| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Mitochondrial disease v2.4 | SUPV3L1 | Zornitza Stark Phenotypes for gene: SUPV3L1 were changed from Mitochondrial disease, MONDO:0044970 to Mitochondrial disease, MONDO:0044970, SUPV3L1-related | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disease v2.3 | SUPV3L1 | Zornitza Stark Publications for gene: SUPV3L1 were set to 39596606; 35023579 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disease v2.2 | SUPV3L1 | Zornitza Stark Classified gene: SUPV3L1 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disease v2.2 | SUPV3L1 | Zornitza Stark Gene: supv3l1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disease v2.1 | SUPV3L1 | Zornitza Stark edited their review of gene: SUPV3L1: Added comment: Six studies have now identified over 20 families with biallelic SUPV3L1 variants, expanding the phenotype to a variable neurodevelopmental/mitochondrial disorder characterised by infant‑onset motor delay, intellectual disability, microcephaly, spasticity, leukodystrophy, optic atrophy and skin hypopigmentation. Functional data include variant‑specific dsRNA‑clearance assays for missense alleles, lentiviral rescue of the mitochondrial RNA‑processing defect in patient fibroblasts, and a supv3l1 knockout zebrafish model that recapitulates mitochondrial dysfunction and interferon activation.; Changed rating: GREEN; Changed publications: 39596606, 35023579, 42466401, 10.21203/rs.3.rs-4356120, 36344539, 34946966; Changed phenotypes: Mitochondrial disease, MONDO:0044970, SUPV3L1-related | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disease v2.0 | SUPV3L1 | Gene migrated from ENSG00000156502 to ENSG00000156502 (gene set migration) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| 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 |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||