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| Hereditary neuropathy or pain disorder v5.81 | UQCRC1 | Arina Puzriakova Classified gene: UQCRC1 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary neuropathy or pain disorder v5.81 | UQCRC1 |
Arina Puzriakova Added comment: Comment on list classification: Rating Amber based on current evidence - three unrelated individuals with Parkinson's disease and heterozygous variants identified by one group (PMID: 33141179) but results have failed to be replicated in large European and Chinese cohorts (PMIDs: 33779694; 33248804). This matches the latest classification on other GMS panels. Furthermore, polyneuropathy was only confirmed in 1/3 families. Knock-in mice with the affected family variant did exhibit significant reductions in distal CMAP amplitudes compared to WT littermates at 12 months (but not 9 months), as well as a slightly reduced conduction velocity but preserved distal motor latency. Peripheral nerve fibre morphology showed decrease in the diameter of myelinated nerve fibres. |
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| Hereditary neuropathy or pain disorder v5.81 | UQCRC1 | Arina Puzriakova Gene: uqcrc1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary neuropathy or pain disorder v5.80 | UQCRC1 | Arina Puzriakova Phenotypes for gene: UQCRC1 were changed from parkinsonism; peripheral neuropathy to Parkinsonism with polyneuropathy, OMIM:619279 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary neuropathy or pain disorder v5.19 | UQCRC1 |
Alexander Rossor gene: UQCRC1 was added gene: UQCRC1 was added to Hereditary neuropathy or pain disorder. Sources: Expert list Mode of inheritance for gene: UQCRC1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: UQCRC1 were set to 33141179 Phenotypes for gene: UQCRC1 were set to parkinsonism; peripheral neuropathy Penetrance for gene: UQCRC1 were set to Complete Review for gene: UQCRC1 was set to GREEN Added comment: Sources: Expert list |
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