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| Hereditary neuropathy or pain disorder v7.13 | DLD | Arina Puzriakova Phenotypes for gene: DLD were changed from hepatic dysfunction; sensory axonal neuropathy to Dihydrolipoamide dehydrogenase deficiency, OMIM:246900; hepatic dysfunction; sensory axonal neuropathy | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary neuropathy or pain disorder v7.12 | DLD | Arina Puzriakova Classified gene: DLD as Red List (low evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary neuropathy or pain disorder v7.12 | DLD | Arina Puzriakova Added comment: Comment on list classification: Several cases reported with Dihydrolipoamide dehydrogenase deficiency (OMIM:246900) but only a single report linking this to a reversible sensory neuropathy (PMID:40888368). It is worth noting that neuropathy occurred without lactic acidosis or secondary vitamin deficiencies, coupled with lipid deposition in peripheral nerve biopsies. This requires validation through additional corroborative cases and therefore rating as Red until such cases emerge. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary neuropathy or pain disorder v7.12 | DLD | Arina Puzriakova Gene: dld has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary neuropathy or pain disorder v7.8 | DLD |
Alexander Rossor gene: DLD was added gene: DLD was added to Hereditary neuropathy or pain disorder. Sources: Other Mode of inheritance for gene: DLD was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: DLD were set to 40888368 Phenotypes for gene: DLD were set to hepatic dysfunction; sensory axonal neuropathy Penetrance for gene: DLD were set to Complete Review for gene: DLD was set to AMBER Added comment: Single case reporting sensory axonal neuropathy therefore should be amber for now Sources: Other |
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