Genomics England
GMS Panels
Panels
Genes and Entities

RBCK1

RANBP2-type and C3HC4-type zinc finger containing 1
OMIM: 610924
PanelMode of inheritanceDetails
5 panels
Green
in Autoinflammatory disorders
R-numbers: R413
Signed-off version 1.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Polyglucosan body myopathy 1 with or without immunodeficiency, OMIM:615895
Green
in Glycogen storage disease
R-numbers: R274
Signed-off version 2.0
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 - targeted testing not possible
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 4.0
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 4.0
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 3.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Polyglucosan body myopathy 1 with or without immunodeficiency, OMIM:615895