PDE6B

phosphodiesterase 6B
OMIM: 180072, ClinGen, DECIPHER

7 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 7 panels
Green PDE6B in Mendeliome Version 1.2302	1 review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Night blindness, congenital stationary, autosomal dominant 2 - MIM#163500 Retinitis pigmentosa-40 - MIM#613801
Green PDE6B 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 Retinitis pigmentosa 40 Night blindness, congenital stationary, autosomal dominant 2
Green PDE6B in Retinitis pigmentosa_Autosomal Dominant Level 2: Ophthalmological disorders Version 0.57 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 Night blindness, congenital stationary, autosomal dominant 2, 163500 Retinitis pigmentosa 40
Green PDE6B in Congenital Stationary Night Blindness Level 2: Ophthalmological disorders Version 0.23 Component of the following Super Panels: Retinal Disorders Superpanel	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Night blindness, congenital stationary, autosomal dominant 2, 163500 Retinitis pigmentosa
Red PDE6B in Mackenzie's Mission_Reproductive Carrier Screening Level 2: Screening Version 0.109	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Mackenzie's Mission Phenotypes Retinitis pigmentosa-40, MIM #613801
Red PDE6B in Congenital nystagmus Level 2: Ophthalmological disorders Version 1.22	2 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Royal Melbourne Hospital Phenotypes Night blindness, congenital stationary, autosomal dominant 2, 163500 Retinitis pigmentosa
Red PDE6B in Prepair 1000+ Level 2: Screening Version 1.1566	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Mackenzie's Mission Phenotypes Retinitis pigmentosa-40, MIM #613801