RBCK1

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

8 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 8 panels
Green RBCK1 in Glycogen Storage Diseases Level 2: Metabolic disorders Version 2.0	1 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 2.0	1 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 2.0	1 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 Autoinflammatory Disorders Level 2: Immunological disorders Version 3.0	1 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 2.0	2 reviews	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 1.0	0 reviews	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 1.0	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Other
Green RBCK1 in Prepair 1000+ Level 2: Screening Version 3.0	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Polyglucosan body myopathy 1 with or without immunodeficiency, MIM #615895