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 1.94	3 reviews	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 1.31	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Joubert syndrome, MONDO:0018772, TOPORS-related Tags founder
Green TOPORS in Mendeliome Version 1.3499	2 reviews	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 0.296 Component of the following Super Panels: Limb and Digital Malformations SuperPanel	1 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 0.346	2 reviews	Not set	Sources Expert Review Emory Genetics Laboratory
Green TOPORS in Retinitis pigmentosa_Autosomal Dominant Level 2: Ophthalmological disorders Version 0.80 Component of the following Super Panels: Retinal Disorders Superpanel Retinitis Pigmentosa Superpanel	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
Amber TOPORS in Fetal anomalies Version 1.465	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes MONDO:0005308 ciliopathy postaxial polydactyly multiple lingual hamartomas dysmorphic features