Renal ciliopathies
Gene: IQCB1
IQCB1 (IQ motif containing B1)
EnsemblGeneIds (GRCh38): ENSG00000173226
EnsemblGeneIds (GRCh37): ENSG00000173226
OMIM: 609237, Gene2Phenotype
IQCB1 is in 14 panels
EnsemblGeneIds (GRCh38): ENSG00000173226
EnsemblGeneIds (GRCh37): ENSG00000173226
OMIM: 609237, Gene2Phenotype
IQCB1 is in 14 panels
1 review
Alice Gardham (Genomics England)
Comment when marking as ready: Many cases reported. Offered on GOS ciliopathy panelCreated: 19 Jan 2017, 3:03 p.m.
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Illumina TruGenome Clinical Sequencing Services
- Expert Review Green
- Orphanet
- Radboud University Medical Center, Nijmegen
- UKGTN
- Expert list
- Emory Genetics Laboratory
- Phenotypes
-
- Senior-Loken syndrome 5, 609254
- Senior-Loken syndrome
- OMIM
- 609237
- Clinvar variants
- Variants in IQCB1
- Penetrance
- None
- Panels with this gene
-
- Rare multisystem ciliopathy disorders
- Childhood onset dystonia, chorea or related movement disorder
- Retinal disorders
- Renal ciliopathies
- Ophthalmological ciliopathies
- Unexplained kidney failure in young people
- Ductal plate malformation
- Cystic kidney disease
- Structural eye disease
- Fetal anomalies
- Glaucoma (developmental)
- Thoracic dystrophies
- Skeletal dysplasia
- Primary ciliary disorders
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