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| Ataxia v2.26 | C19orf12 | Sangavi Sivagnanasundram Classified gene: C19orf12 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ataxia v2.26 | C19orf12 | Sangavi Sivagnanasundram Gene: c19orf12 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ataxia v2.25 | C19orf12 |
Sangavi Sivagnanasundram gene: C19orf12 was added gene: C19orf12 was added to Ataxia. Sources: Literature Mode of inheritance for gene: C19orf12 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: C19orf12 were set to 39755877 Phenotypes for gene: C19orf12 were set to neurodegeneration with brain iron accumulation 4, MONDO:0013674 Review for gene: C19orf12 was set to GREEN Added comment: Mitochondrial membrane protein-associated neurodegeneration (MPAN)/NBIA 4 is a rare neurodegenerative disorder characterised by spastic paraplegia, parkinsonism, and psychiatric and/or behavioural symptoms. PMID 39755877 reports 4 individuals from 4 unrelated families with rare homozygous variants in C19orf12, with ataxia as a presenting feature. Note, C19orf12 was formally known as SPG43 Sources: Literature |
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