GUCY2D

guanylate cyclase 2D, retinal
OMIM: 600179, ClinGen, DECIPHER

8 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 8 panels
Green GUCY2D in Mendeliome Version 1.2302	1 review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Cone-rod dystrophy 6, MIM# 601777 Leber congenital amaurosis 1, MIM# 204000 Night blindness, congenital stationary, type 1I, MIM# 618555
Red GUCY2D in Skeletal dysplasia Level 3: Skeletal dysplasias Level 2: Skeletal disorders Version 0.302	1 review	Not set	Sources Expert Review Green Emory Genetics Laboratory Victorian Clinical Genetics Services
Green GUCY2D in Retinitis pigmentosa_Autosomal Recessive/X-linked Level 2: Ophthalmological disorders Version 0.155 Component of the following Super Panels: Retinal Disorders Superpanel Retinitis Pigmentosa Superpanel	0 reviews	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Achromatopsia, Cone, and Cone-rod Dystrophy Cone-rod dystrophy 6 (AD) Leber congenital amaurosis 1, 204000 Retinitis pigmentosa
Green GUCY2D in Mackenzie's Mission_Reproductive Carrier Screening Level 2: Screening Version 0.109	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Leber congenital amaurosis 1, 204000 (3)
Green GUCY2D in Cone-rod Dystrophy Level 2: Ophthalmological disorders Version 0.54 Component of the following Super Panels: Retinal Disorders Superpanel	0 reviews	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Cone-rod dystrophy 6 MIM#601777
Green GUCY2D in Congenital nystagmus Level 2: Ophthalmological disorders Version 1.22	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Leber congenital amaurosis 1, MIM# 204000
Green GUCY2D in Prepair 1000+ Level 2: Screening Version 1.1566	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Leber congenital amaurosis 1, MIM#204000
Green GUCY2D in Prepair 500+ Level 2: Screening Version 1.5	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Leber congenital amaurosis 1, 204000 (3)