| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Cataract v0.576 | PARK7 | Zornitza Stark Marked gene: PARK7 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cataract v0.576 | PARK7 | Zornitza Stark Gene: park7 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cataract v0.576 | PARK7 | Zornitza Stark Classified gene: PARK7 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cataract v0.576 | PARK7 | Zornitza Stark Gene: park7 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cataract v0.575 | PARK7 |
Zornitza Stark gene: PARK7 was added gene: PARK7 was added to Cataract. Sources: Literature Mode of inheritance for gene: PARK7 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PARK7 were set to 40127637; 31028127; 27460976 Phenotypes for gene: PARK7 were set to Parkinson disease 7, autosomal recessive early-onset, MIM# 606324 Review for gene: PARK7 was set to GREEN Added comment: PMID 27460976, 31028127 and 40127637 report a total of 3 individuals from 3 unrelated families with autosomal recessive PARK7 loss‑of‑function variants presenting with early‑onset Parkinson disease and bilateral cataracts (often accompanied by hearing loss and distal spinal amyotrophy). Functional studies in patient fibroblasts demonstrate reduced DJ‑1 protein and mitochondrial dysfunction. Sources: Literature |
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