Genomics England

RBCK1

RANBP2-type and C3HC4-type zinc finger containing 1

Panel	Mode of inheritance	Details
Filter panels6 panels
Green in Autoinflammatory disorders R-numbers: R413 Signed-off version 3.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Polyglucosan body myopathy 1 with or without immunodeficiency, OMIM:615895
Green in DDG2P Component of the following Super Panels: - Paediatric disorders Signed-off version 7.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes RBCK1-related polyglucosan body cardiac and skeletal myopathy with or without immunodeficiency, MONDO:0014389, OMIM:615895.0
Green in Glycogen storage disease R-numbers: R274 Signed-off version 2.6	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Polyglucosan body myopathy 1 with or without immunodeficiency OMIM:615895, polyglucosan body myopathy 1 with or without immunodeficiency MONDO:0014389
Green in Likely inborn error of metabolism Component of the following Super Panels: - Childhood onset leukodystrophy - Hypotonic infant - Paediatric disorders - Unexplained death in infancy and sudden unexplained death in childhood R-numbers: R98 Signed-off version 9.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Polyglucosan body myopathy 1 with or without immunodeficiency, OMIM:615895
Green in Primary immunodeficiency or monogenic inflammatory bowel disease R-numbers: R15 Signed-off version 9.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Polyglucosan body myopathy 1 with or without immunodeficiency, OMIM:615895, Bacterial infections, autoinflammation, amylopectinosis, Combined immunodeficiencies with associated or syndromic features
Green in Rhabdomyolysis and metabolic muscle disorders Component of the following Super Panels: - Hypotonic infant - Other rare neuromuscular disorders Signed-off version 6.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Polyglucosan body myopathy 1 with or without immunodeficiency, OMIM:615895