RBCK1

RANBP2-type and C3HC4-type zinc finger containing 1
OMIM: 610924, Gene2Phenotype

9 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 9 panels
Green RBCK1 in Vasculitis Level 2: Immunological disorders Version 0.82	review	Unknown	Sources Victorian Clinical Genetics Services Expert Review Green
Green RBCK1 in Glycogen Storage Diseases Level 2: Metabolic disorders Version 1.2 Component of the following Super Panels: Metabolic Disorders Superpanel Progressive Neurological Conditions	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Polyglucosan body myopathy 1 with or without immunodeficiency MIM#615895
Green RBCK1 in Mendeliome Version 1.1902	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Polyglucosan body myopathy 1 with or without immunodeficiency MIM# 615895 muscular weakness cardiomyopathy recurrent bacterial/viral infections autoinflammation immunodeficiency Poor antibody responses to polysaccharides failure to thrive fever pneumonia
Green RBCK1 in Combined Immunodeficiency Level 2: Immunological disorders Version 1.66 Component of the following Super Panels: Immunological disorders_SuperPanel	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Phenotypes Polyglucosan body myopathy 1 with or without immunodeficiency MIM# 615895 muscular weakness cardiomyopathy recurrent bacterial/viral infections autoinflammation immunodeficiency Poor antibody responses to polysaccharides failure to thrive fever pneumonia
Green RBCK1 in Systemic Autoinflammatory Disease_Periodic Fever Level 2: Immunological disorders Version 1.47 Component of the following Super Panels: Immunological disorders_SuperPanel	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Phenotypes Polyglucosan body myopathy 1 with or without immunodeficiency MIM# 615895 muscular weakness cardiomyopathy recurrent bacterial/viral infections autoinflammation immunodeficiency Poor antibody responses to polysaccharides failure to thrive fever pneumonia
Green RBCK1 in Rhabdomyolysis and Metabolic Myopathy Level 2: Neurology and neurodevelopmental disorders Version 1.6 Component of the following Super Panels: Myopathy Superpanel Neuromuscular Superpanel Progressive Neurological Conditions	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Green Royal Melbourne Hospital Phenotypes Polyglucosan body myopathy 1 with or without immunodeficiency 615895
Green RBCK1 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 Polyglucosan body myopathy 1 with or without immunodeficiency, 615895 (3)
Green RBCK1 in Cardiomyopathy_Paediatric Level 2: Cardiovascular disorders Version 0.192	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Other
Green RBCK1 in Prepair 1000+ Level 2: Screening Version 1.9	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Polyglucosan body myopathy 1 with or without immunodeficiency, 615895 (3)