Genomics England
GMS Panels
Panels
Genes and Entities

IQCB1

IQ motif containing B1
OMIM: 609237
PanelMode of inheritanceDetails
4 panels
Green
in Fetal anomalies
R-numbers: R21, R412
Signed-off version 4.195
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Senior-Loken syndrome 5 609254
Green
in Ophthalmological ciliopathies
Component of the following Super Panels:
  • - Paediatric disorders
  • - Rare multisystem ciliopathy Super panel
Signed-off version 4.5
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Senior-Loken syndrome 5, 609254, Senior-Loken syndrome
Green
in Renal ciliopathies
Component of the following Super Panels:
  • - Cystic renal disease
  • - Paediatric disorders
  • - Rare multisystem ciliopathy Super panel
  • - Unexplained young onset end-stage renal disease
Signed-off version 3.13
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Senior-Loken syndrome 5, 609254, Senior-Loken syndrome
Green
in Retinal disorders
R-numbers: R32
Signed-off version 6.16
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Senior-Loken syndrome 5 (nephronophthisis and Leber congenital amaurosis), Leber congenital amaurosis, Eye Disorders