This Panel is marked as Deleted
Leukodystrophy Victorian Clinical Genetics Services
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
0 reviews
Details
- Sources
-
- Victorian Clinical Genetics Services
- Expert Review Green
- OMIM
- 231675
- Clinvar variants
- Variants in ETFDH
- Penetrance
- None
- Panels with this gene
-
- Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies
- Childhood onset dystonia, chorea or related movement disorder
- Undiagnosed metabolic disorders
- Inherited white matter disorders
- Hyperammonaemia
- Arthrogryposis
- Mitochondrial disorders
- Paediatric or syndromic cardiomyopathy
- Likely inborn error of metabolism
- Rhabdomyolysis and metabolic muscle disorders
- Intellectual disability
- Possible mitochondrial disorder - nuclear genes
- Hereditary neuropathy or pain disorder
- Fetal anomalies
- DDG2P
- White matter disorders and cerebral calcification - narrow panel
- Hereditary neuropathy
- Acute rhabdomyolysis
History Filter Activity
21 Jun 2018, Gel status: 4
Added New Source
Sarah Leigh (Genomics England Curator)ETFDH was added to Leukodystrophy Victorian Clinical Genetics Services panel. Sources: Expert Review Green,Victorian Clinical Genetics Services
21 Jun 2018, Gel status: 4
Created
Sarah Leigh (Genomics England Curator)ETFDH was created by Sarah Leigh