperammonaemia Gene: ETFA