| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Hereditary Neuropathy - complex v0.135 | ETFDH | Zornitza Stark Tag treatable tag was added to gene: ETFDH. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Neuropathy - complex v0.125 | ETFDH | Bryony Thompson Marked gene: ETFDH as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Neuropathy - complex v0.125 | ETFDH | Bryony Thompson Gene: etfdh has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Neuropathy - complex v0.125 | ETFDH | Bryony Thompson Classified gene: ETFDH as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Neuropathy - complex v0.125 | ETFDH | Bryony Thompson Gene: etfdh has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Neuropathy - complex v0.124 | ETFDH |
Bryony Thompson gene: ETFDH was added gene: ETFDH was added to Hereditary Neuropathy - complex. Sources: Literature Mode of inheritance for gene: ETFDH was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ETFDH were set to 32608139; 35309592; 26821934 Phenotypes for gene: ETFDH were set to Multiple acyl-CoA dehydrogenase deficiency MONDO:0009282; sensory neuropathy Review for gene: ETFDH was set to GREEN gene: ETFDH was marked as current diagnostic Added comment: Sensory neuropathy can be a feature of the condition. >10 cases with biallelic variants has been reported with sensory neuropathy confirmed with nerve conduction studies. Sources: Literature |
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