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| Optic Atrophy v2.4 | SUPV3L1 | Zornitza Stark Phenotypes for gene: SUPV3L1 were changed from Mitochondrial disease, MONDO:0044970 to Mitochondrial disease, MONDO:0044970, SUPV3L1-related | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Optic Atrophy v2.3 | SUPV3L1 | Zornitza Stark Publications for gene: SUPV3L1 were set to 39596606; 35023579 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Optic Atrophy v2.2 | SUPV3L1 | Zornitza Stark Classified gene: SUPV3L1 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Optic Atrophy v2.2 | SUPV3L1 | Zornitza Stark Gene: supv3l1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Optic Atrophy 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 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Optic Atrophy v2.0 | SUPV3L1 | Gene migrated from ENSG00000156502 to ENSG00000156502 (gene set migration) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Optic Atrophy v1.65 | SUPV3L1 | Zornitza Stark Marked gene: SUPV3L1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Optic Atrophy v1.65 | SUPV3L1 | Zornitza Stark Gene: supv3l1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Optic Atrophy v1.65 | Zornitza Stark Copied gene SUPV3L1 from panel Mitochondrial disease | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Optic Atrophy v1.65 | SUPV3L1 |
Zornitza Stark gene: SUPV3L1 was added gene: SUPV3L1 was added to Optic Atrophy. Sources: Expert Review Amber,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 |
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