Genes in panel
STRs in panel
Prev Next
Regions in panel
Prev Next

Prepair 1000+

Gene: IQCB1

Green List (high evidence)

IQCB1 (IQ motif containing B1)
EnsemblGeneIds (GRCh38): ENSG00000173226
EnsemblGeneIds (GRCh37): ENSG00000173226
OMIM: 609237, Gene2Phenotype
IQCB1 is in 10 panels

1 review

Andrew Coventry (Victorian Clinical Genetics Services)

Green List (high evidence)

Established gene disease association.
Main features of nephronophthisis and Leber congenital amaurosis. Nephronophthisis/renal disease has variable age of onset of symptoms, but many reports of <18 years of age. Progression to end stage renal disease.
More than 20 unrelated families reported.
Animal model present (zebrafish).
Created: 8 Nov 2024, 10:30 a.m. | Last Modified: 8 Nov 2024, 10:30 a.m.
Panel Version: 1.546

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Senior-Loken syndrome 5 MIM#609254

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Senior-Loken syndrome 5, 609254 (3)
OMIM
609237
Clinvar variants
Variants in IQCB1
Penetrance
None
Panels with this gene

History Filter Activity

1 Jun 2022, Gel status: 3

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: IQCB1 was added gene: IQCB1 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green 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 (3)