Limb-Girdle Muscular Dystrophy and Distal Myopathy
Gene: ETFDH
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
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
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
Gene: etfdh has been classified as Amber List (Moderate Evidence).
Gene: etfdh has been classified as Amber List (Moderate Evidence).
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