| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Limb-Girdle Muscular Dystrophy and Distal Myopathy v0.46 | ETFDH | Zornitza Stark Marked gene: ETFDH as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Limb-Girdle Muscular Dystrophy and Distal Myopathy v0.46 | ETFDH | Zornitza Stark Added comment: Comment when marking as ready: Metabolic disorder with phenotypic overlap. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Limb-Girdle Muscular Dystrophy and Distal Myopathy v0.46 | ETFDH | Zornitza Stark Gene: etfdh has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Limb-Girdle Muscular Dystrophy and Distal Myopathy v0.46 | ETFDH | Zornitza Stark Classified gene: ETFDH as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Limb-Girdle Muscular Dystrophy and Distal Myopathy v0.46 | ETFDH | Zornitza Stark Gene: etfdh has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Limb-Girdle Muscular Dystrophy and Distal Myopathy v0.35 | ETFDH |
Elena Savva 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 Added comment: 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 list |
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