Hereditary Neuropathy - complex
Gene: ETFDHEnsemblGeneIds (GRCh38): ENSG00000171503
EnsemblGeneIds (GRCh37): ENSG00000171503
OMIM: 231675, Gene2Phenotype
ETFDH is in 18 panels
1 review
Bryony Thompson (Royal Melbourne Hospital)
Sensory neuropathy can be a feature of the condition. >10 cases with biallelic variants has been reported with sensory neuropathy confirmed with nerve conduction studies.
Sources: LiteratureCreated: 27 Apr 2022, 11:45 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Multiple acyl-CoA dehydrogenase deficiency MONDO:0009282; sensory neuropathy
Publications
Variants in this GENE are reported as part of current diagnostic practice
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Literature
- Phenotypes
-
- Multiple acyl-CoA dehydrogenase deficiency MONDO:0009282
- sensory neuropathy
- Tags
- OMIM
- 231675
- Clinvar variants
- Variants in ETFDH
- Penetrance
- None
- Publications
- 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
Added Tag
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Tag treatable tag was added to gene: ETFDH.
Entity classified by Genomics England curator
Bryony Thompson (Royal Melbourne Hospital)Gene: etfdh has been classified as Green List (High Evidence).
Entity classified by Genomics England curator
Bryony Thompson (Royal Melbourne Hospital)Gene: etfdh has been classified as Green List (High Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Bryony Thompson (Royal Melbourne Hospital)gene: ETFDH was added gene: ETFDH was added to Hereditary Neuropathy - complex. Sources: Literature Mode of inheritance for gene: ETFDH was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ETFDH were set to 32608139; 35309592; 26821934 Phenotypes for gene: ETFDH were set to Multiple acyl-CoA dehydrogenase deficiency MONDO:0009282; sensory neuropathy Review for gene: ETFDH was set to GREEN gene: ETFDH was marked as current diagnostic