RPGRIP1

RPGR interacting protein 1
OMIM: 605446, Gene2Phenotype

9 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 9 panels
Green RPGRIP1 in Ciliopathies Level 2: Dysmorphic and congenital abnormality syndromes Version 1.54	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Phenotypes Leber congenital amaurosis 6 (MIM#613826)
Green RPGRIP1 in Mendeliome Version 1.1891	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Victorian Clinical Genetics Services Phenotypes Cone-rod dystrophy 13 (MIM#608194) , Leber congenital amaurosis (MIM#61382)
Red RPGRIP1 in Skeletal dysplasia Level 3: Skeletal dysplasias Level 2: Skeletal disorders Version 0.285	review	Not set	Sources Expert Review Emory Genetics Laboratory
Green RPGRIP1 in Retinitis pigmentosa_Autosomal Recessive/X-linked Level 2: Ophthalmological disorders Version 0.147 Component of the following Super Panels: Retinal Disorders Superpanel Retinitis Pigmentosa Superpanel	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Leber congenital amaurosis 6, 613826 Cone-rod dystrophy 13, 608194
Green RPGRIP1 in Macular Dystrophy/Stargardt Disease Level 2: Ophthalmological disorders Version 0.45 Component of the following Super Panels: Retinal Disorders Superpanel	review	BIALLELIC, autosomal or pseudoautosomal	Sources Royal Melbourne Hospital Expert Review Green Phenotypes Leber congenital amaurosis 6, 613826 Cone-rod dystrophy 13, 608194
Green RPGRIP1 in Mackenzie's Mission_Reproductive Carrier Screening Level 2: Screening Version 0.109	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Cone-rod dystrophy 13, 608194 (3)
Green RPGRIP1 in Cone-rod Dystrophy Level 2: Ophthalmological disorders Version 0.54 Component of the following Super Panels: Retinal Disorders Superpanel	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Cone-rod dystrophy 13, 608194
Green RPGRIP1 in Congenital nystagmus Level 2: Ophthalmological disorders Version 1.21	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Expert Review Phenotypes Leber congenital amaurosis 6, MIM# 613826 congenital nystagmus
Green RPGRIP1 in Prepair 1000+ Level 2: Screening Version 1.9	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Cone-rod dystrophy 13, 608194 (3)