Leukodystrophy - paediatric
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
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Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Royal Melbourne Hospital
- Expert Review Green
- Phenotypes
-
- Mitochondrial Leukoencephalopathy
- Glutaric Acidemia IIC
- Tags
- OMIM
- 231675
- Clinvar variants
- Variants in ETFDH
- Penetrance
- None
- Panels with this gene
-
- Rhabdomyolysis and Metabolic Myopathy
- Mackenzie's Mission_Reproductive Carrier Screening
- Prepair 1000+
- Cardiomyopathy_Paediatric
- Hereditary Neuropathy - complex
- BabyScreen+ newborn screening
- Mitochondrial disease
- Intellectual disability syndromic and non-syndromic
- Fatty Acid Oxidation Defects
- Limb-Girdle Muscular Dystrophy and Distal Myopathy
- Leukodystrophy - paediatric
- Fetal anomalies
- Additional findings_Paediatric
- Mendeliome
- Hyperammonaemia
- Prepair 500+
- Callosome
- Vitamin metabolism disorders
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.
30 Dec 2019, Gel status: 3
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Bryony Thompson (Royal Melbourne Hospital)gene: ETFDH was added gene: ETFDH was added to Leukodystrophy - paediatric_RMH. Sources: Expert Review Green,Royal Melbourne Hospital Mode of inheritance for gene: ETFDH was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ETFDH were set to Mitochondrial Leukoencephalopathy; Glutaric Acidemia IIC