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| Hereditary Neuropathy v1.150 | Bryony Thompson Copied gene RCC1 from panel Hereditary Neuropathy_CMT - isolated | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Neuropathy v1.150 | RCC1 |
Bryony Thompson gene: RCC1 was added gene: RCC1 was added to Hereditary Neuropathy. Sources: Expert Review Green,Expert list Mode of inheritance for gene: RCC1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: RCC1 were set to 40683276 Phenotypes for gene: RCC1 were set to Infection-induced acute-onset axonal neuropathy, MIM# 621333 |
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| Hereditary Neuropathy v0.53 | XRCC1 | Bryony Thompson Classified gene: XRCC1 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Neuropathy v0.53 | XRCC1 | Bryony Thompson Gene: xrcc1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Neuropathy v0.52 | XRCC1 |
Bryony Thompson gene: XRCC1 was added gene: XRCC1 was added to Hereditary Neuropathy - complex. Sources: Expert list Mode of inheritance for gene: XRCC1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: XRCC1 were set to 28002403; 29472272 Phenotypes for gene: XRCC1 were set to Spinocerebellar ataxia, autosomal recessive 26 MIM#617633 Review for gene: XRCC1 was set to GREEN Added comment: Three South Asian cases (one with early adult onset and the other two with onset in childhood) reported with slowly progressive cerebellar ataxia accompanied by sensorimotor neuropathy. All with the recurrent splice variant (c.1293G>C, 2 homozygotes and a compound heterozygote). Mice with conditional deletion of the Xrcc1 gene in the brain showed cerebellar ataxia. Sources: Expert list |
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