| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Retinitis pigmentosa v0.197 | Bryony Thompson Copied gene ROM1 from panel Retinitis pigmentosa_Autosomal Dominant | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinitis pigmentosa v0.197 | ROM1 |
Bryony Thompson gene: ROM1 was added gene: ROM1 was added to Retinitis pigmentosa_Autosomal Recessive/X-linked. Sources: Expert Review Green,Royal Melbourne Hospital Mode of inheritance for gene: ROM1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: ROM1 were set to 32036094; 8202715; 30630813; 24618324; 20300562; 32716032 Phenotypes for gene: ROM1 were set to Retinitis pigmentosa 7, digenic, 608133 |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Retinitis pigmentosa v0.0 | PROM1 |
Bryony Thompson gene: PROM1 was added gene: PROM1 was added to Autosomal Recessive/X-Linked Retinitis Pigmentosa_RMH. Sources: Royal Melbourne Hospital,Expert Review Green Mode of inheritance for gene: PROM1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Phenotypes for gene: PROM1 were set to Stargardt disease 4, 603786; Macular dystrophy, retinal, 2, 608051; Retinitis pigmentosa 41, 612095; Cone-rod dystrophy 12, 612657 |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||