IQCB1

IQ motif containing B1
OMIM: 609237
PanelMode of inheritanceDetails
5 panels
R-numbers: R21, R412
Signed-off version 2.1
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Senior-Loken syndrome 5 609254
Component of the following Super Panels:
  • - Paediatric disorders
  • - Rare multisystem ciliopathy Super panel
Signed-off version 2.1
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Senior-Loken syndrome 5, 609254, Senior-Loken syndrome
Component of the following Super Panels:
  • - Cystic renal disease
  • - Paediatric disorders
  • - Rare multisystem ciliopathy Super panel
Signed-off version 2.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Senior-Loken syndrome 5, 609254, Senior-Loken syndrome
R-numbers: R32
Signed-off version 3.3
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Senior-Loken syndrome 5 (nephronophthisis and Leber congenital amaurosis), Leber congenital amaurosis, Eye Disorders
R-numbers: R257
Signed-off version 2.1
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Ciliopathy genes associated with cystic kidney disease, Senior-Loken syndrome 5 609254