| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Retinitis pigmentosa v0.211 | Bryony Thompson Copied gene RP9 from panel Retinitis pigmentosa_Autosomal Dominant | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinitis pigmentosa v0.211 | RP9 |
Bryony Thompson gene: RP9 was added gene: RP9 was added to Retinitis pigmentosa_Autosomal Recessive/X-linked. Sources: Expert Review Red,Royal Melbourne Hospital Mode of inheritance for gene: RP9 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: RP9 were set to 16799052; 16671097 Phenotypes for gene: RP9 were set to Retinitis pigmentosa 9, 180104 |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinitis pigmentosa v0.129 | RAX2 |
Zornitza Stark gene: RAX2 was added gene: RAX2 was added to Retinitis pigmentosa_Autosomal Recessive/X-linked. Sources: Literature Mode of inheritance for gene: RAX2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: RAX2 were set to 30607024 Phenotypes for gene: RAX2 were set to Retinitis pigmentosa-95 (RP95), MIM#620102 Review for gene: RAX2 was set to GREEN Added comment: 6 individuals from 5 families reported. Sources: Literature |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||