RBCK1

RANBP2-type and C3HC4-type zinc finger containing 1
OMIM: 610924
PanelMode of inheritanceDetails
4 panels
R-numbers: R413
Signed-off version 1.1
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Polyglucosan body myopathy 1 with or without immunodeficiency, OMIM:615895
Component of the following Super Panels:
  • - Hypotonic infant
  • - Paediatric disorders
  • - White matter disorders - childhood onset
R-numbers: R98
Signed-off version 3.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Polyglucosan body myopathy 1 with or without immunodeficiency, OMIM:615895
R-numbers: R15
Signed-off version 3.3
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
Component of the following Super Panels:
  • - Hypotonic infant
  • - Neuromuscular disorders
Signed-off version 2.1
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Polyglucosan body myopathy 1 with or without immunodeficiency, OMIM:615895