Possible mitochondrial disorder - nuclear genes
Gene: ETFDH

ETFDH (electron transfer flavoprotein dehydrogenase)
EnsemblGeneIds (GRCh38): ENSG00000171503
EnsemblGeneIds (GRCh37): ENSG00000171503
OMIM: 231675, Gene2Phenotype
ETFDH is in 18 panels

3 reviews

Ivone Leong (Genomics England Curator)

Green List (high evidence)

Initial gene list and info collated by Carl Fratter (Oxford University Hospitals NHS Trust) January 2019 on behalf of the GMS Mitochondrial specialist test group.
Created: 4 Feb 2019, 1:36 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Glutaric acidemia IIC, 231680

Created: 4 Feb 2019, 1:36 p.m.

Panel version: 0.5

Ellen McDonagh (Genomics England Curator)

Comment on list classification: Promoted from red to green as a green review and it is a confirmed DD gene in G2P for Glutaric aciduria type 2C.
Created: 2 Mar 2016, 11:50 a.m.

Created: 2 Mar 2016, 11:50 a.m.

Panel version: Imported from Mitochondrial disorders panel version 0.400

Shamima Rahman (UCL Institute of Child Health)

Green List (high evidence)

Created: 8 Feb 2016, 10:33 a.m.

Panel version: Imported from Mitochondrial disorders panel version 0.37

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

NHS GMS
Expert Review Green

Phenotypes

Glutaric acidemia IIC, 231680

OMIM

231675

Clinvar variants

Variants in ETFDH

Penetrance

None

Panels with this gene

History Filter Activity

4 Feb 2019, Gel status: 4

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

Ivone Leong (Genomics England Curator)

gene: ETFDH was added gene: ETFDH was added to Possible mitochondrial disorder - nuclear genes. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: ETFDH was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ETFDH were set to Glutaric acidemia IIC, 231680

Possible mitochondrial disorder - nuclear genes Gene: ETFDH