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| Ataxia v2.128 | NDUFA13 | Sangavi Sivagnanasundram Classified gene: NDUFA13 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ataxia v2.128 | NDUFA13 | Sangavi Sivagnanasundram Gene: ndufa13 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ataxia v2.127 | NDUFA13 |
Sangavi Sivagnanasundram changed review comment from: PMID 39963288 reports >5 unrelated individuals with biallelic NDUFA13 variants presenting with infantile‑onset neurodevelopmental disorder characterised by cerebellar ataxia, spasticity, hypotonia and epilepsy. Note: One of the reported variants has a higher FAF in gnomAD v4.1 for an AR gene - c.187G>A (Glu63Lys). Sources: Literature; to: PMID 39963288 reports >5 unrelated individuals with biallelic NDUFA13 variants presenting with infantile‑onset neurodevelopmental disorder characterised by cerebellar ataxia, spasticity, hypotonia and epilepsy. Note: One of the reported variants has a higher FAF in gnomAD v4.1 for an AR gene - c.187G>A (Glu63Lys) FAF 0.06%. Sources: Literature |
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| Ataxia v2.127 | NDUFA13 |
Sangavi Sivagnanasundram gene: NDUFA13 was added gene: NDUFA13 was added to Ataxia. Sources: Literature Mode of inheritance for gene: NDUFA13 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: NDUFA13 were set to 39963288 Phenotypes for gene: NDUFA13 were set to mitochondrial complex I deficiency, nuclear type 28, MONDO:0032632 Review for gene: NDUFA13 was set to GREEN Added comment: PMID 39963288 reports >5 unrelated individuals with biallelic NDUFA13 variants presenting with infantile‑onset neurodevelopmental disorder characterised by cerebellar ataxia, spasticity, hypotonia and epilepsy. Note: One of the reported variants has a higher FAF in gnomAD v4.1 for an AR gene - c.187G>A (Glu63Lys). Sources: Literature |
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