Groopman et al 2019 - Genes with diagnostic variants
Gene: IQCB1

IQCB1 (IQ motif containing B1)
EnsemblGeneIds (GRCh38): ENSG00000173226
EnsemblGeneIds (GRCh37): ENSG00000173226
OMIM: 609237, Gene2Phenotype
IQCB1 is in 14 panels

1 review

Eleanor Williams (Genomics England Curator)

I don't know

From Groopman et al 2019 Table S7. Gene symbol: IQCB1; Inheritance: AR; Clinical diagnosis: Congenital or cystic renal disease; Genetic diagnosis: Senior-Loken syndrome 5; OMIM phenotype MIM no.: 609254; Number of cases: 1 (compound het)
Created: 2 Jul 2019, 9:46 p.m. | Last Modified: 2 Jul 2019, 9:46 p.m.

Panel Version: 0.4

Created: 2 Jul 2019, 9:46 p.m.
Last Modified: 2 Jul 2019, 9:46 p.m.
Panel version: 0.4

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Red
Expert review red
Literature

Phenotypes

Congenital or cystic renal disease
MIM 609254
Senior-Loken syndrome 5

OMIM

609237

Clinvar variants

Variants in IQCB1

Penetrance

None

Panels with this gene

History Filter Activity

2 Jul 2019, Gel status: 1

Added New Source

Eleanor Williams (Genomics England Curator)

Source Expert Review Red was added to IQCB1.

2 Jul 2019, Gel status: 1

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

Eleanor Williams (Genomics England Curator)

gene: IQCB1 was added gene: IQCB1 was added to Groopman et al 2019 - Genes with diagnostic variants. Sources: Literature,Expert review red Mode of inheritance for gene: IQCB1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: IQCB1 were set to Congenital or cystic renal disease; MIM 609254; Senior-Loken syndrome 5

Groopman et al 2019 - Genes with diagnostic variants Gene: IQCB1