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| Ataxia v2.138 | RFC4 | Sangavi Sivagnanasundram Classified gene: RFC4 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ataxia v2.138 | RFC4 | Sangavi Sivagnanasundram Gene: rfc4 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ataxia v2.137 | RFC4 |
Sangavi Sivagnanasundram gene: RFC4 was added gene: RFC4 was added to Ataxia. Sources: Literature Mode of inheritance for gene: RFC4 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: RFC4 were set to 39106866 Phenotypes for gene: RFC4 were set to Morimoto-Ryu-Malicdan neuromuscular syndrome, MONDO:0975848 Review for gene: RFC4 was set to GREEN Added comment: PMID 39106866 reports four individuals from four unrelated families with biallelic RFC4 variants presenting with a multisystemic disorder that includes cerebellar ataxia, incoordination, muscle weakness, hearing impairment and reduced body weight. Two of the affected individuals also presented with gait ataxia. Note: one of the reported variants has a high FAF in gnomAD v4.1 for an AR gene (c.996+2dup - FAF 0.0581%). Sources: Literature |
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