Activity
| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
1 actions
|
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Optic neuropathy v6.42 | PHB |
Cassandra Smith gene: PHB was added gene: PHB was added to Optic neuropathy. Sources: Literature Mode of inheritance for gene: PHB was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: PHB were set to 42067999 Review for gene: PHB was set to AMBER Added comment: 42067999: c.440C>T (p.Ser147Phe) segregating in five affected members of a three generation family. Ratios of OPA1 short and long isoforms were shifted in patients compared to controls Sources: Literature |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||