Rhabdomyolysis and metabolic muscle 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
1 review
Sarah Leigh (Genomics England Curator)
Comment when marking as ready: Associated with phenotype in OMIM and as a confirmed Developmental Disorder Gene / G2P. At least 8 variants reported publicly.Created: 2 Dec 2016, 11:25 a.m.
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Emory Genetics Laboratory
- Illumina TruGenome Clinical Sequencing Services
- Radboud University Medical Center, Nijmegen
- UKGTN
- Phenotypes
-
- Glutaric acidemia IIC 231680
- OMIM
- 231675
- Clinvar variants
- Variants in ETFDH
- Penetrance
- Complete
- Publications
- Panels with this gene
-
- Childhood onset dystonia, chorea or related movement disorder
- Rhabdomyolysis and metabolic muscle disorders
- White matter disorders and cerebral calcification - narrow panel
- Hereditary neuropathy
- Mitochondrial disorders
- DDG2P
- Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies
- Intellectual disability
- Inherited white matter disorders
- Hyperammonaemia
- Likely inborn error of metabolism
- Acute rhabdomyolysis
- Possible mitochondrial disorder - nuclear genes
- Arthrogryposis
- Paediatric or syndromic cardiomyopathy
- Fetal anomalies
- Hereditary neuropathy or pain disorder
- Undiagnosed metabolic disorders
History Filter Activity
4 Jan 2017, Gel status: 4
panel promoted to version 1
Sarah Leigh (Genomics England Curator)Panel promoted to V1 4th January 2017
2 Dec 2016, Gel status: 4
Gene classified by Genomics England curator
Sarah Leigh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
1 Dec 2016, Gel status: 4
Upload gene information
Sarah Leigh (Genomics England Curator)ETFDH was added to Rhabdomyolysis and metabolic muscle disorderspanel. Sources: Emory Genetics Laboratory,Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen
1 Dec 2016, Gel status: 1
Set Mode of Inheritance
Sarah Leigh (Genomics England Curator)Model of inheritance for gene ETFDH was set to BIALLELIC, autosomal or pseudoautosomal
1 Dec 2016, Gel status: 1
Set Phenotypes
Sarah Leigh (Genomics England Curator)Phenotypes for gene ETFDH were set to Glutaric acidemia IIC 231680
24 Nov 2016, Gel status: 0
Created
Sarah Leigh (Genomics England Curator)ETFDH was created by sleigh
24 Nov 2016, Gel status: 1
Added New Source
Sarah Leigh (Genomics England Curator)ETFDH was added to Rhabdomyolysis and metabolic muscle disorderspanel. Sources: UKGTN