TOPORS

TOP1 binding arginine/serine rich protein
OMIM: 609507, Gene2Phenotype

7 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 7 panels
Amber TOPORS in Ciliopathies Level 2: Dysmorphic and congenital abnormality syndromes Version 1.54	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Expert Review 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 1.27	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Joubert syndrome, MONDO:0018772, TOPORS-related Tags founder
Green TOPORS in Mendeliome Version 1.1891	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Victorian Clinical Genetics Services Phenotypes Retinitis pigmentosa 31 (MIM#609923) Ciliopathy, MONDO:0005308, TOPORS-associated, AR
Amber TOPORS in Polydactyly Level 2: Dysmorphic and congenital abnormality syndromes Version 0.276 Component of the following Super Panels: Limb and Digital Malformations SuperPanel	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes MONDO:0005308 ciliopathy postaxial polydactyly multiple lingual hamartomas dysmorphic features
Red TOPORS in Skeletal dysplasia Level 3: Skeletal dysplasias Level 2: Skeletal disorders Version 0.285	review	Not set	Sources Expert Review Emory Genetics Laboratory
Green TOPORS in Retinitis pigmentosa_Autosomal Dominant Level 2: Ophthalmological disorders Version 0.57 Component of the following Super Panels: Retinal Disorders Superpanel Retinitis Pigmentosa Superpanel	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Retinitis pigmentosa 31, 609923
Amber TOPORS in Fetal anomalies Version 1.255	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes MONDO:0005308 ciliopathy postaxial polydactyly multiple lingual hamartomas dysmorphic features