Mitochondrial disorders
Gene: ETFDH
ETFDH (electron transfer flavoprotein dehydrogenase)
EnsemblGeneIds (GRCh38): ENSG00000171503
EnsemblGeneIds (GRCh37): ENSG00000171503
OMIM: 231675, Gene2Phenotype
ETFDH is in 18 panels
EnsemblGeneIds (GRCh38): ENSG00000171503
EnsemblGeneIds (GRCh37): ENSG00000171503
OMIM: 231675, Gene2Phenotype
ETFDH is in 18 panels
2 reviews
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.
Shamima Rahman (UCL Institute of Child Health)
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Expert list
- Phenotypes
-
- Disorders of ubiquinone metabolism and biosynthesis
- GLUTARIC ACIDURIA TYPE 2C
- Glutaric acidemia IIC
- OMIM
- 231675
- Clinvar variants
- Variants in ETFDH
- Penetrance
- Complete
- Panels with this gene
-
- Undiagnosed metabolic disorders
- Inherited white matter disorders
- Hyperammonaemia
- Fetal anomalies
- Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies
- Rhabdomyolysis and metabolic muscle disorders
- Arthrogryposis
- Possible mitochondrial disorder, nuclear genes
- Likely inborn error of metabolism
- Intellectual disability
- Dystonia, chorea or related movement disorder, childhood onset
- Hereditary neuropathy
- Acute rhabdomyolysis
- DDG2P
- Mitochondrial disorders
- Paediatric or syndromic cardiomyopathy
- White matter disorders and cerebral calcification - childhood onset
- Hereditary neuropathy or pain disorder
History Filter Activity
2 Mar 2016, Gel status: 4
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
2 Mar 2016, Gel status: 4
Set Phenotypes
Ellen McDonagh (Genomics England Curator)Phenotypes for ETFDH were set to Disorders of ubiquinone metabolism and biosynthesis; GLUTARIC ACIDURIA TYPE 2C; Glutaric acidemia IIC
2 Mar 2016, Gel status: 4
Set Mode of Inheritance
Ellen McDonagh (Genomics England Curator)Mode of inheritance for ETFDH was changed to BIALLELIC, autosomal or pseudoautosomal
2 Mar 2016, Gel status: 4
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
30 Jun 2015, Gel status: 0
Added New Source
Ellen McDonagh (Genomics England Curator)ETFDH was added to All recognised syndromes and those with suggestive featurespanel. Sources: Expert list