Inherited white matter disorders
Gene: ETFDHEnsemblGeneIds (GRCh38): ENSG00000171503
EnsemblGeneIds (GRCh37): ENSG00000171503
OMIM: 231675, Gene2Phenotype
ETFDH is in 18 panels
2 reviews
Ellen McDonagh (Genomics England Curator)
Comment on list classification: Gene rated green and diagnostic-grade by expert reviewer, confirmed DD gene for GLUTARIC ACIDURIA TYPE 2C, more than 3 cases, and different variants, reported in OMIM. On the Minimum recommended gene list for broad spectrum genetic testing for single-nucleotide variants associated with leukodystrophies and genetic leukoencephalopathies reported in PMID: 25655951 for Glutaric Acidemia IIC.Created: 16 Aug 2016, 10:53 a.m.
Ian Berry (Leeds Genetics Laboratory)
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
General Leukodystrophy & Mitochondrial Leukoencephalopathy
Publications
- Parikh et al. Molecular Genetics and Metabolism 114 (2015) 501_670
Variants in this GENE are reported as part of current diagnostic practice
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Phenotypes
-
- Glutaric Acidemia IIC
- Mitochondrial Leukoencephalopathy
- OMIM
- 231675
- Clinvar variants
- Variants in ETFDH
- Penetrance
- Complete
- Publications
- Panels with this gene
-
- Fetal anomalies
- Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies
- Paediatric or syndromic cardiomyopathy
- Hereditary neuropathy or pain disorder
- Likely inborn error of metabolism
- Acute rhabdomyolysis
- Undiagnosed metabolic disorders
- Inherited white matter disorders
- Hyperammonaemia
- Intellectual disability
- Childhood onset dystonia, chorea or related movement disorder
- Mitochondrial disorders
- Rhabdomyolysis and metabolic muscle disorders
- DDG2P
- White matter disorders and cerebral calcification - narrow panel
- Possible mitochondrial disorder - nuclear genes
- Hereditary neuropathy
- Arthrogryposis
History Filter Activity
panel promoted to version 1
Ellen McDonagh (Genomics England Curator)6th Oct 2016: Panel promoted to version 1 after expert review and input, further curation and clinical input.
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Set Phenotypes
Ellen McDonagh (Genomics England Curator)Phenotypes for ETFDH were set to Glutaric Acidemia IIC;Mitochondrial Leukoencephalopathy
Set publications
Ellen McDonagh (Genomics England Curator)Publications for ETFDH were set to 25655951
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Added New Source
Ian Berry (Leeds Genetics Laboratory)ETFDH was added to Inherited white matter disorderspanel. Sources: Expert list
Created
Ian Berry (Leeds Genetics Laboratory)ETFDH was created by [email protected]