| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Hereditary Spastic Paraplegia v2.103 | OPA1 | Bryony Thompson Marked gene: OPA1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Spastic Paraplegia v2.103 | OPA1 | Bryony Thompson Gene: opa1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Spastic Paraplegia v2.103 | OPA1 | Bryony Thompson Classified gene: OPA1 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Spastic Paraplegia v2.103 | OPA1 | Bryony Thompson Gene: opa1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Spastic Paraplegia v2.102 | OPA1 |
Bryony Thompson gene: OPA1 was added gene: OPA1 was added to Hereditary Spastic Paraplegia. Sources: Literature Mode of inheritance for gene: OPA1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: OPA1 were set to 38148580; 35534703; 28494813; 27896119; 27879217; 27165006 Disease associations for gene: OPA1 were set to Behr syndrome, MONDO:0008858; OPA1-related optic atrophy with or without extraocular features, MONDO:0800181; Syndromic disease, MONDO:0002254; autosomal dominant optic atrophy plus syndrome, MONDO:0014720 Review for gene: OPA1 was set to GREEN Added comment: PMID 38148580 reports a single individual from one family with a de novo heterozygous OPA1 missense variant causing hereditary spastic paraplegia with dystonia and ataxia; PMID 27879217 describes one patient with compound heterozygous OPA1 variants presenting as Behr syndrome; PMID 27896119, PMID 35534703 and PMID 27165006 together report three families with autosomal dominant optic atrophy plus syndrome (DOA+) displaying spastic paraparesis, urinary incontinence and other extra‑ocular features, although only one family meets the variant‑qualification criteria; PMID 28494813 reports three unrelated families with biallelic OPA1 loss‑of‑function variants causing an early‑onset spastic ataxic syndrome with peripheral neuropathy. Sources: Literature |
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