Renal ciliopathies

Gene: IQCB1

Green List (high evidence)

IQCB1 (IQ motif containing B1)
EnsemblGeneIds (GRCh38): ENSG00000173226
EnsemblGeneIds (GRCh37): ENSG00000173226
OMIM: 609237, Gene2Phenotype
IQCB1 is in 17 panels

1 review

Alice Gardham (Genomics England)

Comment when marking as ready: Many cases reported. Offered on GOS ciliopathy panel
Created: 19 Jan 2017, 3:03 p.m.

History Filter Activity

10 Jul 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Eleanor Williams (Genomics England Curator)

gene: IQCB1 was added gene: IQCB1 was added to Renal ciliopathies. Sources: Emory Genetics Laboratory,Expert list,UKGTN,Radboud University Medical Center, Nijmegen,Orphanet,Expert Review Green,Illumina TruGenome Clinical Sequencing Services Mode of inheritance for gene: IQCB1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: IQCB1 were set to Senior-Loken syndrome 5, 609254; Senior-Loken syndrome