| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Mitochondrial disease v0.1298 | SUPV3L1 | Zornitza Stark Marked gene: SUPV3L1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disease v0.1298 | SUPV3L1 | Zornitza Stark Gene: supv3l1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disease v0.1298 | SUPV3L1 | Zornitza Stark Classified gene: SUPV3L1 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disease v0.1298 | SUPV3L1 | Zornitza Stark Gene: supv3l1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disease v0.1297 | SUPV3L1 |
Zornitza Stark gene: SUPV3L1 was added gene: SUPV3L1 was added to Mitochondrial disease. Sources: Literature Mode of inheritance for gene: SUPV3L1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SUPV3L1 were set to 39596606; 35023579 Phenotypes for gene: SUPV3L1 were set to Mitochondrial disease, MONDO:0044970 Review for gene: SUPV3L1 was set to AMBER Added comment: PMID 35023579 reports two siblings from a consanguineous Omani family with a homozygous truncating SUPV3L1 variant (c.2215C>T, p.Gln739*). PMID 39596606 reports one individual with compound heterozygous splice (c.272-2A>G) and missense (c.1924A>C, p.Ser642Arg) SUPV3L1 variants. All three patients present with early‑onset neurodegenerative mitochondrial disease characterized by progressive spasticity/ataxia, optic atrophy, skin hypopigmentation, lactate elevation and neurodegeneration. Limited functional data. Sources: Literature |
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