Limb-Girdle Muscular Dystrophy and Distal Myopathy
Gene: ETFDHEnsemblGeneIds (GRCh38): ENSG00000171503
EnsemblGeneIds (GRCh37): ENSG00000171503
OMIM: 231675, Gene2Phenotype
ETFDH is in 18 panels
3 reviews
Bryony Thompson (Royal Melbourne Hospital)
Well-established gene-disease association. Associated with the later-onset form of the condition, where rhabdomyolysis/myopathy can be a prominent feature.
DEFINITIVE gene-disease validity assessed by ClinGen Fatty Acid Oxidation Disorders GCEP. Classification - 05/22/2018.Created: 4 Apr 2022, 6:30 a.m. | Last Modified: 4 Apr 2022, 6:30 a.m.
Panel Version: 0.12542
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
multiple acyl-CoA dehydrogenase deficiency MONDO:0009282
Publications
Variants in this GENE are reported as part of current diagnostic practice
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
Comment when marking as ready: Metabolic disorder with phenotypic overlap.Created: 1 Jul 2020, 7:55 a.m. | Last Modified: 1 Jul 2020, 7:55 a.m.
Panel Version: 0.46
Elena Savva (Victorian Clinical Genetics Services)
PMID: 19592060 - 1 adult patient reported with weakness in pelvic girdle muscles
PMID: 17412732 - 7 patients (5 families) with exercise intolerance and proximal myopathy with elevated CK levels. Onset ranged from childhood to adult-onset. Muscle histology in all five index cases revealed similar findings: moderate to severe myopathy with small vacuoles in most type 1 fibres. Patient also had subacute (3–6 months) exercise intolerance and proximal weakness affecting predominantly hip and shoulder girdle muscles.
Sources: Expert listCreated: 1 Jul 2020, 2:29 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Glutaric acidemia IIC 231680
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Expert Review Amber
- Expert list
- Phenotypes
-
- Glutaric acidemia IIC 231680
- 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
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: etfdh has been classified as Amber List (Moderate Evidence).
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: etfdh has been classified as Amber List (Moderate Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Elena Savva (Victorian Clinical Genetics Services)gene: ETFDH was added gene: ETFDH was added to Limb Girdle Muscular Dystrophy. Sources: Expert list Mode of inheritance for gene: ETFDH was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ETFDH were set to PMID: 19592060; 17412732 Phenotypes for gene: ETFDH were set to Glutaric acidemia IIC 231680 Review for gene: ETFDH was set to AMBER