RBCK1

RANBP2-type and C3HC4-type zinc finger containing 1
OMIM: 610924
PanelMode of inheritanceDetails
3 panels
Component of the following Super Panels:
  • - Hypotonic infant
  • - Paediatric disorders
  • - White matter disorders - childhood onset
R-numbers: R98
Signed-off version 2.3
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Polyglucosan body myopathy 1 with or without immunodeficiency 615895
R-numbers: R15
Signed-off version 2.1
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Polyglucosan body myopathy, early-onset, with or without immunodeficiency 615895, Other autoinflammatory diseases with known genetic defect, HOIL1 deficiency, Bacterial infections, autoinflammation, amylopectinosis, Combined immunodeficiencies with associated or syndromic features
Component of the following Super Panels:
  • - Hypotonic infant
  • - Neuromuscular disorders
Signed-off version 1.34
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Polyglucosan body myopathy 1 with or without immunodeficiency 615895