Activity

Filter

Cancel
Date Panel Item Activity
2 actions
Retinitis pigmentosa v0.201 Bryony Thompson Copied gene TOPORS from panel Retinitis pigmentosa_Autosomal Dominant
Retinitis pigmentosa v0.201 TOPORS Bryony Thompson gene: TOPORS was added
gene: TOPORS was added to Retinitis pigmentosa_Autosomal Recessive/X-linked. Sources: Expert Review Green,Royal Melbourne Hospital
Mode of inheritance for gene: TOPORS was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: TOPORS were set to 17924349; 28041643; 18509552; 24938718; 31736247; 28224992; 19183411; 19373681; 28453362; 33576794; 33691693
Phenotypes for gene: TOPORS were set to Retinitis pigmentosa 31, MIM#609923; TOPORS-related retinopathy MONDO:0700233