RDH12

retinol dehydrogenase 12 (all-trans/9-cis/11-cis)
OMIM: 608830, Gene2Phenotype

10 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 10 panels
Green RDH12 in Mendeliome Version 1.1902	review	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Leber congenital amaurosis 13, MIM# 612712 Retinitis pigmentosa, autosomal dominant
Red RDH12 in Skeletal dysplasia Level 3: Skeletal dysplasias Level 2: Skeletal disorders Version 0.285	review	Not set	Sources Expert Review Green Emory Genetics Laboratory Victorian Clinical Genetics Services
Green RDH12 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 13, 612712 Retinitis Pigmentosa, Recessive
Green RDH12 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	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Leber congenital amaurosis 13, 612712 Retinitis Pigmentosa
Green RDH12 in Macular Dystrophy/Stargardt Disease Level 2: Ophthalmological disorders Version 0.45 Component of the following Super Panels: Retinal Disorders Superpanel	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Royal Melbourne Hospital Expert Review Green Phenotypes Leber congenital amaurosis 13, 612712
Green RDH12 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 Leber congenital amaurosis 13, 612712 (3)
Green RDH12 in Congenital nystagmus Level 2: Ophthalmological disorders Version 1.21	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Leber congenital amaurosis 13, MIM# 612712
Green RDH12 in Prepair 1000+ Level 2: Screening Version 1.9	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Leber congenital amaurosis 13, 612712 (3)
Green RDH12 in Prepair 500+ Level 2: Screening Version 1.1	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Leber congenital amaurosis 13, 612712 (3)
Green RDH12 in Vitamin metabolism disorders Level 2: Metabolic disorders Version 1.6 Component of the following Super Panels: Metabolic Disorders Superpanel	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Leber congenital amaurosis 13 MONDO:0012990 Other disorders of vitamin metabolism