TOPORS:Ensemblv115

TOP1 binding arginine/serine rich protein, E3 ubiquitin ligase
OMIM: 609507, ClinGen, DECIPHER

5 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 5 panels
Amber TOPORS in Ciliopathies Level 2: Dysmorphic and congenital abnormality syndromes Version 2.0	3 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Expert Review Amber Phenotypes ciliopathy, MONDO:0005308, TOPORS-associated postaxial polydactyly, MONDO:0020927, TOPORS-related multiple lingual hamartomas
Amber TOPORS in Joubert syndrome and other neurological ciliopathies Level 2: Neurology and neurodevelopmental disorders Version 2.0	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Literature Expert Review Amber Phenotypes Joubert syndrome, MONDO:0018772, TOPORS-related Tags founder
Amber TOPORS in Polydactyly Level 2: Dysmorphic and congenital abnormality syndromes Version 1.0	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Literature Expert Review Amber Phenotypes MONDO:0005308 ciliopathy postaxial polydactyly multiple lingual hamartomas dysmorphic features
Green TOPORS in Retinitis pigmentosa Level 2: Ophthalmological disorders Version 1.0	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Retinitis pigmentosa 31, MIM#609923 TOPORS-related retinopathy MONDO:0700233
Green TOPORS in Retinitis pigmentosa_Autosomal Dominant Level 2: Ophthalmological disorders Version 1.0	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Royal Melbourne Hospital Expert Review Green Phenotypes Retinitis pigmentosa 31, MIM#609923 TOPORS-related retinopathy MONDO:0700233