Renal and urinary tract disorders
Gene: IQCB1EnsemblGeneIds (GRCh38): ENSG00000173226
EnsemblGeneIds (GRCh37): ENSG00000173226
OMIM: 609237, Gene2Phenotype
IQCB1 is in 14 panels
2 reviews
Ellen Thomas (Genomics England Curator)
Comment on list classification: Senior-Loken syndrome: not including syndromic genes on this panel.Created: 10 May 2016, 10:35 a.m.
Miranda Durkie (Genetics)
No current test experience but this gene is on the list for an extended panel.
Created: 22 Oct 2015, 11:54 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Details
- Mode of Inheritance
- Unknown
- Sources
-
- Expert Review Red
- Phenotypes
-
- Ciliopathy genes associated with cystic kidney disease
- OMIM
- 609237
- Clinvar variants
- Variants in IQCB1
- Penetrance
- None
- Panels with this gene
-
- Retinal disorders
- Renal ciliopathies
- Ophthalmological ciliopathies
- Unexplained kidney failure in young people
- Ductal plate malformation
- Cystic kidney disease
- Fetal anomalies
- Structural eye disease
- Skeletal dysplasia
- Glaucoma (developmental)
- Thoracic dystrophies
- Primary ciliary disorders
- Childhood onset dystonia, chorea or related movement disorder
- Rare multisystem ciliopathy disorders
History Filter Activity
Panel promoted to version 1.0
Eleanor Williams (Genomics England Curator)Miranda Durkie: No current test experience but
Set Phenotypes
Ellen McDonagh (Genomics England Curator)Added phenotypes Ciliopathy genes associated with cystic kidney disease for gene: IQCB1
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Ellen McDonagh (Genomics England Curator)gene: IQCB1 was added gene: IQCB1 was added to Renal and urinary tract disorders. Sources: Expert Review Red Mode of inheritance for gene: IQCB1 was set to Unknown Phenotypes for gene: IQCB1 were set to Ciliopathy genes associated with cystic kidney disease